newborn screening - final

7/30/2019 Newborn Screening - Final

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A simple procedure to find

out if a baby has a

congenitalmetabolicdisorder.

Newborn Screening is

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Because most babies with

metabolic disorders look

normal at birth.

Why is it important?

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One may only know it once

signs and symptoms are

already severe andirreversible.


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These disorders may lead to

mentalretardationand

even death, if untreated.


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It is ideally done on the 48th

hour or at least 24 hours

after birth.

When is it done?

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Because some disorders are

not detected if the test is

done earlier than 24 hours.

When is it done?

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And the baby must be

screened again after 2

weeks to obtain moreaccurate results.

When is it done?

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Using the heel prick method, afew drops are taken from the

babys heel and then blottedonto an absorbent filter card.

How is it done?

Heel Prick MethodAbsorbent filter card



The blood is dried for 4

hours and then sent to the

Newborn Screening Lab.

How is it done?


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Physician Nurse

Midwife Medical Technologist

Who will collect the sample?

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All practicing health institutions:

Hospitals

Lying-in Clinics

Health Centers Rural Health Units

Where is it available?

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If babies are delivered athome, they can be brought

to the nearest institutionoffering Newborn Screening.

Where is it available?

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1. CongenitalHypothyroidism

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The lack or absence ofthyroidhormoneswhich is

essential to growth of thebrain and body.

Congenital Hypothyroidism

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If hormone replacement is notinitiated within 4 weeks, this

may result in stunted growthand mental retardation

Congenital Hypothyroidism

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2. Congenital AdrenalHyperplasia

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A disorder that causes severe saltloss, dehydration and abnormally

high levels of male sex hormones

in both males and females.

Congenital AdrenalHyperplasia


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If not treated, the baby maydiewithin 7-14 days.

Congenital AdrenalHyperplasia

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3. Galactosemia

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The body is unable to processgalactoseasugar present in

milk.

Galactosemia

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Excessive galactose builds up inthe body, leading to liver

damage, brain damage andcataracts.

Galactosemia


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4. Phenylketonuria

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The body is unable to use oneof the building blocks of

protein

phenylalanine.

Phenylketonuria (PKU)


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Excessive accumulation ofphenylalanine in the body

causes brain damage.

Phenylketonuria (PKU)


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5. G6PD(Galactose-6-PhosphateDehydrogenaseDeficiency)

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A condition wherein the bodylacks the enzyme G6PD.

G6PD Deficiency

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This may lead to hemolyticanemiacaused by exposure to

certain drugs, foods andchemicals.

G6PD Deficiency


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When are theresults available?

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Within 3 weeks after thelaboratory receives and tests

the samples.

When are the resultsavailable?

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Results are released and sentto the institutions, and sent

to the attending birthattendants or physicians.


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Parents may seek the resultsfrom the institution where

the samples are collected.


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The results are normal andthe baby is not suffering

from any of the disordersbeing screened.

A negative screen means

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The Newborn Screening NurseCoordinatorwill immediately

inform the coordinator of theinstitution.

In case of a positive screen

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Babies with positive results shouldbe referred at once to the nearest

hospital or specialist for

confirmatory testing and further

management


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Should there be no specialist inavailable, the Newborn

Screening secretariat officewillassist its attending physician.


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Disorder Screened Effect Effect


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Disorder Screened Effect

Screened

Effect

Screened

and TreatedCongenital

HypothyroidismSevere

mental

retardation

Normal

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Screened

Effect

Screened

and Treated

Galactosemia Death or

Cataracts

Alive and

Normal

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Screened

Effect

Screened

and Treated

Phenylketonuria

(PKU)Severe

mental

retardation

Normal

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Screened

Effect

Screened

and Treated

G6PD Severe

anemia

and

kernicterus

Normal

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newborn screening - final

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