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NewbornScreening in the
Philippines (NBS)
Gelmark S. Olivares, RNNurse Trainee
Premiere Medical Center
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What is Newborn Screening?
Newborn Screening (NBS) is a simpleprocedure to find out if the babyhas a congenital metabolic disorderthat may lead to mental retardationand even death if left untreated.
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What is Newborn Screening?
In most developed countries: An integral part of routine newborn
careAs routine as Vitamin K injection or CordCare
In the Philippines: It is now recognized as part of thestandard newborn care
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Why is it important to have
Newborn Screening?Most babies with metabolicdisorders look normal at birth. Onewill never know that the baby hasthe disorder until the onset of signsand symptoms and more often illeffects are already irreversible.
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How is Newborn Screening
Performed?
It involves collection of a few drops of
blood by heel prick after the first 48 hoursof life
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How is Newborn Screening
Performed?Blood sample collection(>24 hours of life in term
newborns)
Analysis for the presence ofthe disorders screened (NIH
laboratory)
NegativePositive
Confirmatory Test
Positive
Appropriate treatment and referrals
No further
testing
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Which disorders are screened?
In the Philippines:Congenital Adrenal Hyperplasia (CAH) 21 hydroxylase deficiencyCongenital Hypothyroidism (CH) Primary Congenital HypothyroidismGalactosemiaPhenylketonuria (PKU)Glucose 6-Phosphate Dehydrogenase(G6PD) deficiency
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CLINICAL MANIFESTATIONS AT BIRTHDI SORDER APPEARANCE AT BI RTH
CAH Hyperpigmentation
Ambiguous Genitalia in femaleinfants
CH Normal
GAL Normal
PKU Normal
G6PD Deficiency Normal
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What is CONGENITAL
ADRENALHYPERPLASIA?
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CAH, Salt Losing
Clinical Manifestations Increased pigmentation Ambiguous genitalia in
female infants
Poor suck, weak cry Vomiting, excessive
urination, dehydration Irritability and seizures
Failure to thrive Hypotension, shock Coma
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Congenital Adrenal Hyperplasia
Late Manifestations Precocious puberty Skin Puberty:
pubic hair growth,oily skin, bodyodor"
Dark skin color Short adult stature
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What is CONGENITAL
HYPOTHYROIDISM?
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Congenital Hypothyroidism
Clinical Manifestations Prolonged jaundice Inactive defecation Umbilical Hernia Hypotonia
Skin: rough and dryPallor, coldness,hypothermia, edema
Rough facial features Edema, flat nasal bridge,enlarged tongue
Open fontanelles Delayed overall development
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Congenital Hypothyroidism
Late Manifestations Mental retardation
Growth retardation Delayed skeletal
maturation Delayed dental
development and tootheruption Delayed puberty
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What is GALACTOSEMIA?
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Galactosemia
Galactose Component of dietary sugars
Converted to GLUCOSE for energy storage(glycogen) and energy production
Galactosemia results from a deficiency of Galactose-1- phosphate uridyltransferase (GALT) Enzyme responsible for converting galactose to
glucose
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GalactosemiaClinical Manifestations developa few days to two weeks AFTERINITIATION OF MILKFEEDINGS
Poor suckVomiting, occasionallydiarrheaJaundiceLethargy, weakness, coma
Septicemia (E. coli)
Later: excess galactose depositsin tissues
LiverHepatomegaly
EdemaAscitesCirrhosis of the liver
LensCataracts
BrainMental retardation
KidneyGrowth failure
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Galactosemia(Baby L)
at 4 months at 1 year old
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What is
PHENYLKETONURIA?
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PhenylketonuriaPhenylalanine
Essential amino acid found in most proteindiets
TyrosineProduced from phenylalanineComponent of substances that regulate bodyfunctions (hormones/ pigment)
Inefficient production of tyrosine fromphenylalanine
Complete absence or profound deficiency ofphenylalanine hydroxylase (PAH) enzymeactivity
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Phenylketonuria
Very high elevations of blood Phenylalanine Excessive amounts of waste products of
phenylalanine (phenylketones) in the urineGives the urine a characteristic mousyodor
Low serum levels of tyrosine
Disturbance in hormone and pigment production
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PhenylketonuriaClinical Manifestations Vomiting Hyperactivity
Seizures andhypertonia Musty or mousy urine
odor Light hair and skin
color Seborrheic or
eczematoid rash Mental retardation
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Persistent Benign Hyperphenylalanemia
(Baby MD)
at 5 months at 1 year and 10 mos.
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G6PD Deficiency
Function of G6PD Certain food and drug have oxidant properties
that causes cell damage In the red blood cells (RBC), the only
mechanism to neutralize oxidative substances isthrough the G6PD activity
Without G6PD, RBCs undergoHEMOLYSIS when exposed to oxidativestress!
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OXIDATIVE AGENTS LEADING TO
HEMOLYSIS IN G6PD DeficiencyDrugsChemicals
FoodInfection
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CLINICAL MANIFESTIONS OFG6PD Deficiency
Acute Hemolytic crisisAnemiaDecreased oxygen delivery
Enlarged spleenIncreased bilirubin
Jaundice, tea colored urineAccumulation in tissues
Brain Kernicterus Gall bladder
Gallstones
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Enactment of the
Newborn Screening Act of2004
( April 6, 2004)
Signing of the
Implementing Rules andRegulation of RA 9288
(October 5, 2004)
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Highlights of RA 9288
Institutionalize the National NewbornScreening System Section 2
Ensure that every baby born in thePhilippines is offered the opportunityto undergo NBS
Defining DOH as the lead agency for the
implementation of NBS Section 10
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Highlights of RA 9288
Establishment andaccreditation of theNewborn ScreeningCenters (NSC ) Section 12Establishment of theNewborn ScreeningReference Center(NSRC) Section 13
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Highlights of RA 9288
Obligation to inform Section 5
Who will inform? Any health practitioner who delivers,
or assists in the delivery of a newbornWhat information?
Availability, nature and benefits of NBS
Performance of Newborn Screening Section 6
After 24 hours of life but not later than 3 daysSick neonates in ICU must be tested by the 7 th day oflife
Regardless of weight and age of gestation
Wh t i th t f b
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1 bottle of cokeevery week for1 year
GIVING UP 1.5 sticksevery day for1 year
2 bottlesevery month
for 9 months
2 cell cards in 9months
Missing 55 daysof
daily lotto bet
What is the cost of newbornscreening?
NewbornScreening FeeP600
http://www.tanduay.com/image/premiumrum.jpghttp://www.cdf.org/cdf/atissue/vol2_2/cocacola/cokebottle.jpg8/12/2019 NBS Reporting for PMC-Ward a (Gelmark Olivares, RN)
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SAVING 34 000 BABIES A YEARFROM
MENTAL RETARDATION AND
DEATH.
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Thank youforlistening!