From Collection to Follow-Up

South Dakota Newborn Screening Program

(SDNSP)

South Dakota Codified Law 34-24-17.

Screening of newborn infants for metabolic disease. All infants born in the State of South Dakota shall be screened for metabolic disease. This screening shall be as prescribed by the State Department of Health.

The Advisory Committee on Heritable Disorders in Newborns and Children

The Committee is charged with advising the Secretary of the Department of Health and Human Services in areas relevant to heritable conditions in newborns and children including newborn and child screening, counseling, and health care services for newborns and children having or at risk for heritable disorders. recommended panel is 31 core disorders

and 26 secondary disorders

Current Disorders Screened for in South Dakota

PKU (1973) Congenital Hypothyroidism (1982) Galactosemia (1991) Congenital Adrenal Hyperplasia (June 1, 2005) Biotinidase Deficiency (June 1, 2005) Hemoglobinopathies (June 1, 2005) Cystic Fibrosis

optional June 1, 2005; mandated June 1, 2007 Amino acid, Organic acid, Fatty acid oxidation

disorders (Tandem Mass Spectrometry) mandated June 1, 2005; previously

supplemental

The Next Newborn Screening Test Coming Severe Combined Immunodeficiency (SCID) screening to begin January 1, 2015

usually causes death in the first year of life

if SCID is recognized early and treated by stem cell transplant within the first 3.5 months of life before significant infections, success rates of 95% are reported

reported incidence of SCID from states that have already begun screening is around 1:50,000 infants previous estimate of 1:100,000

SCID Screening and Reporting

Same specimen card already collected Involves counting by-products of T-cell

production known as T-cell Excision Circles (TRECs)

Normal results will appear on the newborn screening reports routinely sent to the submitter

Physicians caring for an infant with abnormal results will be notified and provided further recommendations

SCID Education

Multiple education efforts planned for providers in South Dakota submission to South Dakota Medical

Journal newborn screening brochure revised to

include SCID provided to all birthing hospitals and

clinics in the state at no charge

Working Together for the Health of Infants

State Hygienic Laboratory (SHL)-NewbornScreening Laboratory at University of Iowa

centralized contract laboratory since 2007

University of Iowa Children's Hospital South Dakota Department of Health Hospitals and Clinics Healthcare Providers Parents Newborn Screening Programs in other

states

Why Screen?

Collectively about 1 in 700 infants affected Conditions are not apparent at birth Allows infants to be identified and treated

before they get sick preventing serious health problems or even death

Components of Newborn Screening

Application to the blood spot collection form Techniques for collection Filling out the NBS collection form Transport of specimen Specimen Quality/Acceptability

Specimen Quality

Based on Standards written by the Clinical and Laboratory Standards Institute (formerly NCCLS)

NBS01-A6, Volume 33 No. 9, 2013 Blood Collection on Filter Paper for

Newborn Screening Programs; Approved Standard—Sixth Edition

Available from South Dakota Department of Health

Specimen Quality

Quality specimen for accurate and timely results

Poor Quality (PQ) specimens MUST be recollected as soon as possible TSH result is based upon infants 2 weeks

of age or less

Recollection

Adds trauma to the infant Causes anxiety to parents Burdens the screening laboratory Burdens the collecting facility Delays testing

delayed diagnosis delayed treatment

Blood Collection Techniques

Heel stick preferred for highest quality results

Avoid using capillary tubes increases the risk of a clotted/layered

specimen increases the risk of scratching the filter

paper Avoid venous collections

lack of anticoagulant and time delays with syringe can cause clot formation and separation of the specimen

Umbilical catheter collection can result in contamination from

substances previously infused through the line

Capillary Tubes….If They Must be

Used Avoid anticoagulants

EDTA causes false negatives for TSH & IRT, false positives for 17-OHP

Heparin may interfere with PCR analysis for Cystic Fibrosis testing and TREC analysis for SCID testing

Capillary Tube Collection

Apply the blood to the filter paper from each tube as it is collected

Do not draw or swirl with the capillary tube onto the filter paper

Avoid pressing capillary tube into the paper causes dents or scratches

Unacceptable Collection Sites

Arch of the foot Fingers (except for collection on the

mother) Earlobes Previously punctured or swollen sites Umbilical cord blood

maternal contamination Intravenous lines contaminated with

interfering substances

Heel Stick Method Prep

Check the expiration date on form Fill out the form properly and completely

Precautions Confirm infant’s identity

take extra precaution with twins/multiple births

Wash hands Wear powder free gloves and change

between infants Follow safety precautions when handling and

disposing of sharps

Site Preparation

Warm the infant’s heel Use heel warming device

or Use soft cloth moistened with warm

water (less than 42˚C) for 3-5 minutes

Positioning Foot Infant’s leg should be lower than the heart

increases venous pressure Wipe heel with 70% isopropyl alcohol Air dry

Puncture Site

Puncture WITHIN shaded area

Plantar surface of the heel

Puncture

Use sterile lancet or heel incision device

1.0 mm deep by 2.5 mm long No scalpel blades or needles

Direct Application Wipe away first drop of blood

may be contaminated with tissue fluid and this may interfere with the test

Allow a large drop to form (50-75 µL) Touch paper to blood ONCE and let soak

through

Apply Blood Apply ONE drop on a circle Apply to ONE SIDE only Continue and fill all circles Do not press filter paper against puncture

site

Take Care of Puncture Site

Elevate foot above the body Press sterile gauze or cotton swab

against puncture site until bleeding stops

Do not apply bandages that may damage infant’s delicate skin

Examine Blood Collection

Look at both sides of filter paper making sure blood has soaked through

If blood is not soaking through try again on another circle

Do not re-apply to same circle

Air Drying the Specimens

Do not touch other blood spots Horizontally Elevate off bench No direct sunlight Keep away from direct heat and humidity

false + biotinidase and galactosemia results

Dry at least 3 hours at ambient temperature

Quality Assurance & You

After collection of the specimen take time to look at it determine whether it is acceptable or not if not, recollect it at that time

Too Much Blood

Over-saturated

Insufficient Blood

Applying drops that are too small Removing filter paper before blood has

soaked through to the other side

Uneven Saturation

Insufficient quantity so blood did notsoak through

Spreading the blood drop over the surface of the circle, contributing to uneven absorption

Improperly applying blood to the filterpaper with a device

Layering Multiple drops added to each circle Non-uniform concentrations Analyte concentrations variable by amount

of blood

Contamination or Dilution

Alcohol not dried on infant’s heel other fluid/substances

Substances on bench top Not always this noticeable May affect analysis

Inadequate Drying

Putting in envelope before drying Folding the flap before dry

air dry for at least 3 hrs.

Sending with the courier before dry

Serum Separation

Serum rings squeezing or milking the heel causes

hemolysis - use gentle pressure RBC have settled in capillary tube

Clotting Apply blood from each tube as collected Don’t delay or hold Don’t “draw” blood on circles

Filling out the Collection Form

All requested information must be provided Missing information may prevent or delay test

results

Collection Information Age of baby at time of collection

birth date and time collection date and time

Early collection (<24 hrs. old) affects results false negatives for amino acids are

possible due to insufficient levels of certain analytes

false positives for hypothyroidism and CAH are possible because of the normal hormone surge after birth

Missing Information Early Collection Unknown

date or time is missing no results for CAH, TSH or TMS

Unknown Weight CAH results not reported

Transfusion Status must be marked no not assumed as no if not marked

Transfusion Affects Biotinidase-plasma Cystic Fibrosis-plasma Galactosemia-RBC Hemoglobin Disorders-RBC SCID-can result in false + (abnormally low

TRECs) no change to transfusion protocol

Always collect prior to a transfusion, even if the infant is <24 hours of age results from an early collection can be

combined with results post transfusion

Submitter Information

Submitter receives report hospital clinic

Infant’s physician & telephone number needed for follow-up for abnormal

results if there will be a different physician

following hospital discharge this needs to be included

examples: Howard Hansen/Kyle IHS Joe Johnson/EAFB

Quality Assurance Daily fax sent from SHL to collecting

facility Need secure fax line Need a contact person Fill out info and fax back

Monitoring Newborn Screening Forms

Storage clean dry place in a vertical position

Supply availability of forms and expiration date

Filter Paper on Collection Form Should NEVER come into contact with

anything other than the infant’s blood Never let the filter paper touch the bench top When filling out the form wear gloves and

make sure the flap is closed over the filter paper

Do not crush the form; take care when storing in charts the filter paper may not absorb blood if

crushed

Checking the Form Before

Submitting Is the form? Complete Legible Accurate

Who Conducts Parent Education?

Is newborn screening education startedduring the prenatal period?

Does the nursery or obstetrician provideparents with the NBS pamphlet?

Who Performs Heel Sticks? Are they properly trained in the collection

procedure on filter paper? Are they able to describe a satisfactory

specimen? Are they able to describe a poor quality

specimen? Are poor quality specimens tracked back to

the individual who collected them and retrained as needed?

Are they using correct terminology - “newborn screening test” instead of calling it the “PKU test”?

Who Sends the Specimens? Are specimens checked for suitable quality

prior tosending with the courier?

Are all specimens sent within 24 hours of collectionusing the courier system?

Are steps taken to avoid subjecting the specimens to heat and humidity prior to sending?

Does someone review the demographic information prior to sending to make sure the form is complete and legible?

Does Your Facility have Adequate and Accurate Newborn Screening Documentation?

Is there a log in the nursery or lab documenting each newborn’s date and time of birth and blood collection? SDNSP may need to confirm a specimen

was an early collection and not just an incorrect date or time of collection

Does your facility track the specimens until the results are received?

Is Your Facility Providing Adequate and Accurate Newborn Screening Documentation?

Is there someone at your facility to track poor quality specimens? Is there documentation indicating the

physician or parents were notified of the need to repeat the newborn screen?

Does your facility have a system set up to guarantee that all newborns are screened prior to discharge? Is there a system in place to ensure infants

discharged prior to 24 hours of age have an initial specimen collected?

Reporting Abnormal Results

State Hygienic Laboratory notifies a Case Manager at University of Iowa Children’s Hospital all abnormal results are reported to the

healthcare provider listed on the collection card with recommendations for rescreening and/or confirmatory testing

SDNSP takes over after the initial notification

Medical Consultants review the confirmatory tests

and provide additional recommendations

Ensuring All Infants are Screened

EVRSS (Electronic Vital Records Screening System) statewide electronic birth certificate filing

system used since 2002 that incorporates web technology

each hospital in the state enters birth certificate information directly into this database

Ensuring All Infants are Screened

the collection card has peel-off stickers that are placed on the form that Vital Records uses at the hospital level to file the birth certificate this sticker is the metabolic unique

identifier number to eventually match the birth certificate to the newborn screening results

SHL sends an electronic file with the newborn screening results loaded into the EVRSS system Monday

through Friday

Ensuring All Infants are Screened

A Department of Health staff loads the electronic record received from SHL and performs a match process function with EVRSS match process is designed to match

the initial specimen as well repeats Never Tested Report ensures all babies

are screened picks up home births, refusals, poor

quality, transferred or discharged without a newborn screen, and deceased

Ensuring All Infants are Screened

in South Dakota, birth certificates are filed within 7 days

lab analysis and reporting out of results averages about 5.5 days

can pick up a baby as soon as 7 days of age as a possible Never Tested baby

Unmatched Report for metabolic results but no birth certificate out-of-state births state program to state program

coordination to ensure the follow-up

Reporting Test Results Reporting options

paper reports delivered by USPS web access and paper report web based only – paperless

For Additional Information

Call the South Dakota Department of Health Newborn Screening Program at 1-800-738-2301

Visit the South Dakota Department of Health Newborn Screening Program homepage for links to additional resources:

doh.sd.gov/family/newborn/metabolic/

Video link

http://www.pkulife.tv/

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