The Nebraska NEWBORN SCREENING PROGRAMgovdocs.nebraska.gov/epubs/H8200/A001-200203.pdf · · 2006-02-13Newborn screening is initiated by collecting a blood specimen from a simple

TheNebraska

NEWBORN SCREENING PROGRAM2002 and 2003 Report

Including

Newborn Screening for Inborn Errors ofMetabolism and Inherited Disorders

andNewborn Hearing Screening

September 2004

Nebraska Health and Human Services System

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TABLE OF CONTENTS

SECTION I NEWBORN SCREENING FOR INBORN ERRORS OF METABOLISM and INHERITED

DISORDERSWhy is this Report Important? . . . . . . 4What is Newborn Screening? . . . . . . . 6

Part IAdministrative system of newborn screening in Nebraska . . 7The newborn screening system for laboratory testing . . . 8

Part IIMajor initiatives of 2002 and 2003

Education . . . . . . . . 9Policy Development . . . . . . . 10Treatment Services Changes . . . . . . 12Newborn Screening Advisory Committee . . . . 15Healthy Mothers/Healthy Babies Connection . . . 17

Part III Nebraska Newborn Screening Data for 2002 and 2003

Consent/Dissent Rates . . . . . . 18Specimen Collection Data . . . . . . 20

Age at Collection of Initial Specimen . . . 20Unsatisfactory Specimens . . . . . 21Drawn Early Specimens . . . . . 23Transfers Without a Specimen Collected . . . 24Specimen TurnaroundTime . . . . 25

Presumptive Positive Screening Rates . . . . 27Laboratory Testing Data . . . . . . 29Home Births . . . . . . . . 32Disorder Specific Data . . . . . . 34MS/MS Screening Results . . . . . . 38Intervention Data . . . . . . . 39

Part IVPlans/Continuing Activities . . . . . . . 43

Nebraska Newborn Screening Program 2002/2003 Report

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SECTION II NEWBORN HEARING SCREENING

Why is this Report Important? . . . . . . 45What is Newborn Hearing Screening . . . . . . 45

Part IThe Newborn Hearing Screening System in Nebraska

System Elements . . . . . . . 47System Protocols . . . . . . . 50

Part IIMajor Initiatives for 2002 and 2003

Federal MCHB Grant for System Integration and Education . 55Nebraska Health Care Cash Fund Grant for Hearing Screening

Expansion . . . . . . . . 56Education . . . . . . . . 57Parent Survey . . . . . . . . 58Newborn Hearing Screening Advisory Committee . . . 58

Part IIINebraska Newborn Hearing Screening Data for 2002 and 2003

Birthing Facility Data for 2002 and 2003 . . . . . 60Audiological/Confirmatory Test Provider Data 2002 and 2003 . 64Summary . . . . . . . . 70

Part IVPlans and Activities for 2004 – 2005 . . . . . 71

…………………………………………………………………………………………

Glossary . . . . . . . . . 72Appendix (survey summaries) . . . . . . 74Program Contacts . . . . . . . . 77


SECTION INEWBORN SCREENING FOR INBORN ERRORS OF

METABOLISM and INHERITED DISORDERS

WHY IS THIS REPORT IMPORTANT?Newborn Screening is an essential, preventive public health program. Each of these components of the system

requires ongoing monitoring to ensurequality.

This report explains significant changesduring 2002 and 2003 that occurred toNebraska’s newborn screening system,greatly expanding the number of disordersscreened, and the State’s capacity to ensurequality.

The goal of newborn screeningfor metabolic and inheriteddisorders is to identify newbornsat risk for certain metabolic,endocrine, hematologic, and otherdisorders that would otherwise beundetected until damage hasoccurred, and for whichintervention and/or treatment canimprove the outcome for thenewborn.

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Newborn Screening is a system. It is notjust the laboratory test. It involves manyelements including:• education of health care professionals

and parents• proper and timely collection of quality

specimens • appropriate and timely transmittal of

specimens to the NBS laboratory • rapid quality testing methods • timely notification of the infants

physician • timely retrieval of the infant for

confirmatory or repeat testing;appropriate referral to specialistsfamiliar with treatment for these raredisorders

• assuring access to needed specializedservices and treatment


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BIOTINIDASE DEFICIENCY:Six infants with profound or treated-partial biotinidase deficiency. (Two in2002, four in 2003). Biotinidase deficiencyleft untreated can result in nerve and braindamage and mental retardation.

CONGENITAL PRIMARYHYPOTHYROIDISM:Twenty-six infants with congenitalprimary hypothyroidism (CPH). (15 in2002, 11 in 2003). CPH left untreated canresult in mental retardation, various degreesof growth failure, deafness and neurologicabnormalities.

GALACTOSEMIA:Two infants with Galactosemia (Oneclassical and one treated Duarte MixedHeterozygote). (Both identified in 2003). Infants with galactosemia may have liverdysfunction, neurological findings ofirritability and seizures, poor feeding, failureto thrive and possibly death. Left untreated,the child who survives the neonatal periodoften will have cataracts, cirrhosis andmental retardation. Identified and treatedearly, these outcomes can be avoided.

PKU:Six infants with classical phenylketonuria(PKU) or treated hyperphenylalaninemia. (Two in 2002 and four in 2003). Patientswith undiagnosed / untreated PKU haveprogressive developmental delay in the firstyear of life, severe mental retardation,seizures, and autistic-like behavior.

HEMOGLOBINOPATHIES:Eleven infants with sickle cell disease orother clinically significanthemoglobinopathy. (Six in 2002, and fivein 2003). The sickling hemoglobinopathiescause lifelong hemolytic anemia with acuteand chronic tissue damage secondary to theblockage of blood flow produced by theabnormally shaped red cells. Clinicaloutcomes can include painful crises, sepsis,infections, splenic sequestration, and stroke.

MCAD:One infant with MCAD. (Identified in2002). Patients with undiagnosed MCAD(Medium Chain Acyl CoA DehydrogenaseDeficiency) are at risk of metabolic crises,severe disability or death when blood sugarsbecome dangerously low during fasting orillness. Preventive measures are highlysuccessful in avoiding these effects.

SUPPLEMENTAL SCREENING:One infant with an organic acid disorder(3-Methylglutaconyl-CoA HydrataseDeficiency ) identified on the supplementaltandem mass spectrometry panel.

Fifty-three ( 53 ) babies werespared the effects of disordersscreened, thanks to earlyidentification and treatmentfrom blood-spot screening in2002 and 2003.


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WHAT IS NEWBORN SCREENING?

Newborn screening programs have been around for over four decades in all 50 States and in

several countries. The compulsory screening panel varies from state to state but the overall goal

is the same. This goal is to detect serious disorders for which effective treatment is available in

time to begin treatment and prevent the effects of the disorders. Depending on the disorder,

effects can range from brain and nerve cell damage resulting in severe mental retardation, to

damage to the child’s liver, spleen, eyes, physical growth retardation, stroke and even death.

Some of these effects may occur in hours to days, depending on the underlying disorder, while

others may take weeks or months or even years to show clinical or developmental signs.

Newborn screening is initiated by collecting a blood specimen from a simple heel stick directly

on to special filter paper. The filter paper blood spots are shipped to the newborn screening

laboratory and tested for several disorders. When a specimen is “presumptive positive” for a

disorder, the physician is notified and has the infant come back for a confirmatory test. Once a

diagnosis is made, treatment can begin. Treatment varies depending on the disorder and for

some, intervention may be recommended upon learning the initial screening result, prior to

obtaining the confirmatory results. Some examples of treatment are: parent education for

recognizing signs/symptoms of metabolic crisis, restricting certain foods from the diet, taking a

particular vitamin or medication, supplementing a restricted diet with special foods and formula,

or preventive antibiotic treatment. Whatever the treatment, the consequences of not beginning

treatment in time can be extremely serious for the infant and the family.

The disorders screened are rare, so the Newborn Screening Program always recommends

consultation with and/or referral to the appropriate pediatric specialist such as a Geneticist.

Nebraska Newborn Screening Program 2002/2003 ReportPART I

Administrative System of Newborn Screening in NebraskaThe Nebraska Newborn Screening Program (NNSP) is organizationally placed in theNebraska Department of Health and Human Services (HHS). The NNSP is in the Office ofFamily Health. The program administers the regulations, policies and procedures, patientand professional education, conducts follow-up, tracking and the monitoring of qualityassurance.

Nebraska Health and Human Services SystemThe Policy Cabinet consists of the three Department Directors plus the Policy Secretary and

Chief Medical Officer. Newborn Screening is in the Department of Health and Human Services(the other Departments are Finance and Support, and Regulation and Licensure)

Department of Health andHuman ServicesNancy Montanez, Director(effective 2004)

Romeo Guerra,Deputy Director,Health Services(including Offices ofMinority Health, RuralHealth, Women’sHealth, Public Health, Disease Prevention andHealth Promotion)

George Hanigan,Deputy Director-Regional Centers-Beatrice State Developmental Cntr.-Developmental Disabilities Division-Division of Healthand Well Being

Dennis LooseChief Deputy Director-Protection and Safety-Economic Assistanceand Family Support-Service Areas-Veterans Homes

NewbornScreening andGeneticsProgramJulie Miller,Manager -

NewbornHearingScreeningJeff Hoffman,Manager

Office of Family Health, Paula Eurek, Administrator

Richard Raymond, MD,Chief Medical Officer

Other Programs/Units within the Office of Family Health:Commodity Supplemental Food Program (CSFP) Barb PackettImmunizations Barbara LudwigMaternal and Child Health (MCH) Epidemiology Unit

Child Death Review Team Debbie Barnes-JosiahPregnancy Risk Assessment Monitoring Surveillance (PRAMS) Jennifer SevereOforahEpidemiology Surveillance Coordinator Vacant

Perinatal, Child and Adolescent Health –Sue HuffmanAdolescent Health Linda HenningsenSchool Health Rose Ann L’HeureuxTogether For Kids and Families Lynne Brehm

MCH Planning and Support Rayma DelaneyReproductive Health Adrian Meuse-ThomallaWomen, Infants and Children’s Program (WIC) Peggy Trouba

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The Newborn ScreeningSystem for LaboratoryTesting In 2002, 69 Nebraska birthing hospitals sentspecimens to either Regional PathologyServices at the University of NebraskaMedical Center (UNMC) in Omaha, orQuest Diagnostics, Inc. in Lincoln to betested for 5 mandated disorders. (The federalhospital at Offutt Airforce Base sent theirnewborn screening specimens to a thirdlaboratory out of state.)

By July of 2002, a change in the lawgoverning Newborn Screening addedMCAD to the required screening panel. Since no Nebraska laboratory had thetandem mass spectrometry instrument toscreen for MCAD, alternative plans weremade by individual hospitals with the helpof Regional Pathology Services and QuestDiagnostics, Inc. to obtain this testingelsewhere.

F2itrwB

From July 2002 through the end of June2003, the 69 hospitals collected secondinitial specimens and sent them to one oftwo out of state laboratories to meet therequirement of testing for MCAD. Somewent to the Institute of Metabolic Disease atBaylor University Medical Center for fullspectrum testing by tandem massspectrometry. For parents that chose not toreceive the full spectrum results, the secondinitial specimen was sent to the Iowa StatePublic Health Laboratory to screen forMCAD-only via tandem mass spectrometry. By July 2003, the Department of Health andHuman Services had entered into acontractual agreement with NeoGenScreening Laboratory LP, (later acquired byPediatrix Screening) and all hospitals begansending every newborn screening specimento this laboratory in Pennsylvania.

rom July 2002 through the end of June In003, the 69 hospitals collected secondnitial specimens and sent them to one ofwo out of state laboratories to meet theequirement of testing for MCAD. Someent to the Institute of Metabolic Disease ataylor University Medical Center for full

EVOLUTION OF NEWBORN BLOOD SPOT SCREENING IN NEBRASKA

As recently as 1996: 21 labs doing screening - 3 disorders required

1996: 5 labs doing screening - 5 disorders required

2002: 2 labs doing screening - 6 disorders required- (2 other labs doing the testing forMCAD or MCAD as part of fullTandem mass spectrometrypanel: ≅ 55% participate insupplemental screening )

2003: One lab does all testing - 6 disorders required-supplemental tandem massspectrometry universally offeredto all parents (≅ 95% participate)

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PART II

MAJOR INITIATIVES of 2002 and 2003

Education

The program significantly revised the patient education booklet using full-colorphotos, and simplified the reading level while expanding the information to betterinform parents. The booklet was field-tested and parent survey results yieldedgenerally positive comments. (Parent Survey results initiating these changes can befound in the appendix of the State Plan athttp://www.hhs.state.ne.us/hew/fah/nsp/stateplan.htm. Also see appendix in thisreport for parent reaction to the new material.) Due to the development of this newmaterial, the program was invited to present at the 2003 National Symposium inBerkeley California on Tandem Mass Spectrometry Screening Practices. Theprogram manager presented as part of two panels, one on “Patient EducationMaterials” and one on “Informed Consent.” Supplies of the full color booklets areroutinely sent by the program to all birthing facilities for inclusion in their newborninformation packets. These booklets are intended to supplement hospital andphysician education of new parents about newborn screening. The booklets areavailable in English and Spanish.

A Physician Information Sheet and Patient Fact Sheet were developed for MCAD. The NNSP faxes these sheets to the newborn’s physician when notifying thephysician of a positive MCAD screening result. The physician information sheet wasmodeled after a form developed by the Iowa Newborn Screening Program.

Several grand round presentations were conducted at hospitals across the State in2003 by Richard Lutz, MD, William Rizzo, MD and G. Bradley Schaefer, MD,pediatric metabolic specialists. A presentation was also made to the members ofAWHONN (Association of Women’s Health Obstetrics and Neonatal Nurses). Thegrand rounds covered metabolic newborn screening, emphasizing MCAD and thefatty acid, amino acid and organic acid disorders that can be identified viasupplemental newborn screening from tandem mass spectrometry.

Eleven Regional in-services were presented at nine hospitals across the state by theNewborn Screening Program Manager in the Spring of 2003 to help prepare hospitalsfor the transition to the single lab and universal offering of supplemental screening toall parents. Four physicians and 222 nursing and laboratory staff attended these in-services.

To help evaluate the effectiveness of patient education materials, a survey of newparents was conducted as part of the State Newborn Screening and Genetics Planninggrant needs assessment. Partly as a result of this assessment, the materials weresignificantly changed. (See appendix for survey results.)

http://www.hhs.state.ne.us/hew/fah/nsp/stateplan.htm


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Policy Development

Legislation was introduced and passed during the 2002 session (LB 235) thatwould significantly change the way screening was done in Nebraska. LB 235revised the Newborn Screening Law requiring:

Universal screening for MCAD, adding it to the mandatory newborn screeningpanel

A competitive bid process for a contract with a single lab to conduct all of thestate’s screening

Specific quality assurance compliance by the contracted laboratory

An increase from $3 to $10 of the per infant screened fee (used to support formulaand treatment)

This legislation resulted from the Department’s plan to find a cost-effectivemechanism that would ensure quality screening for carrying out the NewbornScreening Technical Advisory Committee’s recommendation to add MCAD to therequired panel. Despite expanding the panel and despite the increase in the fee, thecost of newborn screening testing was reduced by competitively bidding the contract.

The law governing Predictive Genetic Testing was revised in 2003, followingstakeholder/advisory group recommendations to clarify certain sections. LB 119introduced and passed by the 2003 legislature clarified Nebraska Revised Statute 71-1, 104 passed by the 2001 legislature. A group of stakeholders met several times andworked very hard to develop a model informed consent form for predictive genetictests. Regulations were developed. Following the regulation promulgation processincluding a public hearing held in November of 2003, the regulations became officialin February 2004. Model informed consent forms are available from the Departmentof Health and Human Services for:

Supplemental Newborn Screening

Prenatal predictive genetic testing

(Other) Predictive genetic testing

The Storage, Use, and Disposal of Residual Dried Blood Spots from NewbornScreening was addressed by LB 432 introduced and passed in 2001. The statuterequired the Department to develop regulations governing the storage, use, anddisposal of residual dried blood spots from newborn screening. A stakeholder groupadvised the Department on these regulations beginning in December 2001. TheNewborn Screening regulations were revised in 2002 to add language recommendedby the stakeholder group. Residual newborn screening dried blood spots fromNebraska newborns are to be stored for 90 days, and destroyed within 30 days


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following this period. They may only be used for research when approved by anInstitutional Review Board, and when individual consent of the newborn’s parent orlegal guardian has been obtained.

A Newborn Screening and Genetics Planning Grant received from the Maternaland Child Health Bureau resulted in a needs assessment and state plan for geneticservices being developed in 2002 and 2003. The program had collaborated with theUNMC, Munroe- Meyer Institute (MMI) for Genetics and Rehabilitation in thedevelopment of the application. The Department contracted with MMI for thecoordination of this project. Shelly Nielsen, MS served as the project managerworking with the Newborn Screening and Genetics Advisory Committee.Membership included most of the Technical Committee advisors but was expanded inan attempt to gain greater consumer, minority and geographic representation. Theconsumer representation increased from one to six members, minority representationby two, and geographic representation improved with the addition of a rural familypractice physician and central Nebraska pediatrician (Academy assigned)representatives.

During the first year of the grant, this group worked to identify perceived gaps orbarriers in the service system infrastructure for newborn screening and for childrenwith special health care needs due to genetic conditions. The five infrastructure workgroups were Policy, Legislative, Data, Personnel Resources, and Financing. Thegroups identified information needs and began analysis of preliminary informationprovided, using nationally recognized guidelines (AAP) for newborn screening andgenetics.

A site visit by experts from the National Newborn Screening and GeneticResource Center was conducted in October 2003. Recommendations from this sitevisit were incorporated into the final State Plan for Newborn Screening andGenetics. Some of the recommendations have been implemented and others arebeing evaluated for ways to implement them. A copy of the State Plan can beobtained by contacting the program or as a pdf file by visiting the web site: http://www.hhs.state.ne.us/hew/fah/nsp/stateplan.htm.

In the Courts: In 2002 a family in Douglas County refused the required screeningfor their newborn. The Douglas County Court ruled the family must have the babyscreened, and the family complied. Again in 2003 another family in Douglas Countyrefused the required screening for their newborn. This case was reported in easternNebraska newspapers and news segments on television. Following requests forcontinuances, the judge ruled the family must get the baby screened. This case hasbeen appealed and will be heard in the Nebraska Supreme court. A third case (2004)in Lancaster County Court, the judge also upheld the law and ordered the baby to bescreened. The parents complied.

http://www.hhs.state.ne.us/hew/fah/nsp/stateplan.htm


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Treatment Services Changes

Nebraska’s longtime advocate and expert in metabolic diseases and newbornscreening, Dr. Hobart Wiltse began a well-deserved retirement in 2002. In 2002 theHobart Wiltse Institute for Metabolic Disease was dedicated at Children’s Hospital inOmaha. Coordination between Children’s Hospital and the Munroe-Meyer Institutefor Genetics and Rehabilitation at the University of Nebraska Medical Centerresulted in changes in services for newborns and children with metabolic disorders. Adults continue to be seen in the clinic at Munroe-Meyer, but newborns and children arenow seen by the UNMC pediatric metabolic specialists at the Children’s Hospitallocation.

Fortunately the Program continues to benefit from Dr. Wiltse’s many years of experienceand expertise via his involvement with the Newborn Screening Advisory Committee, onwhich he serves as the 2004 Chairperson.

Nebraska is extremely fortunate to have great expertise in Genetics, PediatricMetabolism, and Pediatric Endocrinology. The following Pediatricians, and Board-Certified Medical Geneticists are either Board Certified or Board-eligible in geneticsendocrine and metabolism:

*Richard Lutz, MD, FAAP, FACMG, University of Nebraska Medical CenterBoard Certified: Pediatrics, Genetics, Endocrinology, and Metabolism Associate Professor of Pediatrics*William Rizzo, MD, University of Nebraska Medical CenterBoard Certified: Pediatrics and Medical Genetics (Clinical Genetics and BiochemicalGenetics)Professor of PediatricsG. Bradley Schaefer, MD, FAAP, FACMG, University of Nebraska Medical CenterBoard Certified: Pediatrics, Genetics, Endocrinology; Board Eligible BiochemicalGeneticsOmaha Scottish Rite, Masonic Professor of Child Health Associate Director, Munroe-Meyer Institute for Genetics and Rehabilitation Associate Chairman for Faculty Development, Department of PediatricsBruce Buehler, MD, FAAP, FACMG, University of Nebraska Medical Center, Director, Munroe-Meyer Institute for Genetics and RehabilitationChairman Department of PediatricsProfessor of Pediatrics and PathologyAdolfo Garnica, MD, Children’s Hospital, OmahaBoard Certified, Pediatrics, Genetics, Endocrinology and MetabolismKarl Roth, MD at Creighton Pediatrics and Horatio Plotkin, MD Children’s PedEndocrinology also specialize in genetics/endo/metabolism, with Dr. Plotkin specializingin diseases of bone metabolism.*Regularly see patients referred through the newborn screening in the metabolic clinics at Children’sHospital and the Nebraska Medical Center, and primary consultants to the Newborn Screening Program.


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Also staffing the metabolic clinics are outstanding allied health professionals withspecialization in the disorders of metabolism. Jill Skrabal, MS, RD, LMNT, CDE helpsadult patients and families manage the special diets through the metabolic clinic atUNMC. Ms. Skrabal also conducts all formula distribution via a contract with theDepartment of Health and Human Services. Kathryn Heldt, RD, LMNT, CDE and KathyRossiter, MSN, CDE, ARNP, CPNP, likewise work closely with the families of childrenwith PKU and other metabolic disorders in managing the challenging diets through themetabolic clinic at Children’s Hospital.

Funding sources for treatment:Federal funds allocated to Nebraska under the Title V Maternal and Child Health BlockGrant have been used for many years to support nutritional counseling and to provide specialized formulas for individuals with PKU. In addition, state general fundappropriations of $42,000 and funds generated from the per infant screened fee helppurchase the specialized formula and pharmaceutically manufactured foods necessary fornormal development and adequate nutrition for people with PKU. These funding sourcesare critical as there is no Federal Health Insurance Act or even a State Insurancerequirement that ensures coverage of the essential metabolic formula or medicallynecessary foods.

With the addition of MCAD to the mandatory screening panel in 2002 and the option forsupplemental MS/MS testing for other fatty acid, amino acid and organic acid disorders,the contract was expanded in 2003 to help with treatment costs (special formulas) forindividuals identified with these disorders screened. In addition, in 2003 it soon becameapparent the NNSP follow-up program success relied even more heavily on closecollaboration with physician specialists in metabolism. Therefore the contract for theordering and distribution of special metabolic formulas and dietary consultation wasexpanded to include part of a Pediatric Metabolic Specialist Physician’s salary. Whenabnormal screening results are obtained the pediatric metabolic specialist is on-call forconsultation to the primary health care provider, and in many cases that are urgent, thespecialist will contact the PHCP to aid with follow-up recommendations.

Families were able to order the pharmaceutically manufactured foods directly from thevendors with which Nebraska had contracts. As specified in the statute, each individualrequiring the special diet is eligible for up to $2000 of the pharmaceuticallymanufactured foods. Through these resources 44 individuals with PKU were served formetabolic and dietary consultation and formula and/or foods.

Treatment costs supported by the Nebraska Newborn Screening Program:

The contract for metabolic formula and professional nutrition management by dietitiansserved 42 individuals in Fiscal Year (FY) 02, and 47 individuals in FY 03:

FY 2002 (ending June 30, 2002) $200,255FY 2003 (ending Sept. 30, 2002-adjusted quarter due to Fed FY) $279,278

State contract expenditures to vendors for the pharmaceutically manufactured foods


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ordered direct by families for 28 individuals in FY 02 and 44 individuals in FY 03 were:

FY 2002 (ending June 30, 2002) $18,829.22FY 2003 (ending June 30, 2003) $46,246.81

The significant increase in family participation in the foods program in FY 2003 isbelieved to be due in large part to significant patient education and outreach efforts ofstaff from the metabolic clinics. The metabolic clinic staff worked particularly close withwomen of childbearing age or who have conceived, to help them manage the diet.

According to the National Institute of Health (NIH) Concensus Statement onPhenylketonuria: Screening and Management (Oct/2000) “The goal in the treatment ofPKU is to maintain metabolic control of Phe for optimal adaptation and outcome. … Toachieve optimal metabolic control and outcome, a restricted-Phe diet, including medicalfoods and low-protein products, most likely will be medically required for virtually allindividuals with classical PKU for their entire lifetimes…” The diet is crucial during theearly years to prevent mental retardation, and critical during childbearing years to preventpregnancies from being affected with microcephaly and other problems. Studies havealso found that cognitive and motor functioning can be negatively affected by going off-diet.


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Newborn Screening Advisory Committee

The Newborn Screening Technical Advisory Committee (NBSTAC) exists to providetechnical expertise and guidance to the Nebraska Newborn Screening Program. In 2002following the passage of LB 235, the Committee met to make recommendations forregulations to implement the changes in the Newborn Screening Law.

MCAD and regulations Spring 2002:At the Spring meetings, the Committee discussed the other disorders that may be detectedby tandem mass spectrometry (MS/MS) when screening for MCAD. They consideredwhether any of the other MS/MS disorders should be included in the mandatory panel. While the Committee concluded that many of the disorders met the criteria for inclusionin mandatory NBS panels, the decision to require them was deferred for many reasons. For one, some of the good candidate-disorders are identified by markers that are sharedwith other disorders that do not as clearly meet the criteria. As more states add MS/MSto their NBS panels, more data will accumulate. It is expected that the anecdotes ofpositive outcomes for previously thought to be untreatable disorders will become betterknown and well documented. The Committee and the Program felt the best course ofaction until more data becomes available, was to be sure the full spectrum panel would beoffered to all newborns, but to ensure it would not cost more if parents chose to receivethe results. This was accomplished via the regulations and the competitively bid contractwith the laboratory.

Quality Assurance Reviews:In 2003, the Committee continued to review quarterly quality assurance reports from theprogram. The Committee also monitored aggregate data received by the program onsupplemental screening using tandem mass spectrometry. Refer to Section III of thisreport for summaries of this data.

Further regulation revision recommendations:In the fall of 2003, the Program acted on recommendations of the Committee and a sub-work group of laboratory specialists to significantly revise the regulations. Regulationrevision began through the public process in the fall/winter of 2003. Specifications fortest methodology and cut-offs were removed from the regulations and replaced withlanguage allowing these specifications to be determined via contract with a singlelaboratory, with the advice of the Newborn Screening Advisory Committee. Theprogram management felt comfortable making the regulations more flexible once a singlelaboratory test provider system was in place with contractual obligations. Allowing suchchanges to occur through contractual arrangements vs. regulatory channels will ensureNebraska can respond more rapidly as appropriate to improvements in technology.

Consideration of new disorders for newborn screening:Screening for Cystic Fibrosis and for Congenital Adrenal Hyperplasia began receivinggreater national and grassroots attention. A national conference was held in November of2003 to present data on Cystic Fibrosis screening. The NBSAC also began discussions


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of this topic at its December 2003 meeting. Further consideration of these disorders,pending additional data and review of service system needs will continue.

Committee Structure: A formal Charter was adopted in 2003, which reflected the broader advisory charge ofthe committee beyond the “technical” aspects into the “policy” aspects. Therefore theCommittee removed “technical” from the title and changed to the “Newborn ScreeningAdvisory Committee”. The members of the NBSAC were/are:

Khalid Awad, MD, Neonatologist, Neonatal Care PC, Omaha, Nebraska, 2003. Lawrence Bausch, MD, Neonatologist, Saint Elizabeth Community Health Center,

Lincoln, Nebraska, 2002 and 2003. Kevin Corley, MD, Pediatric Endocrinologist, Children’s Hospital, Munroe/Meyer

Institute for Genetics and Rehabilitation, UNMC, Omaha, Nebraska, 2002 and 2003. Jeanne Egger, Parent, Hallam, NE, 2003 Adolfo Garnica, MD, Pediatric Endocrinologist, Children’s Hospital, Omaha,

Nebraska, 2003. David Gnarra, MD, Pediatric Hematologist, Children’s Hospital, Omaha, Nebraska,

2002 and 2003. James L. Harper, MD, Pediatric Hematologist, UNMC, Omaha, Nebraska, 2002

and 2003. Kathryn Heldt, RD, Dietitian, Children’s Hospital Metabolic Clinic, Omaha, NE,

2003. Mary Kisicki, RN, Parent, Papillion, NE, 2003. Richard Lutz, MD, Geneticist, Pediatric Endocrinologist, Pediatric Metabolic

Specialist, Munroe/Meyer Institute for Genetics and Rehabilitation, UNMC, Omaha,Nebraska, 2002 and 2003.

Bev Morton, Parent, Lincoln, Nebraska, 2002 and 2003. Howard Needleman, MD, Neonatologist, Children’s Hospital, Omaha, Nebraska,

2002 and 2003. Samuel Pirruccello, MD, Pathologist, Regional Pathology Services, UNMC,

Omaha, Nebraska, 2002 and 2003. Greg Post, PhD, Chemist, Quest Diagnostics, Inc., Lincoln, Nebraska, 2002 and

2003. William Rizzo, MD, Geneticist, Pediatric Endocrinologist, Pediatric Metabolic

Specialist, Munroe Meyer Institute for Genetics and Rehabilitation, UNMC, Omaha,Nebraska, 2003.

Kathy Rossiter, MSN, Certified Pediatric Nurse Practitioner, Children’s HospitalMetabolic Clinic, 2003.

G. Bradley Schaefer, MD, Geneticist, Pediatric Endocrinologist, PediatricMetabolic Specialist, Munroe Meyer Institute for Genetics and Rehabilitation,UNMC, Omaha, Nebraska (ex-officio member), 2002 and 2003.

Jill Skrabal, RD, Dietitian, Munroe Meyer Institute for Genetics and Rehabilitation,UNMC, Omaha, Nebraska, 2002 and 2003.

Douglas Stickle, PhD, Technical Director, Clinical Chemistry, UNMC, Omaha,Nebraska, 2002 and 2003.


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William Swisher, MD, Pediatrician, Lincoln Pediatric Group, Lincoln, Nebraska,2003.

Thomas Williams, MD, Pathologist, Pathology Center, Omaha, Nebraska, 2002 and2003.

Hobart Wiltse, MD, PhD, Pediatric Metabolic Specialist, UNMC, Retired, Omaha,Nebraska, 2002 and 2003.

Healthy Mothers/Healthy Babies Connection

A critical component to any screening program is ensuring appropriate services forfamilies. As discussed in prior reports, concerns were identified that families of infantsscreened positive for hemoglobinopathies were not consistently receiving informationabout next steps to take or the availability of genetic services. The letter sent by theNNSP informing mothers when their infant has a positive screening result for ahemoglobinopathy includes the Nebraska Newborn Screening Program (NNSP) phonenumber for them to call if they have questions. The program has also developed anarrangement with the Healthy Mothers/Healthy Babies toll-free helpline. At this number(included in the letter) mothers can get information about how to reach pediatrichematologists or genetic counseling services. In addition, if they want furtherinformation, the helpline will take their name and number and have an NNSP staff member contact the mother.


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Part III

NEWBORN SCREENING DATA FOR 2002 and 2003

The following data for Nebraska’s Newborn Screening (blood-spot testing) is presentedin this section in much the same sequence as newborn screening occurs. From patienteducation to specimen collection, transport and testing, to results, andintervention/treatment.

Consent/Dissent Rates for Supplemental Newborn Screening:

Education plays a major role in a parent’s choice to receive the supplemental newbornscreening results available from tandem mass spectrometry (MS/MS) when their child isscreened for the mandatory disorders using this method. Health care providers giveparents the “Parent’s Guide to Your Baby’s Newborn Screening” booklet along with the“Supplemental Newborn Screening Consent” form. The baby’s primary health careprovider is to engage in discussion and answer questions from the parents prior toobtaining the consent. The written materials were available to providers and parents in2002 and 2003. Prior to July of 2002 only seven major birthing hospitals offeredsupplemental screening for newborns. At that time approximately 34% of Nebraskabirths received MS/MS testing. In July of 2002, when MCAD became mandatory, andMS/MS thus became a required method, the additional results available from MS/MSwere consented to by about 55% of newborns’ parents. At that time it cost an additional$15 above the cost of mandatory-only testing to get the full spectrum MS/MS. Oncescreening began with Pediatrix in July of 2003 (and it did not cost more for thesupplemental vs. mandatory only), the rate of consent rose to about 95%.

PERCENT OF NEWBORNS TO HAVESUPPLEMENTAL TESTING RESULTS BY MS/MS

Prior to July 2002 34%

July 2002 – July 2003 55%

July 2003 – December 2003 94% +


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The 2002 field testing of the new patient education materials found generally positiveresults. The program will continue to strive to simplify the reading level, and have theinformation translated into more languages. In 2003, the program also surveyed hospitalpersonnel involved with patient education and obtaining consent, to obtain their input onreasons for dissent from the supplemental screening panel. Refer to the appendix of thisreport for both surveys’ results.

Ninety percent of respondentsto the parent survey respondedthey agreed or strongly agreed,

the booklet was easy tounderstand.

Parent survey result 2002

“Now that it doesn’t cost anymore for the supplemental tests,

more parents are consenting”

Hospital staff survey response 2003


SPECIMEN COLLECTION DATA:

Age at Collection of Initial Specimen

Beginning with the new contract for laboratory testing in July of 2003, the programcontinued to monitor, and more closely scrutinized turn around times given the concernwith sending specimens out of state. To assist with this a new report was generated toassist with identification of specific elements affecting turn around time. By identifyingthe age at which specimens are collected we can identify issues with late collection,batching (holding specimens at the hospital before shipping), or with availability or lackthereof of shipping frequency. The data below reflect generally acceptable compliancewith the regulations that require specimen collection between 24 and 48 hours of life, orprior to discharge, transfer or transfusion whichever occurs first.

INFANT’S AGE AT TIME OF FIRST (INITIAL) NEWBORN SPECIMEN COLLECTION

Total Births: 13,265 (July 1-Dec 31, 2003) Number PercentCollected between 0-12 hours of age 79 0.60%Collected between 12-24 hours of age 52 0.39%Collected day 1 (total of first two above) 131 0.99%Collected day 2 (24-48 hours of age) 11,694 88.16%Collected day 3 1,165 8.78%Collected day 4 128 0.96%Collected day 5 19 0.14%Collected day 6 10 0.08%Collected day 7 11 0.08%Over 7 days 107 0.81%Time of specimen collection unknown 0 0.00%

Specimens collected at greater than 2 days of age are of greatest concern. Since some of the disorders screened can affect the baby in the first weekof life, the longer specimens wait, the less likely results can be obtained priorto a metabolic crisis. In addition tandem mass spectrometry testingalgorithms are partly based on expected age at collection and the test isconsiderably more reliable for some disorders, when specimens are collected inthe first few days of life.

When specimens are first collected at 7 days or older, the risk of lateidentification of affected newborns, and the risk of the test not identifyingsome of the disorders increases.

20


21

Unsatisfactory Specimens for 2002 and 2003

The reason it is important to collect the specimen properly the first time is to avoid anyunnecessary delays that could prevent diagnosis and treatment from happening at theearliest opportunity. For every “unsatisfactory” specimen, a second specimen must becollected which usually requires contacting the parents, having them return with the babyto the hospital, the baby undergoing another heel stick procedure, and of coursetransporting another specimen, conducting the testing and reporting the results. Thisentire repeated process can take several days, and could be very costly to the affectedinfant.

Correct specimen collection is done through direct spotting of the filter paper from theheel stick. Each circle should be completely filled with a single flow of blood andsaturate the filter paper so it is seen completely from the other side. Nothing, includingthe baby’s heel should touch the filter paper where the blood spot is filled. Capillary tubecollection and then blotting the filter paper is not recommended because of problems withscratching the filter paper. The specimen must be allowed to dry for a minimum of threeto four hours, and should always be placed horizontally while drying. (Drying racks areavailable to allow this, while avoiding anything touching the specimen.)

Nebraska hospitals continued to do a generally good job in collecting specimens correctlythe first time. Problems with incomplete or inaccurate data recording on the form,however became much more apparent after the NNSP contracted with Pediatrix. We donot believe this is a new phenomena however. This may merely be a reflection of theincrease in communication between the testing lab and NNSP on quality assuranceissues, by virtue of having a contractual arrangement with the lab.

When it comes to rapid identification andretrieval of affected newborns, complete andlegible demographic information recorded on thefilter paper collection card is just as importantas applying good quality blood spots to the filterpaper!


22

UNSATISFACTORY SPECIMEN DATA2002 2003

Number of specimens unsatisfactory :Total specimens 35 : 25,478 62 : 26,008Percent of all specimens that wereunsatisfactory 0.14% 0.24%

Year 2002 and 2003 Data for Unsatisfactory Specimens

Reason specimen was unsatisfactory # of specimens2002

# of specimens2003

Blood not soaked through 19 11

Blood unevenly applied 0 2

Layered 1 2

Quantity Not sufficient 11 40

Specimen contaminated 1 2

Damaged Filter Paper 2 2

Saturated 1 1

Exposed to heat or humidity 0 2


23

Drawn Early Specimens For 2002 and 2003

Per regulation, if a baby is to be transferred, discharged or transfused, even if prior to 24hours of age, a specimen is to be collected. When the infant is less than 24 hours of ageat specimen collection time, a repeat specimen is required to screen for PKU, congenitalprimary hypothyroidism and MCAD. (The early drawn specimen will be acceptable forbiotinidase, galactosemia, and hemoglobinopathy screening tests. MCAD results onspecimens collected at less than 12 hours of age also get repeated when the PKU/CPHrepeat specimen is received.)

Year 2002 and 2003 data of specimens DRAWN EARLY and reason

2002 2003

Baby to be transferred 105 83

Baby to be transfused 31 49

Unable to determine reason from data received at NNSP* 85 67

Total 221 199

*For those babies with specimens drawn early for which the program does not have thedata to identify why, possible reasons are: early discharge, transferred but transfer formnot submitted to NNSP, planned for transfusion which did not take place, hospital error(collected too early even though baby there at least 24 hours and not transfused).


24

Transfers Without a Specimen Collected Prior toTransfer for Years 2002 and 2003

The NNSP follow-up coordinator, Krystal Baumert tracks and monitors records toattempt to ensure every baby born in Nebraska benefits from newborn screening. Overthe last several years she has identified a number of instances where newborns weretransferred between hospitals (sometimes involving as many as three hospitals), and noone obtained the screen. Because the data relied upon by the NNSP is triggered by thelaboratory receipt of a specimen, these “missed” babies can only be detected by doing amonthly match with the electronic birth certificate data. Therefore, it is far moredesirable to obtain a specimen prior to transfer (even if the newborn is less than 24 hoursold), than to risk a baby not getting screened until he/she are a month old or older.

Nebraska regulations require specimen collection prior to transfer. They requirethat a transfer form identifying the screening status be completed, sent with thebaby to the receiving hospital, and a copy sent to the newborn screening program. The program received notification of 310 transfers in 2002 and 258 transfers in 2003. However, forms were not always completed to indicate whether or not the specimen hadbeen collected prior to transfer. Doing so would facilitate earlier recognition of the needfor screening on babies who do not get screened prior to transfer. The NNSP recognizesthere are situations in which the attending physician will determine the newborn’scondition to be too medically fragile to collect a specimen prior to transfer, particularlyunder emergency, life-flight circumstances. That is why completing the transfer formand forwarding it to both places (receiving hospital and NNSP) is critical to ensuringappropriate screening is completed.


Specimen Turnaround Time

Because early identification, diagnosis and treatment is so critical to a successfulnewborn screening program, one of the important measures of quality is that of specimenturnaround time. Beginning with the 2nd quarter of 2001, the NNSP began generating theturn around time data for evaluation. (Previously mean averages, minimum andmaximum turn-around-times were reported by the laboratories.) The program’s dataincluded turn around time for test result availability for galactosemia (as recommendedby the Technical Advisory Committee) since this disorder presents the most critical senseof urgency in treatment. Data was broken down by hospital to get mean averages,minimums and maximums. For those results that were available at 10 days of age orolder, a closer look found most often delays were in hospitals holding specimens(batching) or lengthy transportation. Occasionally delays were due to in-hospital latecollection, and rarely, in-lab delays occurred.

Becastate mustthat wrequiprovi

Durinlaborsuccein thethe Lpick-well more

Turnexpecbut th

One of the biggest concerns with contracting with a laboratoryfor the newborn screening testing, was the potential for testingto go out-of-state. There was concern that turnaround timecould be adversely affected with long transport-times. Thisinitially turned out to be true. However, the Program andAdvisory Committee continue to work closely with the laboratoryand hospitals have seen continuous improvement in this area.

25

use of the potential for the competitively bid contract to be awarded to an out-of-laboratory, the State Program included a requirement that the bidding laboratories include overnight shipment of the specimens as part of their pricing. The laboratory

as ultimately awarded the contract, Pediatrix Screening Laboratory, met thisrement by their independent contract with United Parcel Service (UPS) thatdes this service from Nebraska’s hospitals.

g the first months of screening with Pediatrix, the program worked with theatory to expand the five-day-a-week overnight service to weekends. Pediatrixssfully negotiated with UPS for Saturday pick-up from the largest birthing hospitals state (in Omaha and Lincoln) accounting for nearly two-thirds of the births. All ofincoln, and all but one Omaha hospital have established procedures for Saturdayup of specimens. This has helped turnaround time, in reducing transport time, asas helping to balance out the day-to-day workload at the laboratory by obtaining specimens on Mondays.

around times the first few months on average were considerably longer thanted. Steady improvement in the average turnaround time has been demonstratede laboratory and program continue to evaluate and look for ways to improve.


26

AVERAGE TURNAROUND TIMES1st Quarter Jan 1-Mar 312002 (In-state lab testing)(Representative of 2000/2001quarter data)

3rd quarter July 1-Sep 30,2003(First quarter of testing withPediatrix)

4th quarter Oct 1-Dec 31,2003(Second quarter of testingwith Pediatrix)

Mean Average: 3.983 7.39 6.07Median: 4.000 4.0 6.0Mode: 3.000 7.0 6.0

DAYS OF AGE BY WHICH INITIAL SCREENING TEST RESULTS WEREREPORTED OUT BY THE LABORATORY

Cumulative PERCENT ofnewborns’ results

(1st quarter 2002 – testingdone in State/ multi-labs)


(3rd quarter 2003- testingdone at Pediatrix)


(4th quarter 2003 – testingdone at Pediatrix)

3 days 39.8% 1% 4%4 days 68.9% 5% 21%5 days 90.4% 16% 41%6 days 97.9% 37% 70%7 days 99.5% 64% 89%8 days 99.7% 81% 96%9 days 99.8% 88% 98%10 days 99.8% 93% 99%

>10 days 100% 100%* 100%** Most of these “initial” screening results available after 10 days of age in 2003 were due to a Pediatrix datasystem reporting limitation. For specimen results released, and then re-released with updated information,(such as when the hospital later reports different collection dates or times to correct drawn early status), thesecond “release” date or final report date is the age identified in this data report.

When comparing turnaround times, it is important to recognize the “report” date in themulti-lab system was when the data was entered into the laboratory’s data system, andnot all submitters had electronic access to those results in 2002. With Pediatrixscreening, once the data is released in the data system, every submitter (hospital) can getthose results electronically.

Screening at Pediatrix involved additional second tier testing as part of the initial screen. While this has the intended effect of fewer false positives, and better initial information,the trade-off can be increase in overall turnaround time.


27

(Presumptive) Positive Screening Rates

Another interesting data set used to help manage newborn screening systems is the rate ofpresumptive positive screening results created by the screening. In determiningappropriate technology, test methods, and test cut-offs for each disease screened, theprimary consideration is how well do these parameters detect every newborn with thedisease. Therefore, it is important to set the cut-off high enough (or low enoughdepending on the test), to be reasonably sure every baby will be detected.

On the other hand, it is a significant concern when the number of false positives areperceived to be too high. A second goal of the program is to keep the number of falsepositives as low as possible while maintaining adequate assurance that affected newbornswill be detected.

There are a number of problems with excessive false positive results. The primary concern is the effect of anxiety and worry on the parent of the child with

the result, and the impact this can have on early bonding between the newborn andparents. Secondly, studies have shown that the effect of this anxiety and worry canbe long lasting, despite concerted efforts to reassure the parents.

An excessive number of false positive results can also lead to a false sense of securitythat the result is “just another false positive,” not meriting assertive action on the partof the newborn’s physician to contact the parents and obtain the confirmatoryspecimen from the newborn. This has the potential to delay the rapid and appropriateaction needed to confirm, diagnose and treat affected infants.

And finally, excessive false positives can be a strain on resources from the hospital,laboratory, physician and the follow-up program.

A third factor has entered the equation of determining cut-offs since screening withPediatrix Screening Laboratory began. In an attempt to reduce false positives, but assuremildly affected newborns who could benefit from treatment are also identified, secondtier testing of DNA panels is done following some positive screening results forbiotinidase deficiency, galactosemia, MCAD and hemoglobinopathies. An unintendedconsequence has been an increase in the request for repeat or confirmatory tests due tothis protocol. While this can help the practitioner with diagnosis, it can also “muddy thewaters” due to the unknown mutations that may contribute to the phenotype, but whichare not part of the second tier screen.

CAVEAT:States use varying instruments, methodologies and cut-offs. In addition, the national datareport notes inconsistencies in reporting by some states which brings into question thevalidity of data. Therefore, direct correlations can not be made from the data that isavailable. However, from the summary of data on the next page one can extrapolate thatin general, Nebraska’s chosen technology, methodologies and cut-offs have resulted inpositive screening rates that are reasonable compared to other newborn screeningprograms across the country. Rates for hemoglobinopathies were not figured due tovariances in reporting methods for the national report, and from states. The national data


28

was published as submitted by individual states, and can be found at the following website: http://genes-r-s.uthscsa.edu/resources/newborn/ chapters.html.

PRESUMPTIVE POSITIVE SCREENING RATES per disorder screened in Nebraska,1999 U.S and 2001 Nebraska figures

Disorder Nat’l Rate2000

Nat’l Median2000

Nat’l Range2000

Nebr. 5-yearmean ‘99-‘03

Nebr. Rates2002 / 2003

BiotinidaseDeficiency

0.02%

2 : 10,000

0.05%

5 : 10,000

0-15%

0-15 : 10,000

0.015%

1.5 : 10,000

.011 %/.015%

1.1 / 1.5 :10,000

CongenitalPrimaryHypothyroidism

1.09%

109: 10,000

.69%

69 : 10,000

0.0-57.8%

0-578 : 10,000

.44%

44 : 10,000

0.50%/0.34%

50 / 34:10,000

Galactosemia .09%

9 : 10,000

0.07%

7 : 10,000

0.00-.82%

0-82 : 10,000

0.03%

3.8 : 10,000

0.01%/0.01%

1.1 / 1.9 :10,000

Phenylketonuria .059%

5.93 : 10,000

.41%

4.19 : 10,000

0.00-1.14%

0-114 : 10,000

0.018%

1.82 : 10,000

0.02%/0.01

1.1 / 2.6 :10,000

National Rate 2000 based on sum of all reported presumptive positives divided by the sum of all theinfants reported screened for the disease specified. This rate is converted from % to X:10,000 (rounded )for common reporting purposes. National data source: 2000 National Newborn Screening Report: table3.05 columns 1 and 2; table 4.06 columns 1 and 2; table 5.04 columns 1 and 2; and table 9.03 columns 1and 2.

National Median 2000 is the presumptive positive rate figured for each state’s reported presumptivepositives divided by that state’s reported numbers screened. Mid point of all of the reporting states’ rates.

Range of PP rates: is the highest and lowest presumptive positive rates of each state’s individual ratesfigured.

Nebraska’s rate 2002 and 2003: are the number of presumptive positives divided by the total numberof newborns screened each year.

Nebraska’s 5 year mean: is the mean of the 5 rates figured for each year individually for 1999 through2003.

http://genes-r-us.uthscsa.edu/resources/newborn/chapters.html


29

LABORATORY TESTING DATA

Since more than one lab performed testing for Nebraska’s newborns in 2002 and part of2003, the program and committee utilized monitoring procedures to achieve anacceptable level of consistency in procedures between labs. We’ve continued thismonitoring with the contracted laboratory to ensure continued quality.

Quarterly lab data: One measure the committee monitors is the mean average values ofinitial screening test results. For comparison purposes the following data shows the datafor the first quarter of 2002 from UNMC and Quest laboratories, and the first twoquarters of screening done in 2003 with Pediatrix Laboratories:

The mean average TSH’s found during the first two quarters of screening with Pediatrixlaboratories in the second half of 2003 were consistent with what would be expectedgiven the previous mean averages obtained from the two labs screening prior to July of03.

------------------------------------------------------------------------------------------------------------

The mean average T4’s have been slightly below that experienced by the prior newbornscreening laboratories. This may be partially explained by the instrument to instrumentvariability, but will continue to be monitored.

Mean Average Initial T4 Values

9.62 8.647.35 7.34

0

5

10

15

Qtr 1 2002 Qtr 3 2003 Qtr 4 2003

Lab/Quarter

mic

rogr

am/d

ecili

ter

Quest UNMC Pediatrix


The mean average PKU values at the new laboratory using a fluorometric instrumentdifferent from the previous laboratory’s instruments, shows relatively consistent meansand stability. The PKU screening method changed in 2004, so future comparisons won’tbe able to be made.

-------------------------------------------------------------------------------------------------------------

For the first time quantitative test result values were available for biotinidase deficiencyscreening, beginning July, 2003. The laboratory has continued to collaborate closelywith the program in establishing cut-offs, reporting protocols, and recommendations. ThePediatric Metabolic Specialists are closely involved with establishing therecommendations. Early in July 2003, the program recognized serious problems withexcessive positive biotinidase screening results. Through collaboration the reportingprotocols were changed. Rather than unnecessarily alarming parents and physicians ofthe need for confirmatory testing for a positive screening result, the laboratory was ableto implement a procedure for recommending repeat testing for potentially heat denaturedspecimens. The laboratory continues to refine its ability to screen for

Mean Average Initial PKU Screening Values

1.022 0.924 0.97 1.015

00.20.40.60.8

11.2

Qtr 1 2002 Qtr 3 2003 Qtr 4 2003

Lab/quarter

mili

gram

s/de

cilit

er

Quest UNMC Pediatrix

Mean Average Initial Biotinidase ResultsFirst two quarters with Pediatrix Screening

Laboratory

46.444

37.139

0

10

20

30

40

50

Qtr 3 2003 Qtr 4 2003

Enzy

me

Ref

eren

ce U

nit

Biotinidase deficiency. The Program, Lab andAdvisory Committeewill monitor over thenext year or two, towatch for statisticalsignificance indifferences betweenenzymatic valuesassociated with thehot/humid season vs.temperate times of the

30


31

When Pediatrix began screening Nebraska’s newborns in 2003, we also had quantitativevalues for the first time for Galactosemia screening. Not only did we begin receivinginformation about the total Galactose, but the screening result provided a measure ofGALT (Galactose-1-phosphate -uridyl-transferase), the enzyme responsible for mostforms of galactosemia. (The screening program does not claim to be able to detect allkinds of galactosemia – such as the rarer forms due to deficiency of epimerase or kinase.) While this information can be extremely beneficial in helping to diagnose the newborn,it can also complicate follow-up, as more newborns who are carriers or identified withduarte mixed heterozygote genotypes or other variants, may be identified on screening aswe search for the affected newborns. In addition for those newborns with positive results from the total galactose and GALT, second-tier testing of DNA is also done andavailable to the newborn's physician to help with diagnosis.

Similarly to screening for biotinidase deficiency, the enzyme values on average are lowerduring the summer months. This will be monitored by the Program and Committee overthe next year or two as well.

Mean Average Value of Initial Total GalactoseFirst 2 quarter results from Pediatrix

3.93

2.6

00.5

11.5

22.5

33.5

44.5

Qtr 3 2003 Qtr 4 2003

mill

igra

ms/

deci

liter

M e a n A v e ra g e V a lu e s fo r In it ia l
G A L T
F irs t 2 q u a r te r re s u lts f ro m P e d ia t r ix

3 2 2 .8 4 6

2 3 2 .4 2 5

0

5 0

1 0 0

1 5 0

2 0 0

2 5 0

3 0 0

3 5 0

Q tr 3 2 0 0 3 Q tr 4 2 0 0 3

mic

rom

oles

/dec

iliter


Home Birth Specimen Collection/Patient Education

In 2002, there were 99 home births reported and in 2003 there were 78 reported to theDepartment of Health and Human Services NNSP. The NNSP works with the families,physicians, hospitals, and laboratories to facilitate getting these infants screened.

In 2002, 95 of 99 HOME BIRTHS had a newborn screening panel completed.

(96% of home births)

In 2003, 65 of 70 HOME BIRTHS had a newborn screening panel completed.

(93% of home births)

In 200299.85% of all occurrent births were screemed (25,478 of 25,515)

In 200399.77% of all occurrent births were screened (26,008 of 26,067 )

In 2002

Of the 37 births that were not screened:

4 of these were home births (2 of these refused, and 2 of these expired)

32 were hospital births that expired within 48 hours of birth

1 moved out of state shortly after birth.- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - --

In 2003

Of the 59 births that were not screened:

5 of these were home births (3 of these refused, and 2 of these expired)

54 were hospital births that expired within 48 hours of birth

32


33

Of the 99 home births reported to the NNSP for 2002, (April 15, 2003 cut-off) themedian age at date of notification of the NNSP was 4 days with the range in age at timeof notification being 1 day to 14 months of age.

Of the 70 home births reported to the NNSP for 2003, (April 15, 2004 cut-off) themedian age at date of notification of the NNSP was 6 days with the range in age at timeof notification being 1 day to 12 months of age.

Ten years of data is included in this annual report in the following sections. Some data isapproximate. The program cannot be certain it knows of every Nebraska birth, as somebirths (e.g. home births) do not become known to the Health and Human Services Systemuntil the birth is registered and occasionally this is past the April 15, annual data cut-offdate.

In 2002, there were 25,515 births reported to the NNSP in Nebraska. In 2003, there were 26,067 births reported to the NNSP in Nebraska.


34

DISORDER SPECIFIC DATA

NEWBORN SCREENING PROGRAM RESULTS FOR NEBRASKA, 1992 – 2001

1994 1995 1996 1997 1998 1999 2000 2001 2002 2003

TotalBirths

23,230 23,552 23,471 23,631 23,862 24,209 24,958 25,109 25,515 26,067

BirthsScreened

23,21399.9%

23,53399.9%

23,45599.9%

23,62799.9%

23,85899.9%

24,11899.9%

24,86399.6%

25,04399.7%

25,47899.85%

26,00899.77%

TotalBirths Lostto Follow-up

17 20 16 4 4 9 6 +(89 notscreened-asexpired@ <48hours.)*

2 +(64 notscreenedasexpired@ < 48hours)



TotalBirths PP

235 216 356 1,140 547 357 412 432 456 415

HomeBirths

62 61 78 90 83 86 109 93 99 70

HomeBirthsScreened

49 49 68 86 81 77 105 88 95 65

HomeBirths Lostto follow-up1

13 12 10 4 2 9 4 2 +(3expired)

2 + (2expired)

3 +(2expired)

*New match with death records beginning in calendar year 2000, to more accurately report #’s actuallyscreened.

BiotinidaseDeficiency

1994 1995 1996 1997 1998 1999 2000 2001 2002 2003

PresumptivePositive

44 32 35 5 3 4 2 4 3 4

ConfirmedNegative

38 31 34 2 2 2 2 1 1 0

Confirmed Positive (Profound)

1 0 1 1 1 1 0 0 2 1

ConfirmedPositive (Partialno tx)

3 1 0 0 0 0 0 0 0 0

ConfirmedPositive (Partial tx)

2 0 0 2 0 1 0 3 0 3


35

CongenitalPrimaryHypothyroidism

1994 1995 1996 1997 1998 1999 2000 2001 2002 2003

PresumptivePositive

156 169 276 771 274 108 114 115 129 89

ConfirmedNegative

150 161 262 746 265 92 104 105 113 75

ConfirmedPositive

6 8 14 10 6 13 8 7 15 11

Confirmatory Lostto follow-up

0 0 0 15 3 3 2* 3* 1* 3*

* Lost to follow-up as baby’s expired.

Galactosemia 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003

PresumptivePositive

N/A N/A 9 43 9 13 12 15 5 3

ConfirmedNegative

N/A N/A(1)

7 29 9 8 8 9 5 0

ConfirmedPositive(Classical)

N/A 1 0 0 0 0 1 0 0 1

ConfirmedPositive, Duarte(not treated)

N/A N/A 1 6 0 3 1DuarteHmzgt

0 0 1

ConfirmedPositive, Duarte(treated)

N/A N/A 0 6 0 2 2DuarteMixedHtrzgt.(1 tx’d 1year)

6DuarteMixedHtrzgt.

0 1

Confirmed Neg.Classical/CPcarrier

N/A N/A 1 1 0 0 8 0 0 0

Confirmatorytesting not done1

N/A N/A 0 1 0 0 0 0 0 0


36

Hemoglobinopathies 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003SICKLE CELLDISEASE FSScreened positive

N/A N/A 1 3 1 3 2 4 4 5

Confirmed Positive

N/A N/A 1 3 1 3 2 4 4 5

SICKLE CELLTRAIT FASScreenedpositive

N/A N/A 16 88 54 120 139 146 156 150

Confirmed Positive

N/A N/A 16 40 54 60 104 102 111(+1 othervariant)

102

Diagnosis unknown

N/A N/A N/A 48 0 60 35 44 45 48

OTHERCLINICALLYSIGNIFICANTScreenedpositive

N/A N/A - - 1 3 14 21 2 1

Confirmed Positive-

N/A N/A - - 1 1 2 3 2 1

OTHERHEMOGLOBINVARIANTSScreenedpositive

N/A N/A - - 30 228 106 145 150 153

MCAD 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003Screened Positive N/A NA N/A N/A N/A N/A N/A N/A 3* 3ConfirmedNegative

N/A N/A N/A N/A N/A N/A N/A N/A 2 3

ConfirmedPositive

N/A N/A N/A N/A N/A N/A N/A N/A 1 0

* Mandatory screening for MCAD began 7/01/2002. Prior to that about 34% of newborns were voluntarilyscreened in Nebraska in 2000 and 2001, but only numbers screened were reported to the NNSP.


37

Phenylketonuria (PKU) 1994 1995 1996 1997 1998 1999 2000 2001 2002 2003PresumptivePositive

35 15 14 137 43* 3 6* 4 3 7*

ConfirmedNegative

32 14 13 106 40 0 2 2 1 1

Confirmed PositiveClassical PKU

3 1 1 3 2 1 1 1 1 2

ConfirmedPositiveHyperphe

4 2(tx’d)

1

transient

1 1 3

ConfirmedPositivetransienttyrosinemia

24 1 0 0 0

*1998: One confirmatory testing not done – residence in another state *2000 and 2003: One each year for whom confirmatory testing was not done as the baby’s expired


38

Supplemental (Tandem Mass Spectrometry ScreeningResults)

Beginning with Pediatrix screening July 1, 2003, the Nebraska Newborn ScreeningProgram acquired the ability to track newborns supplemental screens, and to facilitateconnecting the baby’s doctor with an appropriate specialist with abnormal results werereported. Prior to that time, although some newborns received supplemental screening,only the MCAD results were reported to the program. The data below demonstrates thefirst six months experience with MS/MS screening. In addition to this experience, theprogram has gained considerably from the world class expertise Pediatrix Screeninglaboratory has to offer, as well as from their screening and reporting protocols. Theprogram staff continue to increase our understanding of the screening results. Thisimproves our communication to the newborns’ physicians of an appropriate level ofurgency for repeat or confirmatory testing and consultation with Nebraska’s Pediatricspecialists in metabolism.

July 1-December 31, 2003Abnormality on screen # of

newbornsConfirmed

+Confirmed– (normal)

Follow-uppending

C3 Propionylcarnitine elevated 24 0 21 3C14:1 tetradecenoylcarnitine elevated 1 0 1 0C5OH 3-hydroxyisovalerylcarnitine 3 0 2 1Tyrosine elevated 8 0 7 1Generalized Amino Acid elevations 2 0 2 0C8 Octanoylcarnitine elevated 2 0 2 0C3 and tyrosine elevated 1 0 1 0C8 and tyrosine elevated 1 0 1 0C4 and tyrosine elevated 1 0 1 0C3 and C3/C2 ratio and C3/C16 ratio 1 0 1 0C14:1 and C14 myristoylcarnitine 1 0 1 0Methionine elevated 4 0 4 0C3 and Methionine 1 1 tx’d 0 0C5DC Glutarylcarnitine elevated 1 0 1 0C4 Butyrylcarnitine and C4/C3 ratio 1 1 tx’d 0 0


39

Intervention Data

The intervention data is one of the most important measures for determining how well weare doing as a system to ensure timely treatment of affected infants. The following datais grouped by disorder and shows Nebraska’s averages/ranges for 2002 and 2003.

The data also includes national averages/ranges according to the most recent availabledata “National Newborn Screening Report -2000" available at the National NewbornScreening and Genetics Resource Center’s web site:

http://genes-r-us.uthscsa.edu/resources/newborn/00chapters.html

It is interesting to look at how Nebraska compares to the rest of the country on thismeasure. States and territories included in the averages in this report, have birth numbersfrom fewer than 2,000 per year to around 500,000 per year. Likewise, resourcesnecessary to complete testing, follow-up, confirmation, diagnosis and treatment also varyfrom state to state. The intervention data is one kind of outcome data that can, over time,help to identify how well a state’s system is working in newborn screening. The meanaverage age at time of treatment can be an indicator of whether adequate resources aredevoted to each of the components of a comprehensive newborn screening system:education, specimen collection handling and transportation procedures, laboratoryprocedures, follow-up and referral procedures, confirmation and treatment.

Reviews of the following data must take into consideration that exact comparisons cannot be made from the data available.


40

Biotinidase Deficiency

Nebraska 2002 / 2003 Intervention data U.S. 2000 Intervention data(most recent national data available)

Goal age for treatment initiation: Upon Diagnosis

2002/2003# diagnosed/treated: 2 / 4 (all partials/treated)

Mean Avg. age at Tx. Initiation: 42.5 / 8.5 days

Range of ages at Tx. Initiation: 14-70 / 8-9 days

24 States/territories screening for biotinidasedeficiency

18 cases of biotinidase deficiency reported

3 or 17% treated by 14 days of age1 or 6 % treated by 15-21 days of age6 or 33% treated at > 21 days of age8 or 44% age of treatment unknown/not reported

Range of ages @ tx.: 9 - > 21 days

From Nat’l NBS report, table 8.06

Congenital Primary Hypothyroidism


Goal age for treatment initiation: As early as possible, upon diagnosis.

2002 / 2003# diagnosed/treated: 15 / 11

Mean Average Age atTreatment initiation: 12.2 / 28.3 days age

Range of ages at Treatment initiation: 0-68 / 4-126 days

53 States/territories screening for PrimaryHypothyroidism

1,663 Cases of Primary Hypothyroidism detected

Age at treatment:562 or 34% treated by 12 days of age264 or 16% treated between 13-21 days of age298 or 18% treated at > 21 days539 or 32% age at tx. unknown or not reported

Range of ages at treatment initiation <3 to > 21

From National NBS report, Table 4.12


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Galactosemia


Goal age for treatment initiation:As early as possible, upon diagnosis. Dietintervention upon positive screening result.

2002 / 2003# diagnosed/treated classical and 0 / 2Duarte/mixed heterozygote

Mean avg. Age at treatmentInitiation: n/a / 4

Range of ages at Tx. Initiation: n/a / 4 – 4 days

52 States/Territories screening for Galactosemia

60 cases of classical galactosemia identified

Age at treatment:17 cases or 28% treated at: 4 days or less 50 cases or 83% treated by: 21 days of age2 cases or 3% treated at: > 21 days of age8 cases or 13% age at tx: unknown or not reported

Range of ages at treatment initiation: < 3 days - > 21

(Age at treatment for galactosemia variants notreported nationally.)

From National NBS report, Table 5.08

MCAD - Medium Chain Acyl Co-A Dehydrogenase Deficiency

Nebraska 2002 / 2003 Intervention data U.S. 2000 Intervention DataGoal age for treatment / intervention initiation: As early as possible, upon positive screening result – parent education/ consultation. 2002 / 2003# diagnosed/treated: 1 / 0

Age at intervention: 26 days * / n/a * Newborn screened prior to required screening,and not reported to NNSP till 26 days.

No data reported for MCAD Deficiency

PKU - Phenylketonuria (Classical PKU)


Goal age for treatment initiation: As soon as possible but no later than 7-10 Days after birth.* 2002 / 2003# classical PKU: 1 / 2Hyperphe: 1 / 3Avg. Age at treatment classical: 6 / 4 Range ages at treatment:Avg. Age at treatment hyperphe: 5 / 4.5Range ages at treatment: 5 / 4 – 6100% treated by 7 days of age.

Cases of classical phenylketonuria 189

55 or 29% treated by 7 days of age68 or 36% treated between 8-14 days of age26 or 14% treated between 15-21 days of age13 or 7% treatment at > 21 days of age 27 or 14% age at treatment unknown or not reported

*NIH Concensus Statement October/25/2000: Phenylketonuria: Screening and Management/ Nat’l data 3.10


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Hemoglobinopathies:

Nebraska 2002 / 2003 Intervention data U.S. 2000 Intervention data1

Goal age for treatment initiation:2

60 days of age or less

# Cases diagnosed/treated 2002 / 2003FS 4 / 5

SC 2 / 0 Mean/Average age (days) at treatment: FS 36 / 37.4 SC 35 / n/a

Range of ages (days) at treatment: FS 26-48 / 20-55 SC 25-45 / n/a

100% treated by 60 days of age.

Cases of sickle cell disease confirmed (FS): 885

# cases diagnosed by 60 days of age: 485 or 55%

# of cases for which age at treatment was unknownor not reported: 315 or 36%- - - - - - - - - - - - - - - - - - Cases of sickle hemoglobin C disease (SC)confirmed: 442

# of cases diagnosed by 60 days of age: 304 or 69%

# of cases for which age at diagnosis was unknownor not reported: 33 or 7.5%

NOTE: Age at treatment is measure for Nebraskadata.

NOTE: National data does not report age attreatment, but reports age at DIAGNOSIS.

1National intervention data reported in these day ranges 0-15, 16-30, 31-45, 46-60, 61-75, 76-90 >90. From tables 13.02 and 13.042 Treatment guideline from Α Clinical Practice Guideline #6, Sickle Cell Disease: Screening, Diagnosis, Management and Counselingin Newborns and Infants, U.S. Dept. Of Health and Human Services, Public Health Service, Agency for Health Care Policy andResearch.


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Part IV

PLANS

Screening Panel Expansion: Nebraska now screens nearly 100% ofnewborns for six disorders and about 95% of newborns for an additional 26 organic acid,fatty acid and amino acid disorders that can be detected on tandem mass spectrometryscreening. (Counting sub-classes of disorders this number approaches near fiftydisorders). In many states there are a number of disorders on the horizon that have eitherbeen added, or are being evaluated for their appropriateness for addition to requiredscreening panels. Some of these are: Congenital Adrenal Hyperplasia, Cystic Fibrosis,Diabetes Type I, and disorders of immunodeficiency such as Severe Combined ImmuneDeficiency (SCID). Nebraska awaits the ranking of disorders from an American Collegeof Medical Genetics project funded by the Maternal and Child Health Bureau. In themeantime, the Advisory Committee has already begun to evaluate some of the abovedisorders to determine if a recommendation to the Department will be in order. TheProgram and Committee will consider what resources are needed to effectivelyimplement screening for any additional disorder.

State Genetic Planning: The program will continue to look for ways toimplement the recommendations from the State Newborn Screening and Genetics Plan.

CONTINUING ACTIVITIES

Education: Educational activities from the NNSP will continue throughpublication of the Annual Report, and as needed through hospital and physicianmailings. Opportunities for on-site education are always available upon request fromhospitals. Recommendations for improving the Newborn Screening patient educationmaterials will be sought.

Laboratory Testing: The contract with Pediatrix Screening laboratory is aone year contract, renewable for five years. Annual renewals are dependent on theDepartment’s assessment of contractor's performance.

Follow-up/Tracking and Referral: Procedures used by the NNSP totrack every newborn to be sure they received an appropriate screen, to follow-up on alltransferred, drawn early, unsatisfactory, and presumptive positive specimens, facilitateconfirmatory testing and referral for diagnostic and treatment services will continue. Theduties of the Program’s Administrative Assistant have changed to include moreassistance to the follow-up coordinator since the expansion of NBS into the tandem massspectrometry arena.


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Confirmatory Testing: The program will continue to work with specialistsand the Newborn Screening Advisory Committee to ensure procedures recommended forconfirmatory testing are communicated effectively to practitioners. As the screeningpanel expands, new information will be developed and shared to facilitate practitioner’sunderstanding of “next steps” when a newborn requires further testing to determine themetabolic condition.

Diagnosis: Practitioner’s are strongly urged to consult with the pediatric specialistappropriate to the disorder for which a newborn has a positive screening result. Theprogram will help the newborn’s primary care provider know who is available to contactin these circumstances.

Treatment: Access to treatment was an issue the program had requested theNewborn Screening and Genetics Planning Grant Advisory Committee to review. Funding sources exist for pharmaceutically manufactured foods and formulas for patientswith PKU. However, there are some known gaps, e.g. funding for sickle cell and sicklecell trait genetic services, payment sources for routine blood phenylalanine levels forchildren and women of childbearing age. There are other areas for which we don’t knowthe issues with accessing treatment, e.g. affordability/insurance coverage of levothyroxinfor patients with congenital primary hypothyroidism. The Program will continue tomonitor the issues associated with access to treatment.

Quality Assurance Monitoring: The Program and Advisory Committeewill continue to review and act on quarterly quality assurance plan data as well asrespond to trends identified with any problems in the interim periods.


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SECTION IINEWBORN HEARING SCREENING

WHY IS THIS REPORT IMPORTANT?

Significant hearing loss is the most common birth defect with an estimated incidence rateof one to three per thousand live births. Left undetected, hearing loss in infants cannegatively impact speech and language acquisition, academic achievement, and socialand emotional development. Before newborn hearing screening, many hearing losseswere not diagnosed until 2 ½ to 3 years of age. If detected early, however, the negativeimpacts can be diminished, and even eliminated, through early intervention. Recentstudies have consistently shown that children who were identified with a hearing losslater in childhood have delays in the development of speech, language, social andacademic skills compared with those identified during the first six months of age.

Newborn hearing screening is an essential preventative public health program. It meetsthe following prerequisites for a population screening program –

• Condition is sufficiently frequent in the screened population• Condition is serious or fatal without intervention• Condition must be treatable or preventable• Effective follow-up program is possible

In 2000, the Infant Hearing Act established newborn hearing screening in Nebraska. Thestatute requires hospitals to educate parents about newborn hearing screening,encouraged hospitals to voluntarily begin screening newborns for hearing loss, and, byDecember, 2003, to include hearing screening as part of its standard of care and toestablish a mechanism for compliance review. The Act also requires that regulations bepromulgated to mandate newborn hearing screening if, by December 2003, less than 95%of newborns in the state were receiving a hearing screening. This report presents thestatus of newborn hearing screening in Nebraska during 2002 and 2003 (see Part III,Nebraska Newborn Hearing Screening Data for 2002-2003).

WHAT IS NEWBORN HEARING SCREENING?

Newborn hearing screening requires objective physiologic measures to detect hearingloss in newborns and young infants. There are two basic measures that birthing hospitalsin Nebraska use to screen newborns for hearing loss. Both are easily recorded innewborns and are noninvasive measures of physiologic activity that underlie normalauditory functioning.

The most frequently used screening technique is measurement of otoacoustic emissions,or OAEs. A miniature earphone and microphone are placed in the newborn’s ear canal,low intensity sounds are presented, and responses produced by the inner ear aremeasured. The second screening technique, Auditory Brainstem Response, or ABR, uses


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band aid-like electrodes to detect certain brainwaves in response to sounds that arepresented by a miniature earphone. For both methods, the response of each ear ismeasured. OAE and ABR are both reliable and accurate. Screening can occur as early as12 hours of age, preferably with the newborn sleeping, and averages from five to 20minutes to complete.

If a response is not detected for one or both ears, the result is a “refer” (did not pass). A“refer” to the screening test indicates that a hearing loss may exist but there are also otherfactors that may have contributed. A “refer” does indicate that a second screening isnecessary to determine if the other factors, such as vernix in the ear canal, fluid in themiddle ear cavity, movement, equipment failures, or inexperience of the tester,contributed to the initial result. A “refer” on the second screening usually indicates theneed for a diagnostic audiological evaluation to confirm or rule out a hearing loss and, ifhearing loss is present, to begin to identify the type and degree of the loss.

Each birthing hospital has established a newborn hearing screening protocol thatidentifies how the screening will be administered, the recording and reportingprocedures, how refers will be handled, i.e., re-screen as an inpatient with the same ordifferent screening technique or re-screen as an outpatient, and quality assurancemeasures.


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Part I

THE NEWBORN HEARING SCREENING SYSTEM

System Elements

The newborn hearing screening system in Nebraska is composed of five functionalelements working together to fulfill the purposes of the Infant Hearing Act (Neb. Rev.Stat. §71-4735):

• “To provide early detection of hearing loss in newborns at the birthingfacility, or as soon after birth as possible for those children born outside of abirthing facility,

• To enable these children and their families and other caregivers to obtainneeded multidisciplinary evaluation, treatment, and intervention services atthe earliest opportunity and

• To prevent or mitigate the developmental delays and academic failuresassociated with late detection of hearing loss; and

• To provide the state with the information necessary to effectively plan,establish, and evaluate a comprehensive system for the identification ofnewborns and infants who have a hearing loss.”

The five functional elements of the newborn hearing screening system are: HearingScreening at Birth, Confirmatory Testing, Medical Evaluation, Early Intervention, andTracking and Surveillance. One or more groups of professionals in a variety of settingsassume responsibility of each element of the system. An overview of each of theelements and the primary activities are presented below. Included in this discussion arethe Nebraska Revised Statute citations and the recommended protocols established by theDepartment of Health and Human Services through the Nebraska Newborn HearingScreening Advisory Committee.

Hearing Screening at Birth

Birthing hospitals in Nebraska have five primary activities related to screening thehearing of newborns:

1. The parent(s)of newborns are educated about the hearing screening, the likelihoodof hearing loss in newborns, the importance of follow-up, community resources(including early intervention services), and normal auditory, speech and languagedevelopment (Neb. Rev. Stat. §71-4740, Recommended Protocols). If risk factorsare present, hospital staff educate parents to evaluate hearing every six months. Note: The Department of Health and Human Services is responsible for educatingthe parent(s) for newborns not born in a birthing facility (Neb. Rev. Stat. §71-4740, Recommended Protocols).

2. A hearing screening test is part of each birthing hospital’s standard of care fornewborn, effective 12/1/03 (Neb. Rev. Stat. §71-4742). Following hospital


49

protocol for the procedure, each newborn’s hearing in both ears is screenedduring birth admission using OAE and/or ABR screening techniques. A secondinpatient screening is conducted within one to three weeks if the baby “refers” onthe first screening (Recommended Protocols). The outpatient re-screening forthose that “refer” during birth admission, may occur at the birthing facility or at aconfirmatory testing facility.

3. A mechanism for compliance review is established for each birthing facility (Neb. Rev. Stat. §71-4742).

4. Results of the hearing screening for each newborn are reported to the newborn’sPrimary Care Provider. Weekly tracking reports are submitted to the NNHSP thatidentify newborns who “refer,” transfer, or discharge without a hearing screening. (Recommended Protocols).

5. Annual reports are submitted to the NNHSP that indicate the following numbers:born in the birthing facility, recommended for screening, received screeningduring birth admission, passed screening, did not pass screening, andrecommended for monitoring and follow-up (Neb. Rev. Stat. §71-4739).

Confirmatory Testing

Newborns who have referred for one or both ears on the second hearing screening shouldreceive an audiological diagnostic evaluation prior to reaching three months of age. Thepurpose of this evaluation is to confirm the presence of a hearing loss and to determinethe type and degree of the hearing loss. The primary activities that comprise theconfirmatory testing component are:

1. An initial diagnostic evaluation using either OAE or ABR conducted as early aspossible after referral, preferably before the infant is six weeks old. If the infant“passes” this initial part of the evaluation (outpatient re-screening), no furtherevaluation is usually needed (Recommended Protocols).

2. If the infant “refers” on the initial part of the evaluation, the testing oftenproceeds immediately to a comprehensive diagnostic evaluation. This evaluationminimally includes measures of middle ear function (tympanometry), auditorysensitivity (air- and bone-conducted ABR), confirmatory measures (parentobservations), and, depending upon the developmental age, behavioralaudiological assessment (Visual Reinforcement Audiometry). Other measuresmay be included, as indicated (Recommended Protocols).

3. Depending upon a variety of factors, referrals are made for further evaluation,diagnosis, treatment, and services. These referrals may be made to medicalspecialists and/or Early Intervention Services (Recommended Protocols).

4. Results of the initial and comprehensive audiological diagnostic evaluation areprovided to the Primary Care Physician and NNHSP (Recommended Protocols).

5. Annual reports are submitted to the NNHSP that indicate the number ofnewborns: who return for follow-up testing, who do not have a hearing loss andwho do have a hearing loss (Neb. Rev. Stat. §71-4739).


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Medical Evaluation

The infant’s Primary Care Provider (PCP) has the key role in the follow-up for those who“refer” on the initial hearing screening during the birth admission. Building on theconcept of a pediatric medical home (Guidelines for Pediatric Medical Home Providers,AAP), the PCP has the primary role in identifying and accessing all the medical and non-medical services needed to help children and their families achieve their maximumpotential. The primary activities that comprise the medical element of the newbornhearing screening system are:

1. Birthing hospital notifies PCP of the newborn’s hearing screening results(Recommended Protocols).

2. NNHSP notifies PCP about the hearing screening status and need for follow-upevaluation for those that did not pass the inpatient hearing screening or weredischarged without a screening (Recommended Protocols).

3. PCP or designee per hospital procedure informs parents of hearing screeningresults and need for re-screening (Recommended Protocols).

4. PCP (or staff), hospital, or test provider schedules re-screen appointment to becompleted in one to three weeks and notifies parents (Recommended Protocols).

5. Provider of outpatient re-screening notifies PCP of results (RecommendedProtocols).

6. PCP notifies NNHSP of outpatient hearing re-screening results (RecommendedProtocols).

7. If “refer,” PCP makes referral for comprehensive diagnostic evaluation, educatesparents about need for evaluation, and makes referral to Early Interventionservices (Recommended Protocols).

8. If hearing loss is confirmed, PCP or diagnostic evaluator refers newborn/infantfor complete medical and/or neuro-sensory evaluation and Early InterventionServices (Recommended Protocols).

Early Intervention

Early Intervention is an individualized program of services and supports based on theneeds of the individual and family. Part C of the Individuals with Disabilities EducationAct (IDEA) authorizes the creation of early intervention programs for infants andtoddlers with disabilities. In Nebraska, the Early Development Network (EDN) providesservice coordination for eligible families to identify and link with needed services, towork with multiple providers to ensure that services are provided, and to becomecoordinators of services in the future. An important aspect of early intervention forinfants with a hearing loss is the selection and fitting of amplification. The recommendedprotocols for the primary Early Intervention activities within the newborn hearingscreening system are:

1. PCP or diagnostic evaluator makes referral to Early Development Network (EDN).2. EDN reviews for eligibility.3. If eligible, EDN may provide assistance with diagnostic evaluation and treatment.4. Services Coordinator may facilitate obtaining services from otologists, audiologists,

community services, and others.


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Tracking and Surveillance

The Nebraska Newborn Hearing Screening Program has been developed based on therequirements identified in the Infant Hearing Act (Neb. Rev. Stat. §71-4735 - §71-4744)and the NNHSP Advisory Committee recommended protocols to “…determine andimplement the most appropriate system…to track newborns and infants identified with ahearing loss” and “…to effectively plan and establish a comprehensive system ofdevelopmentally appropriate services for newborns and infants who have a potentialhearing loss or who have been found to have a hearing loss and shall reduce thelikelihood of associated disabling conditions” (Neb. Rev. Stat. §71-4737). Activities ofthe NNHSP include:

1. Develop, implement, and monitor statewide systems to track newborns with or at-risk of hearing loss (Neb. Rev. Stat. §71-4737) and adopt and promulgate rulesand regulations to implement the Infant Hearing Act (Neb. Rev. Stat. §71-4742and §71-4744).

2. Gather required data and generate annual reports (Neb. Rev. Stat. §71-4739 and§71-4741).

3. Establish guidelines for referral to early intervention services (Neb. Rev. Stat.§71-4743).

4. Educate parents with out-of-hospital births about newborn hearing screening(Neb. Rev. Stat. §71-4740)

5. Apply for all available federal funding to implement the Infant Hearing Act (Neb.Rev. Stat. §71-4738).

System Protocols

Newborn hearing screening is one aspect of a comprehensive, integrated Early HearingDetection and Intervention (EHDI) system. The first three principles of the Year 2000Position Statement: Principles and Guidelines for Early Hearing Detection andIntervention Programs (Joint Committee on Infant Hearing, 2000) are:

1. All infants have access to hearing screening using a physiologic measure. Newborns who receive routine care have access to hearing screening during theirhospital birth admission. Newborns in alternative birthing facilities, includinghome births, have access to and are referred for screening before 1 month of age. All newborns or infants who require neonatal intensive care receive hearingscreening before discharge from the hospital. These components constituteuniversal newborn hearing screening (UNHS).

2. All infants who do not pass the birth admission screen and any subsequentrescreening begin appropriate audiologic and medical evaluations to confirm thepresence of hearing loss before 3 months of age.

3. All infants with confirmed permanent hearing loss receive services before 6months of age in interdisciplinary intervention programs that recognize and buildon strengths, informed choice, traditions, and cultural beliefs of the family.

These three major principles serve as the foundation for the screening, referral, and


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audiological evaluation protocols developed by the Nebraska Newborn HearingScreening Advisory Committee in 2001. The timelines established by the NNHSPAdvisory Committee are for hearing screening to be completed by 1 month of age,audiological diagnostic evaluation to begin prior to six weeks of age and completed priorto three months of age, and appropriate early intervention activities to be initiated by sixmonths of age. Highlights of the current protocols include:

Screening Protocol

1. Hospital provides education to parent(s) about hearing screening, likelihood ofhearing loss, follow-up procedures, and normal auditory, speech and languagedevelopment. For out-of-hospital births, the Nebraska Newborn HearingScreening Program (NNHSP) provides this education.

2. Hospital screens newborn using OAE and/or ABR methods following hospitalprotocol. (If newborn “refers,” a second inpatient screening is encouraged)

3. Hospital informs Primary Care Physician of hearing screening results.4. Primary Care Physician informs the newborn’s parent(s) of the hearing screening

results.5. If newborn “refers” on inpatient hearing screening or discharged prior to valid

screening: • Hospital schedules an outpatient re-screen (optional)• Hospital completes and submits tracking form weekly to notify NNHSP of

results• NNHSP sends letter and follow-up reporting form to Primary Care Physician• Outpatient re-screening scheduled by Primary Care Physician and/or parent in

1-3 weeks• Primary Care Physician notifies NNHSP of the re-screening results• If re-screening results are not received within two weeks of initial letter,

NNHSP sends a second request to Primary Care Physician and sends a letterto the newborn’s parent(s) encouraging a re-screening.

5. If newborn is transferred prior to screening:• Birth hospital notifies receiving hospital (NICU) that screening not completed• Birth hospital notifies NNHSP of transfer on weekly tracking form• NNHSP sends follow-up form to receiving hospital• Receiving hospital screens infant using OAE and/or ABR methods following

hospital protocol. (If newborn “refers,” a second inpatient screening is encouraged)• Receiving hospital notifies Primary Care Physician and NNHSP of screening

results6. If parent(s) refuse hearing screening:

• Hospital notifies Primary Care Physician of refusal• Hospital documents refusal

Referral Protocol

1. For the infants who have referred on a second hearing screening, the PrimaryCare Physician will make a referral for an audiological diagnostic evaluation.


53

2. The Primary Care Physician will also make a referral to Early InterventionServices (Early Development Network) to determine eligibility and possibleassistance.

3. If a hearing loss is identified from the audiological diagnositc evaluation, referralsneed to be made for a comprehensive medical and/or neuro-sensory geneticsevaluation to identify the etiology of the hearing loss. Appropriate treatment andintervention approaches will be implemented based on all of the evaluations. There are many causes for hearing loss in newborns and infants, ranging frommiddle ear dysfunction to viral infections during pregnancy to genetic deafness. About half of congenital deafness is hereditary (Northern and Downs, 1991). Genetic deafness may be syndromic, in which there are other medical problems inaddition to the hearing loss, or nonsyndromic, where hearing loss is the onlyobvious medical condition.

Audiological Diagnostic Evaluation Protocol

1. The initial diagnostic measure of peripheral auditory status is a form of outpatientscreening and should be completed prior to six weeks of age to minimize the needto sedate the infant. The majority of infants should pass at this stage and nofurther testing will be needed. One of the following procedures will be used atthis stage:• Transient Evoked Otoacoustic Emissions (TEOAEs): half-octave bands

centered at 1.5, 2, 3, and 4 kHz in response to a click• Distortion Product Otoacoustic Emissions (DPOAEs): f2 frequencies from 2 to

6 kHz in half-octave steps for primary levels of 65/55 dB SPL for L1/L2.• Click-evoked Auditory Brainstem Response (ABRs) at 30 dB HL

2. If an infant does not pass the initial diagnostic procedure, comprehensivediagnostic procedures should be initiated immediately. These procedures mayoccur over a series of evaluation sessions to obtain a complete description of theinfant’s auditory capabilities. Measures of Middle Ear Function• Tympanometry with a 226 Hz probe tone (higher frequency probe tone

recommended) for an objective measurement of the tympanic (eardrum)membrane mobility and middle ear pressure.

• Acoustic reflex (middle ear muscle reflex) measured with 1 and 2 kHzeliciting stimuli, as indicated by other clinical measures.

Measures of Auditory Sensitivity• ABR measurements using click stimuli to obtain information about thresholds

and configuration of the hearing loss. • ABR measurements using tone-burst stimuli for low (250 or 500 Hz), middle

(1 or 2 kHz) and high (4 kHz) frequencies provide information about hearingsensitivity as a function of frequency. The frequency-specific measures mayalso be used for the selection of appropriate amplification.

• Bone-conducted ABR measurements using clicks and/or tone bursts provideinformation about the magnitude of a suspected conductive hearing loss for


infants with middle ear dysfunction. • Steady-State Evoked Responses (SSEP) or Auditory Steady State Response

(ASSR) is currently gaining acceptance for inclusion in the diagnostic testbattery. An advantage of ASSR includes obtaining frequency-specificestimates of threshold with severe-to-profound hearing loss.

Confirmatory Measures• TEOAEs and DPOAEs measures, as part of the diagnostic test battery, may

serve to confirm the degree and configuration of hearing loss determined withABRs.

• Parent/Primary Caregiver Observations are an important check to assure thatauditory sensitivity is being estimated appropriately.

Behavioral Audiological Assessment (six months developmental age and older)• Visual Reinforcement Audiometry (VRA) yields reliable behavioral threshold

information. After the child is conditioned to associate sound with a visualreinforcer, head turns toward the reinforcer in response to an auditorystimulus is a reliable response. The use of insert earphones in the ear canalcan yield ear-specific thresholds.

Amplification Assessment Protocol

1. Factors to consider in selecting and fitting amplification for infants include:• Appr priate amplification must be selected without feedback from the child

regarheard

• Hearthereinfan

• Objeheari

2. Hearingmeasures• Presc

speciaid re

• Real-Diffethe hchara

• Verifusingbehavinfandevel

• Pracas ea

o

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ding the quality of the sound (too loud, too soft, unclear, distorted, etc.) through the hearing aid.

ing loss in infancy occurs prior to learning speech and language,fore, contextual clues and world knowledge are not available for thet to understand what is being said.ctive techniques must be used to customize the selection and fit of theng aid to the particular auditory needs of the infant. aid selection and fitting procedures must include the following:riptive Algorithms, such as the Desired Sensation Level (DSL) techniquefically for infants and very young children, to objectively set the hearingsponse characteristics to make speech audible.Ear Measurements for young children, such as Real Ear-to-Couplerrence (RECD), allow the audiologist to set the response characteristics ofearing aid by correcting for the infant’s ear canal/middle ear transfercteristics and the customized ear mold.ication of Hearing Aid Response Characteristics should be measured real-ear or test-box measurements incorporating RECD. Changes inior, such as parent/caregiver feedback about the responsiveness of the

t while wearing the hearing aid and observation of speech and languageopment, should be monitored to determine the benefits of amplification.tical Considerations for the safe and successful use of amplification, suchrmold material, tamper-resistant battery doors, volume control covers,


55

etc., and Technical Considerations, such as type of microphone (directional oromnidirectional), circuitry (digital, programmable, or analog), and FMcompatibility, must be considered in the hearing aid selection process.

Special Circumstances

1. Late Onset or Acquired Hearing Loss associated with risk factors such asprogressive hereditary hearing loss, cytomegalovirus (CMV), craniofacialanomolies, meningitis, etc., may not be detected by hearing screening conductedprior to hospital discharge. Screening and/or evaluation of auditory function canand should be accomplished at any time when risk factors are present or whenparent(s)/caregiver(s) express concern about the child’s responsiveness to sound.

2. Auditory Neuropathy is a condition in which the peripheral (sensory) portion ofthe auditory system is functioning normally but the central (neural) portion of thesystem is not. Diagnosis is made when OAEs are present but ABRs are eithergrossly abnormal or absent. Currently it is a matter of debate about which ofseveral habilitative options is most appropriate.

Part II


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MAJOR INITIATIVES FOR 2002 AND 2003

Federal MCHB Grant for System Integration andEducation

Neb. Rev. Stat. §71-4738 requires that the Nebraska Newborn Hearing ScreeningProgram (NNHSP) apply for all available federal funds. NNHSP has applied for andreceived Universal Newborn Hearing Screening (UNHS) grant funding from the federalMaternal and Child Health Bureau (MCHB). NNHSP received $55,000 in 2002 and$45,000 in 2003. The grant funds were used for:

• Development of a computer-based surveillance and tracking system to be used byall hospitals conducting newborn hearing screening and the NNHSP to facilitatefollow-up. An electronic data system would contribute greatly to the ability touse data for quality assurance analysis and to increase the accuracy of informationfor follow-up purposes. A Request-for-Proposal (RFP) was developed and, aftervendor demonstrations, the NNHSP Advisory Committee and EvaluationCommittee recommended not purchasing an existing tracking and surveillancesystem because of cost. Development of an integrated web-based system tofacilitate entering the data at the hospital was begun with HHSS InformationServices and Technologies, Newborn Screening and Genetics Program, BirthCertificate Registry and Birth Defects Registry program staff. Work on thatproject was discontinued when an RFP was issued for a web-based vital statisticssystem to comply with CDC requirements. Hearing screening was included as anoptional module in the RFP.

• Increased professional education and public awareness of the importance ofnewborn hearing screening. During 2002 and 2003, MCHB funds were used to: • develop and disseminate parent informational brochures to hospitals• revise and disseminate the NNHSP Resource Directory• conduct annual educational needs assessments of hospital staff• conduct training and technical assistance site visits to 11 hospitals• purchase and disseminate parent education videotapes in English and Spanish

to hospitals• develop and disseminate semi-annual newsletters• conduct a series of parent focus groups• conduct a one day conference “Baby…Can You Hear Me?” for 141

participants on November 1, 2002, and • support the registration of eight audiologists to participate in a pediatric

audiology workshop “Auditory Evaluation for Infants Referred from NewbornHearing Screening.”

Nebraska Health Care Cash Fund Grant for Hearing Screening Expansion

The NNHSP applied for and received $95,002 in grant funds from the Nebraska Health


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Care Cash Fund from which a sub-grant process was developed. The sub-grants were toprovide $2,000 to birthing hospitals with fewer than 500 births per year to assist with thepurchase of newborn hearing screening equipment and program development during2002 and 2003. Sub-grants of $2,000 each were awarded to 24 hospitals in 2002 and to14 hospitals in 2003. The birthing hospitals that were awarded sub-grant funds had atotal of 2,186 births in 2003, an average of 58 births per hospital. The 38 hospitals are:

Brown County Hospital AinsworthBox Butte General Hospital AllianceWest Holt Memorial Hospital AtkinsonBeatrice Community Hospital BeatriceDundy County Hospital BenkelmanCallaway District Hospital CallawayTri Valley Health Systems CambridgeLitzenberg Memorial County Hospital Central CityCozad Community Hospital CozadCrete Area Medical Center CreteJefferson Community Health Center FairburyCommunity Medical Center Falls CityWarren Memorial Hospital FriendFillmore County Hospital GenevaGordon Memorial Hospital GordonGothenburg Memorial Hospital GothenburgPerkins County Community Hospital GrantThayer County Health Services HebronHenderson Health Care Services HendersonPhelps Memorial Health Center HoldregeChase County Community Hospital ImperialCommunity Hospital McCookKearney County Health Services MindenSt. Mary’s Hospital Nebraska CityAvera St. Anthony’s Hospital O’NeillValley County Hospital OrdAnnie Jeffrey Memorial Health Center OsceolaPender Community Hospital PenderHoward County Community Hospital St. PaulAlegent Health Memorial Hospital SchuylerMemorial Hospital SewardMemorial Health Center SidneyBrodstone Memorial Hospital SuperiorCommunity Memorial Hospital SyracuseJohnson County Hospital TecumsehProvidence Medical Center WayneSt. Francis Memorial Hospital West PointYork General Hospital York


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The funds remaining from the Nebraska Health Care Cash Fund grant have been approved andcommitted for purchase of the optional newborn hearing screening module with the State’s web-based vital records system.

Education

Neb. Rev. Stat. §71-4740 requires that parents be educated on the importance of a hearingscreening test and necessary follow-up, including information about the hearing screening, thelikelihood of a hearing loss in newborns, follow-up procedures, community resources, andnormal auditory, speech and language development. The NNHSP has developed a parenteducation brochure that is provided free-of-charge to all birthing hospitals. The brochure,available in English and Spanish, provides statewide consistency in the quality of informationbeing provided to parents. In addition, the English, Spanish, and closed-captioned versions ofthe videotape “A Parent’s Guide to Newborn Hearing Screening” was provided free-of-charge toall birthing hospitals to support their parent education efforts.

Neb. Rev. Stat. §71-4740 also requires that if a newborn is not born in a birthing facility, theDepartment of Health and Human Services must educate the parent(s) about receiving a hearingscreening and necessary follow-up, as well as information to assist the parent(s) in having thetest performed within three months after the birth. Birth information is received from theNebraska Newborn Screening Program or the Electronic Birth Certificate Registry afterinformation is submitted to file for the birth certificate on infants not born in a birthing facility. The NNHSP sends a letter to the parent(s) along with educational brochures and a listing of thehospitals and audiologists that can provide hearing screening. The letter includes a form for thehearing screening test provider to complete and return to NNHSP with the screening results. In2002, 14% of the 80 out-of-hospital births completed the hearing screening, and in 2003, 15% ofthe 68 out-of-hospital births completed the screening.

Hospitals are surveyed as part of the annual report to determine the training needs of the hearingscreening staff. This information is used to determine the content of newsletter articles andtraining to be provided during site visits. The training areas identified by more than 20% of thehospitals in 2003 are:

• Equipment use and how to decrease “refer” rates• How to implement an in-hospital quality assurance program for newborn hearing

screening• Educating parents about hearing screening• Communicating results to parents• Educating parents about acquired or late-onset hearing loss• How to get families to return for testing when their newborn “refers” or has an

incomplete screen

Eight audiologists from across the state participated in a three-part workshop “Auditory

Nebraska Newborn Screening Program 2002/2003 ReportEvaluation of Infants Referred from Newborn Hearing Screening.” The National Center forHearing Assessment and Management (NCHAM) at Utah State University sponsored theworkshop that included the following topics: anatomy and physiology of the infant auditorysystem, electrophysiological results in pediatric clients, otoacoustic emissions – pediatric results,ABR – click measures, frequency-specific measures, bone conduction measures, use of sedation,timely appropriate diagnosis, and referral for early intervention. The workshop consisted of sixweekly chatrooms based on required readings, an on-line exam, a two-day on-site workshop, anda practicum experience. Continuing education credits were available for the workshop.

The conference “Baby…Can You Hear Me?” was attended by 141 physicians, hospitalpersonnel, audiologists, early intervention providers, Educational Service Unit personnel, andparents on November 1, 2002 in Kearney. The keynote speakers were Karl White, Ph.D. fromNCHAM and Mary Pat Moeller, Ph.D. from the Boys Town National Research Hospital. Trainers for the eight workshop sessions included a geneticist, a pediatrician, an otologist, fouraudiologists, two early interventionists, and a registered nurse. The conference was fundedthrough federal MCHB funds at minimal cost to the participants. Continuing education creditswere available for nurses and audiologists. Conference evaluations were very positive andindicated that the conference should be offered annually.

Parent Survey

Semi-annually, a cross-section of 10% of the parents of newborns who “referred” or dischargedwithout a hearing screening are surveyed to evaluate the effectiveness of the newborn hearingscreening system in Nebraska. Highlights from the most recent survey in 2003 indicate that:

• Written educational materials are very understandable, attractive, provided at the righttime, and contain the right amount of information.

• On a 1-to-5 scale (1=strongly disagree, 5=strongly agree), the average ratings of therespond ts about their experience in obtaining follow-up hearing screening testing were:I receive help to know exactly what to do and where to go 4.4 (strongly agree)My doctoThe testsPaying foI was treThe expeI needed

• For the their qu

Newborn H

The DepartmenAdvisory Commhas been compo

representatives,

end

59

r was helpful 3.6 (agree) were easy to get 4.1 (agree)r the tests was difficult 1.9 (disagree)

ated kindly and respectfully 4.0 (agree)rience was scary and confusing 1.5 (strongly disagree) help, but didn’t know where to get it 1.4 (strongly disagree)parents of newborns who “referred,” 89% knew what they needed to do next, hadestions answered, and had their newborn’s hearing re-screened.

earing Screening Advisory Committee

t of Health and Human Services has appointed a multi-disciplinary NNHSPittee to advise on the implementation of the Infant Hearing Act. The Committeesed of physicians, nurses, hospitals, audiologists, Educational Service Units

Early Intervention representatives, and parents of children with hearing loss.


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State staff advisors have represented the Department of Education, Early Intervention Service Coordination, Medically Handicapped Children’s Program and Office of Family Health. Thescope of responsibility for the Advisory Committee has been to:

• Make recommendations for the most appropriate electronic tracking system and theinterim manual tracking system. Neb. Rev. Stat. §71-4737 mandates that the Department of Health and Human Servicesdetermine and implement the most appropriate system that is available to tracknewborns/infants with hearing loss or at risk for hearing loss. With the guidance of theNNHSP Advisory Committee, an interim manual tracking system was developed andprovided to hospitals with instructions necessary for its completion. The EvaluationCommittee participated in the review of the RFPs for the electronic tracking system andvendor demonstrations. The Evaluation Committee and the Advisory Committeerecommended not to purchase an existing system due to the cost of the systems.

• Make recommendations regarding newborn hearing screening methods and protocolsthat should be utilized. The Advisory Committee worked closely with the NNHSP staff to develop protocols fornewborn hearing screening, referral, audiological diagnostic evaluation, andamplification assessment (protocol highlights on pages 50 - 54). These protocols havenot been modified since they were originally developed.

• Participate with staff in developing consensus on the best practices to promote newbornhearing screening in Nebraska. The primary activity of the Advisory Committee in this area in 2002 and 2003 was inevaluating the applications for the Nebraska Health Care Cash Fund sub-grants topurchase hearing screening equipment and to develop their programs. Thirty-eighthospitals with less than 500 births annually received $2000 sub-grants (see listing onpage 56).

Some babies are born listeners . . .

Others need your help!


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Part III

NEWBORN HEARING SCREENING DATA FOR 2002 and 2003

Birthing Facilities Data for 2002 and 2003

Hospital Screening Programs

The number of hospitals conducting newborn hearing screening has increased rapidly since 2000when only 11 hospitals were conducting either targeted or universal newborn hearing screening. By the end of 2003, 100% of the birthing facilities in Nebraska were conducting hearingscreenings, consistent with Neb. Rev. Stat. §71-4742 requirement that a hearing screening test beincluded as part of the standard of care for newborns. Sixty five of the birthing hospitals wereconducting the hearing screening during the birth admission and two were conducting thescreening on an outpatient basis following discharge. Sub-grants of $2000 each were providedthrough the Nebraska Health Care Cash Fund to 38 hospitals with less than 500 births annuallyto purchase hearing screening equipment. In 2002, 24 hospitals received grants and anadditional 14 hospitals were funded in 2003.

Hospitals Conducting Newborn Hearing Screenings (2000-2003)

Year Number of BirthingHospitals in

Nebraska

Number ofHospitals

ConductingNewborn Hearing

Screening

Percentage ofHospitals

ConductingNewborn Hearing

Screening2000 69 11 16%2001 69 24 35%2002 69 57 83%2003 67 67 100%

Table 1

As discussed previously in this report, there are two measurement techniques used to conductnewborn hearing screening: Otoacoustic Emissions (OAE) and Auditory Brainstem Response(ABR). Half of the birthing hospitals in Nebraska are using OAE-only, almost one third areusing ABR-only, and the remaining birthing hospitals are using a 2-step method (OAE, followedby ABR if the initial screening is a “refer”). As can be seen in Table 2, the “refer” rates differfor the three approaches, with the OAE-only having the highest refer rate. The combined referrate for all of the hospitals is 3.6%.


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Refer Rates for Hearing Screening Techniques (2003)

OAE-only ABR-only2-Step (OAE,followed by

ABR, ifneeded)

Number of Hospitals 34 22 11Number of Newborns Screened 3,584 6,508 15,183Number of Newborns “Referred” 386 193 330Refer Rate 10.7% 3.0% 2.2%

Table 2

Newborn Hearing Screening Annual Hospital Reports

Birthing facilities are required to annually report specific information about their newbornhearing screening programs to the Department of Health and Human Services (Neb. Rev. Stat.§71-4739). Reports were received from all birthing facilities for 2002 and 2003.

Hospital Reports of Required Data

2002 2003Number of newborns born 25,104 26,023Number of newborns and infants recommended for ahearing screening test

23,767 25,219

Number of newborns who received a hearing screening testduring birth admission

22,615 25,275

Number of newborns who passed a hearing screening testduring birth admission, if administered

21,211 24,430

Number of newborns who did not pass a hearing screeningtest during birth admission, if administered

836 909

Number of newborns recommended for monitoring,intervention, and followup care

709 676

Table 3

The data in Table 3 are based on annual aggregate data reported by the birthing hospitals. Screening results and demographic data are not reported for all births. The NNHSP only receivesspecific information about newborns that “refer” on the initial hearing screening and about thosethat were discharged without receiving a hearing screening during the birth admission. A marginof error exists in comparing the aggregate numbers with other existing data such as actual recordcounts. Examples of the extent of the reporting errors in 2003 include:


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• Number of newborns born: 26,023 reported by hospitals to NNHSP compared with 26,011 births according to vital records (excluding 68 home births) – an over-reporting toNNHSP of 12 births.

• The annual aggregate reports from the hospitals to NNHSP indicated 25,275 newbornswere screened. The same reports indicated 24,430 passed and 909 “refers” for a total of25,339 screenings. This is a difference of 64 screenings.

• Number of newborns who did not pass a hearing screening: 909 reported by the hospitalsto NNHSP compared with a record count (spreadsheet entries, hard copy files) of 842 - adifference of 66 “refers.”

The opportunity for error exists within the current manual tracking system due to reportingerrors, recording errors, duplicated entries because of newborn name changes, transfers frombirth hospitals to NICUs, and whether newborns who expire are included in the weekly and/orannual reports. Without a system to accurately determine the status of each newborn’s hearingscreening results, errors will be present in spite of the best efforts of everyone involved toprovide accurate information.

Parent Education

Recommending a hearing screening test has been operationally defined as educating parentsabout newborn hearing screening, as required by Neb. Rev. Stat. §71-4740. The NNHSPprovides patient education materials free of charge to hospitals to help fulfill this requirement. During 2001 and 2002, the birthing hospitals reported that 92% of parents were educated abouthearing screening. In 2003, as the number of hospitals offering hearing screening increased to100%, the number of hearing screenings recommended through parent education increased to96.7%.

Newborns Receiving a Hearing Screening

The Infant Hearing Act requires that rules and regulations be adopted and promulgated if at least95% of the newborns in Nebraska do not have a hearing screening by December 1, 2003, or atany time thereafter. The annual aggregate reports submitted by the hospitals in 2003 show that96.92% of the 26,079 resident births in the state were screened during birth admission. Theincrease in numbers of newborns screened during birth admission has increased dramaticallysince reporting began in 2000, when only slightly more than one third of newborns received ahearing screening during birth admission (see Chart 1 and Table 4). This increase in thenumbers of newborns receiving a hearing screening corresponds to the increase in the number ofhospitals adopting newborn hearing screening as the standard of care for newborns and thesupport of sub-grants through the Nebraska Health Care Cash Fund to purchase screeningequipment for smaller hospitals.

Number and Percentages of Newborns Receiving Hearing Screening

2000 2001 2002 20038,978 15,272 22,615 25,27536% 61% 89% 97%

Table 4

020406080

100

Percent

2000 2001 2002 2003

Year

Percentage of Newborns Receiving Hearing Screening


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Newborns Discharged Without a Hearing Screening

During 2003, the annual aggregate hospital reports to NNHSP indicated that there were 804newborns who did not receive a hearing screening. Included in this group are newborns whoexpired prior to screening (55), newborns born at hospitals before hearing screening wasimplemented at the birthing hospital, and some newborns that were transferred to anotherhospital’s NICU. There were 84 newborns reported via weekly reports as discharged prior toreceiving a hearing screening test for the following reasons: invalid results (technical/equipment

problems), could not test (baby too active/restless), discharged before screened, newbornadopted, and parent refusal. Slightly less than half (45%) of those newborns discharged withouta hearing screening received one on an outpatient basis within an average of 23 days after birth. Twenty did not receive a hearing screening as an outpatient. An additional 20 were eitheradopted prior to the hearing screening or the parent(s) refused the screening.

Out-of-Hospital Births

Neb. Rev. Stat. §71-4740 requires the Department of Health and Human Services to educateparents of newborns who are not born in a birthing facility about the importance of newbornhearing screening and to provide information to assist them in having the screening performedwithin three months after the child’s birth. Although parent education was provided to theparents of all reported out-of-hospital births during 2002 and 2003, less than 15% of the out-of-hospital births were screened (see Table 5).

Out-of-Hospital BirthsTable 5

2001 2002 2003Out-of-hospital births 93 80 68Number screened 5 11 10Percentage screened 5.4% 13.8% 14.7%

Chart 1


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Birth Admission Refer Rates

Of the newborns with hearing screenings conducted during the birth admission, the refer ratewas 3.7% during 2002 and 3.6% during 2003. These overall refer rates compare favorably withnational statistics that indicate an average refer rate of 3.4% for the 36 states with refer rates ofless than 5% during the latter half of 2003 (NCHAM 2004 State EHDI Survey).

Monitoring, Intervention, and Follow-up

The final data reported by the birthing hospitals is the number of newborns recommended formonitoring, intervention, and follow-up care: 709 (85% of refers) in 2002 and 676 (74% ofrefers) in 2003. The reporting of the data for this item seems to be inconsistent withapproximately 75% of the hospitals recommending that newborns with a “refer” status on theinitial hearing screening need additional monitoring, intervention, and follow-up. The remaininghospitals report very few recommendations for monitoring, intervention, and follow-up care. Beyond the lack of a clear operational definition for this item, the reasons for fewerrecommendations than “refers” is unknown.

Newborns Not Screened

Neb. Rev. Stat. §71-4742 states: “…it is the goal of this state to achieve a 100-percent screeningrate.” While Nebraska has made great strides in developing a comprehensive newborn hearingscreening system, there are also infants for whom the status of their hearing at birth has not beenverified. In 2003, there were 804 newborns for whom an initial screening cannot be verified. Ofthose that did not receive an initial screening during birth admission, 151 expired, 58 were out-of-hospital births with no hearing screening completed, 17 refused, and at least 20 weredischarged without a screening and no follow-up occurred. Another 153 that “referred” on thehearing screening during birth admission and/or initial outpatient screening with no furtherfollow-up evaluation verified.

Audiological/Confirmatory Test Provider Data for 2002 and2003

Neb. Rev. Stat. §71-4739 requires confirmatory testing facilities to report the followinginformation:

• Number of newborns and infants who return for a followup hearing test• Number of newborns and infants who do not have a hearing loss based upon the

followup hearing test• Newborns and infants who are shown to have a hearing loss based upon the follow-up

hearing test

The Advisory Committee for the NNHSP, consistent with recommendations of the American Academy of Pediatrics and the National Center for Hearing Assessment and Management


66

(Guidelines for Pediatric Medical Home Providers, AAP), identified the initial level of the follow-up hearing test as an outpatient re-screening of the newborn’s hearing. For thosenewborns and infants who pass this initial level of the follow-up hearing test, no furtheraudiological evaluation would be needed, unless there are risk factors present that would warrantperiodic evaluation. The Advisory Committee recommends that the re-screening occur withinthe first six weeks to minimize the need to sedate the infant to obtain reliable results and so thatintervention can begin early if a hearing loss is identified.

Since the majority of newborns will pass this second screening, considerable cost savings canresult by using either the OAE and/or ABR screening technique rather than proceeding directlyto a complete diagnostic audiological evaluation. The Advisory Committee’s AudiologicalDiagnostic Protocol recommends that the referral center should be prepared to providecomprehensive audiological diagnostic procedures if the outpatient re-screening results indicatea “refer” status. However, some communities that do not have audiology services readilyavailable have opted to have the initial re-screening occur at the birthing hospital on anoutpatient basis.

Newborn Hearing Screening Annual Confirmatory Testing Facility Reports

Each year data regarding the follow-up hearing tests at confirmatory testing facilities have beengathered by surveying the audiologists in Nebraska. The results of those surveys for 2002 to2003 are included in Table 6 below.

Required Follow-up Hearing Test Data Reported by Audiologists

2002 2003Number of audiologists responding 65 65Number of newborns/infants receiving a follow-up hearing test 601* 360

747**Number of newborns/infants without a hearing loss 404* 317

671**Number of newborns/infants with a hearing loss 58 66

*Data from 2002 legislative report that probably includes numbers from birthing Table 6hospital re-screens.**Follow-up hearing tests, including initial outpatient re-screening by audiologists and birthing hospitals, based on actual file count

Rate of Follow-up Re-screening/Testing

As an increasing number of birthing hospitals in areas of the state without audiology servicesnearby are conducting the initial outpatient re-screenings, those numbers have been included topresent a more comprehensive view of the follow-up services being provided in Nebraska. In2001, 420 (63%) of the 671 newborns who did not pass a hearing screening during birth

Nebraska Newborn Screening Program 2002/2003 Reportadmission received a follow-up outpatient re-screening or a more comprehensive audiological evaluation. In 2002, the follow-up rate increased to 601 (72%) of the 836 newborns needingadditional re-screening.

In 2003, the follow-up rate further increased to 747 (82%) of the 909 newborns needingadditional follow-up, based on an actual file count of individual follow-up reports received. Afurther analysis of the 747 individual newborn files with follow-up outpatient re-screeningand/or a comprehensive evaluation results indicate that 671 of them did not have a hearing lossbased on the follow-up activity. Of this group, 633 had “referred” during birth admission and38 had been discharged prior to receiving a hearing screening. An additional 20 newborns“referred” on the outpatient re-screening but no additional reports were received so it isunknown if a subsequent evaluation was completed.

Completed Initial Outpatient Hearing Screenings, 2003*

esults of Outpatient Hearing Screening Number of Infants

“o“oDc

*

R

67

Refer” on screening during birth admission, pass on initialutpatient screening

633

Refer” on screening during birth admission, “refer” on initialutpatient screening, additional diagnostic evaluation not completed

20

ischarged prior to birth admission screening, outpatient screeningompleted

38

Total 691Table 7

Infants diagnosed with hearing loss not included in this category (see Table 11).


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Timeliness of Follow-up Re-screening/Testing

The NNHSP Advisory Committee has established that six weeks of age is the targeted deadlinefor completion of hearing screening process for those newborns who have “referred” on theinitial hearing screening during the birth admission or who were discharged prior to beingscreened. In 2003, the 691 completed outpatient hearing screenings were analyzed to determinethe extent to which the six-week goal was achieved (see Chart 2). The average number of daysafter birth that the hearing screening was completed for these 691 infants was 23.8 days. AsChart 2 displays, there are many outpatient re-screenings that occur at about 7 days of age and atbetween 14 to 19 days of age. In total, 604 (87.4%) of the outpatient hearing screeningsoccurred prior to six weeks of age.

Chart 2

Number of Days to Outpatient Hearing Screening 2003

0

5

10

15

20

25

30

35

1 7 13 19 25 31 37 43 49 55 61 67 73 79 85 91 97 103

109

115

121

127

133

139

145

151

157

163

169

175

181

187

193

199

Days from Birth to Outpatient Screening

Num

ber o

f Inf

ants


Diagnosis of Hearing Loss

The number of infants diagnosed with a hearing loss in Nebraska is reported in two ways: 1)aggregate reports submitted by audiologists of the number of infants shown to have a hearingloss based on follow-up tests (required by Neb. Rev. Stat. §71-4739) and 2) the individualdiagnostic reports submitted to NNHSP by audiologists or primary care physicians. Statuatoryauthority to require audiologists to report on all newborns and infants that receive audiologicalevaluations does not exist, so a one-to-one correspondence between the individual resultsreported to NNHSP and the required annual aggregate reporting does not exist. In 2002,audiologists reported identifying 58 infants born in 2002 with hearing loss and the NNHSPreceived individual reports on 44 of those infants. In 2003, 66 infants born in 2003 werereported as having been diagnosed with a hearing loss, 56 of which the NNHSP receivedindividual reports. Voluntary reporting of individual newborns and infants diagnosed withhearing loss has consistently increased from 39% in 2001 to 85% in 2002 (see Table 8).

Comparison of A

Reported number of infahearing loss (annual aggrconfirmatory testing faciReported number of infahearing loss (individual rNNHSP)Percent of infants with hthat has individually beeNNHSP

The targeted hearing loss runilateral, sensory or cond cyregion important for speecestimates of frequency of snationally. Based on the bestimated 26 to 78 newbo tsreceived by NNHSP indic ts inNebraska was 2.3 per thou orms.

ggregate and Individual Reporting of Hearing Loss

2001 2002 2003nts withegatelity reports)

67 58 66

nts witheports sent to 26 44 56

earing lossn reported to 39% 76% 85%

Table 8

for newborn hearing screening programs is “permanent bilateral ouctive hearing loss, averaging 30 to 40 dB or more in the frequenh recognition” (Joint Commission on Infant Hearing, 2000). Thehearing loss in newborns range between 1 to 3 per thousand birthirth rate in Nebraska during 2002 (25,509) and 2003 (26,079), an

rns would have some degree of hearing loss. The aggregate reporates that the rate of identified hearing loss in newborns and infansand in 2002 and 2.5 per thousand in 2003, within the national n

69


70

Type and Degree of Hearing Loss

Tables 10 and 11 display the number of newborns identified with a hearing loss by the type ofhearing loss (sensorineural, conductive, or undetermined), the degree of hearing loss (rangingfrom mild to profound), and whether the loss was bilateral or unilateral. Tables 10 and 11 do notcompletely represent the number of infants identified with permanent hearing loss because thefigures:• Are based on the individual reports that have been submitted to the NNHSP and, therefore, only

represent from 76% (2002) to 85% (2003) of the infants identified with a hearing loss • Do not indicate if the hearing loss is permanent or temporary, as is often the case with a conductive

hearing loss that results from middle ear dysfunction that is resolved through medical management• Do not include those who were born in the last several months of the year and were not identified

early enough to be included in the statistics for that year. In 2003 the average age at diagnosis ofhearing loss was 80.6 days. While over two thirds were identified at less than 3 months of age,slightly less than one third were identified beyond the targeted 3 months of age.

Degree of Hearing Loss, 2002 (n=44) Table 10

Unilateral Mild Moderate Severe Profound UnspecifiedSensorineural 3 1 0 1 0Conductive 10 2 - - 0Unspecified 0 1 0 0 0

Bilateral Mild Moderate Severe Profound UnspecifiedSensorineural 2 3 5 10 0Conductive 2 1 - - 0Unspecified 0 2 1 0 0

Degree of Hearing Loss, 2003 (n=56) Table 11

Unilateral Mild Moderate Severe Profound UnspecifiedSensorineural 1 1 3 2 0Conductive 11 3 - - 2

Undetermined 5 2 0 0 2Bilateral Mild Moderate Severe Profound Unspecified

Sensorineural 4 0 1 5 0Conductive 8 2 - - 0

Undetermined 2 2 0 0 0


71

Summary

• All the current birthing hospitals in Nebraska were conducting newborn hearingscreening by the end of 2003. All but two were conducting the hearing screeningsduring the birth admission.

• The benchmark of 95% of newborns having a hearing screening during birthadmission by December 1, 2003 established by Neb. Rev. Stat. §71-4742 has beenmet. In 2003, birthing hospitals reported screening the hearing of 96.92% ofnewborns.

• The overall refer rate of 3.7% for initial hearing screening during birth admissionwas within national norms during 2003.

• The rate of reported follow-up re-screening and/or diagnostic evaluation hascontinued to improve, increasing from 63% in 2001 to 82% in 2003.

• In 2003, follow-up re-screening occurred within six weeks of birth for 87.4% ofthose newborns in which follow-up activities were initiated. The average age atthe time of the re-screening was 23.8 days.

• The percentage of individual diagnostic evaluation reports submitted to NNHSPcontinued to increase from 39% in 2001 to 85% in 2003.

• The average age at diagnosis of hearing loss was 80.6 days for those reported toNNHSP in 2003 and over two-thirds of evaluations occurred within 3 months ofbirth.

• The incidence of hearing loss identified (2.5 per thousand in 2003) and reported toNNHSP appears to be within the anticipated range of 1 to 3 per thousand. However, more accurate information about the degree and permanence of thehearing loss is needed for increased confidence with this data.

• The current system of manually reporting and tracking only those newborns who“referred” on the initial hearing screening or were discharged without a hearingscreening does contribute to errors within the program.


72

Part IVPLANS AND ACTIVITIES FOR 2004 -2005

Electronic Data System

A commitment has been made to purchase the optional Newborn Hearing Screening Modulefrom QS Technologies for integration with the new HHS Electronic Vital Record System. Theintegrated system will eliminate the need to manually record, transmit, and track demographicinformation on each newborn who “refers” or is discharged without a hearing screening andincrease the accuracy, consistency, and timeliness of newborn hearing screening informationprovided to the NNHSP by birthing hospitals. It is anticipated that the integrated electronicsystem will be ready for use early in 2005.

Early Head Start ECHO Project

Nebraska has been selected by the National Center for Hearing Assessment and Management toparticipate in the Head Start Hearing Project in 2004-2005. An Early Childhood HearingOutreach (ECHO) team composed of professionals in the hearing health field in Nebraska willtrain Early Head Start staff to screen the hearing of infants and toddlers using otoacousticemissions (OAE) screening techniques. Three Early Head Start programs will participatebeginning in the fall of 2004 with an additional two to three programs joining during the summerof 2005. This project will expand the early hearing detection and intervention activities of theNNHSP.

Revision of Current Systems

As the electronic data system is developed, the NNHSP tracking and surveillance processes willbe modified to accommodate the new system. Communication, reporting, and evaluationprocesses will be revised and enhanced. As part of the revision of reporting processes, particularattention will be paid to clarify the legislative language regarding reporting requirements toincrease the accuracy and usefulness of the data.

Advisory Committee

The Advisory Committee will take on a renewed involvement in program development andenhancement as the electronic tracking and surveillance system is developed to replace themanual tracking system that was created when the NNHSP was first established. The AdvisoryCommittee will also have an increased role with the program as a result of the Early Head StartECHO project expands the scope of follow-up activities of NNHSP. The screening anddiagnostic evaluation protocols established four years ago will be reviewed to incorporateadvances in knowledge, practice, and technology.


73

Glossary

Biotinidase Deficiency: A metabolicdisease that results in an inability to recycleand conserve the B vitamin biotin which, ifleft untreated, may lead to mentalretardation, seizures, hearing loss, blindness,and dermatitis.

Confirmatory test: A test or a panel oftests performed following a presumptivepositive screening test which providesadditional, more specific diagnosticinformation concerning the existence ornon-existence of diseases screened for.

Congenital Primary Hypothyroidism: Ametabolic disease characterized by acongenital deficiency or absence of thyroidhormone (thyroxine) which, if left untreated,may lead to mental and growth retardation.

Cutoff Value: A value on a screening testfor a specific metabolic disease which givesa high degree of probability that allnewborns with a greater or lower value,depending on the test method, will not havethe metabolic disease.

Department: Department of Health andHuman Services of the State of Nebraska.

Early Discharge: Infants discharged fromthe hospital prior to 24 hours of age.

Filter paper: Medical device used for thecollection of the dried blood spots specimenused for newborn screening. In Nebraskathis form is connected to the demographicdata collection form and is referred to as theCollection and Reporting Form (Care form).Galactosemia: A disease of galactosemetabolism which, if left untreated, may

lead to failure to thrive, vomiting, liverdisease, cataracts, and mental retardation.

Guidelines for Pediatric Medical HomeProviders, AAP: Universal NewbornHearing Screening, Diagnosis, andIntervention Guidelines for PediatricMedical Home Providers, AmericanAcademy of Pediatrics and National Centerfor Hearing Assessment and Management,2003.

Northern, J.L. and Downs, M.P., Hearingin Children: 4th Edition. Baltimore:Williams and Wilkins, 1991.

Hemoglobinopathies: A group of geneticdisorders characterized by production ofabnormal hemoglobin that may causeclinical disease including anemia or oxygencarrying difficulties.

Home Birth: An out-of-hospital birth.

Joint Commission on Infant Hearing,2000: Year 2000 Position Statement:Principles and Guidelines for Early HearingDetection and Intervention Programs.

MCAD: Medium Chain Acyl Co-ADehydrogenase Deficiency. A disease offatty acid metabolism which, if leftuntreated, may lead to metabolic crises,seizures, coma or death.

MCHB: Federal Maternal and Child HealthBureau. This Bureau is within the HealthResources and Services Agency of the

Federal Department of Health and Human


74

Services.

MS/MS: Tandem Mass Spectrometry MS/MS represents two mass spectrometersjoined by a fragmentation chamber. Thisanalytical technique is capable of measuringmany analytes with rapid throughput persample.

NBSGAC: (Nebraska’s) NewbornScreening and Genetics (planning) AdvisoryCommittee. (Two-year committee fundedunder genetics planning grant).

NBSTAC: (Nebraska’s) NewbornScreening Technical Advisory Committee.

NCHAM 2004 State EHDI Survey:Survey of the Early Hearing Detection andIntervention programs in all statesconducted by National Center for HearingAssessment and Management.

Newborn: An infant who is 28 days old orless.

Newborn Screening: Population screeningof all newborns with laboratory test(s)applied to search for newborns with certainmetabolic, endocrine and hematologicdiseases. Screening will detect a highproportion of newborns with the disease(true positive). Some newborns who do nothave disease will be identified by the screening as possibly affected (false positive).

NNHSP: Nebraska Newborn HearingScreening Program.

Newborn Screening System: The system inplace to ensure newborns are screened formetabolic diseases which includes:education, specimen collection, laboratorytesting, follow-up, tracking and monitoring,as well as clinical follow-up and treatment.

NNSP: The Nebraska Newborn ScreeningProgram.

Phenylketonuria, or PKU: A metabolicdisease characterized by a congenitaldeficiency of phenylalanine hydroxylase,which, if left untreated may lead to mentalretardation.

Presumptive Positive: A screening testresult that is above or below the cutoffvalue, depending on the test method.

Submitter: The person who sends theCollection and Reporting (CARE) Form tothe testing laboratory for initial, repeat, orconfirmatory screening tests, including, butnot limited to, the hospital, the laboratory, orthe physician.

Test Method: A laboratory examinationwhich measures blood constituentsassociated with metabolic diseases.


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APPENDIX

2002 Survey of new parents on new “Parent’s Guide to Your Baby’s Newborn Screening” on theblood-spot screening.

Patient evaluation of newbrochure

Booklet was easy to understand?

05

101520253035404550

Stro

ngly

agre

e

Agr

ee

Neu

tral

Disa

gree

Stro

ngly

Disa

gree

Percent

Understands some diseases required,and some are optional?

0102030405060708090

100

True False NotSure

Percent

Understands if leaving hospital prior to 24hours, will need to bring baby back to bescreened?

0102030405060708090

100

True False Not sure

Percent

Understand they need to consent if theywant their baby tested for thesupplemental panel of diseases?

0102030405060708090

100

True False Not sure

Percent

Know they can refer to booklet forwhom to contact if they have morequestions.

0102030405060708090

100

True False Not Sure

Percent


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HOSPITAL CONSENT/DISSENT SURVEY 2003

Sent to all 69 birthing hospitals and Children’s in Omaha. Sought input on reasonsfamilies dissent from the supplemental newborn screening.

Received responses from 43 hospitals. Most were from rural communities, but fourmetro and three large community hospitals were also represented in responses.

Responses indicated parents don’t always understand that the supplemental screendoes NOT require another heel stick, and does not cost more than the mandated screenalone.

Most Frequently Asked Questions: Hospitals’ staff involved with newborn screeningspecimen collection/patient education/obtaining the consent, were asked to rate itemsstarting with # 1 as the most frequently asked question:

Issue Rating Rated in top 3by X #hospitals

Cost? Rated # 1 by 19, #2 by 1, #3 by 2, #4 by1, # 5 by 1, and “x’d” by 3

22

Concern about heelstick? Rated # 1 by 1, #2 by 6, #3 by 4, #4 by1, #5 by 1, # 9 by 1, and “x’d” by 2

11

Concern about having thetesting altogether?

Rated # 1 by 3, #2 by 7, #4 by 1, #5 by2, #6 by 1, #7 by 1 and “x’d” by 1

10

Need for more blood? Rated #1 by 2, #2 by 5, #3 by 2, # 4 by2, # 6 by 1, and “x’d” by 2

9

Concern about child’sinsurability if found to havea disorder?

Rated #2 by 3, #3 by 2, and #4 by 2 5

Concern about theavailability of treatment iftheir child had a disorder?

Rated #1 by 1, #2 by 2, #6 by 1, and #9by 1.

3

Concern about their abilityto care for a child with ametabolic disorder?

Rated #2 by 2, and #8 by 2 2

Concern about ability topay for tx?

Rated #2 by 1, #4 by 1 and #7 by 1 1

Opposition to screeningbased on religiousconvictions?

Rated #2 by 1, #10 by 1 and #11 by 1 1

Concern about revealing Rated #2 by 1, #6 by 1 and #7 by 1. 1


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parentage?Concern about the socialstigma associated withhaving an inheriteddisorder?

Rated #2 by 1, #10 by 1 and # 11 by 1 1

Other: #5 Patient doesn’t understand what isscreened for#6 Patients overwhelmed withinformation to make decisionX – Concern about insurance paying forthe testing

Reasons for dissenting stated by parents who dissent:Don’t think it is necessary (x6)No family history/baby’s sibs o.k. (x5)Didn’t want/need to know (x4)Didn’t want to pay/cost (x4)Diseases too rare, won’t affect their children (x3)Older siblings of baby o.k. so see no need (x1)Pain to baby (x 2)If no treatment available, see no need (x2)Don’t want more blood taken (x2)Wanted to discuss more with physician (x1)Baby looks healthy, no need (x 1)Don’t value the testing (x1)Concern about tx. options (x1)If not mandated don’t want it (x1)Cost concerns about insurance paying (x1)Insurance Issue (pre-existing condition) (x1)Another heel stick (x2)Don’t want the extra test (x1)If no treatment available, see no need (x1)Extra cost of testing (x1)


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The staff of the Nebraska Newborn Screening Program are available to help with yourquestions at the numbers listed below:

Julie Miller, Newborn Screening/Genetics Program Manager (402) 471-6733Krystal Baumert, Follow-up Coordinator (402) 471-0374Jeanne Garvin, MD, Medical Advisor (402) 471-9283Mike Rooney, Administrative Assistant (402) 471-9731

Nebraska Newborn Screening ProgramDepartment of Health and Human ServicesP.O. Box 95044Lincoln, NE 68509-5044

The staff of the Nebraska Newborn Hearing Screening Program are available to help withyour questions at these numbers listed below:

Jeffrey Hoffman, CCC-A, Newborn Hearing Screening Program Manager (402) 471-6770Julie Miller, Newborn Screening/Genetics Program Manager (402) 471-6773Mike Rooney, Administrative Assistant (402) 471-9731(See address above)

The Nebraska Health and Human Services System is committed to affirmative action/equalemployment opportunity and does not discriminate in delivering benefits or services.

This report was prepared and published by the Nebraska Health and Human Services Agency,Nebraska Newborn Screening Program, P.O. Box 95044, Lincoln, NE 68509-5044. Funding forthis report was made possible through the Maternal and Child Health, Title V Block Grant.

Section II Photos courtesy of Natus Medical, SonaMed Corp, National Center for Hearing Assessment and Management

Any reference to specific commercial product in Section II does not constitute or imply an endorsement, recommendation or favoring by the Nebraska Newborn Hearing Screening Program


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Documents

The Nebraska NEWBORN SCREENING PROGRAMgovdocs.nebraska.gov/epubs/H8200/A001-200203.pdf · · 2006-02-13Newborn screening is initiated by collecting a blood specimen from a simple