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.
Why is it important?
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These disorders may lead to
mentalretardationand
even death, if untreated.
Why is it important?
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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
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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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Ref. www.doh.gov.ph
Excessive galactose builds up inthe body, leading to liver
damage, brain damage andcataracts.
Galactosemia
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4. Phenylketonuria
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Ref. www.doh.gov.ph
The body is unable to use oneof the building blocks of
protein
phenylalanine.
Phenylketonuria (PKU)
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Ref. www.doh.gov.ph
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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Ref. www.doh.gov.ph
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.
When are the resultsavailable?
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Parents may seek the resultsfrom the institution where
the samples are collected.
When are the resultsavailable?
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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
In case of a positive screen
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Should there be no specialist inavailable, the Newborn
Screening secretariat officewillassist its attending physician.
In case of a positive screen
Ref. www.doh.gov.ph
Disorder Screened Effect Effect
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Disorder Screened Effect
Screened
Effect
Screened
and TreatedCongenital
HypothyroidismSevere
mental
retardation
Normal
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Disorder Screened Effect Effect
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Disorder Screened Effect
Screened
Effect
Screened
and Treated
Galactosemia Death or
Cataracts
Alive and
Normal
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Disorder Screened Effect Effect
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Disorder Screened Effect
Screened
Effect
Screened
and Treated
Phenylketonuria
(PKU)Severe
mental
retardation
Normal
Ref. www.doh.gov.ph
Disorder Screened Effect Effect
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Disorder Screened Effect
Screened
Effect
Screened
and Treated
G6PD Severe
anemia
and
kernicterus
Normal
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