NBS Reporting for PMC-Ward a (Gelmark Olivares, RN)

8/12/2019 NBS Reporting for PMC-Ward a (Gelmark Olivares, RN)

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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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Establishment andaccreditation of theNewborn ScreeningCenters (NSC ) Section 12Establishment of theNewborn ScreeningReference Center(NSRC) Section 13


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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.jpg


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SAVING 34 000 BABIES A YEARFROM

MENTAL RETARDATION AND

DEATH.


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Thank youforlistening!

NBS Reporting for PMC-Ward a (Gelmark Olivares, RN)

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