newborn screening- dr. t. ghosh
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Dr. Tapash GhoshMD(PGI-Chandigarh)
Assistant Professor,Dept. of Paediatrics,
Agartala Govt. Medical College
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Definition
Newborn screening (NBS) is a public healthprogramme designed to screen infants shortly
after birth for a list of conditions that are
treatable but not clinically evident in newbornperiod.
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Wilson and Juegner criteria forscreeningof disease
The condition sought should be an importanthealth problem.
There should be an accepted treatment for
patients with recognized disease.Facilities for diagnosis and treatment should be
available.
There should be a recognizable latent or earlysymptomatic stage.
There should be a suitable test or examination.
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The test should be acceptable to the population.
The natural history of the condition, including
development from latent to declared disease,should be adequately understood.
There should be an agreed policy on whom to
treat as patients.The cost of case-finding (including diagnosis andtreatment of patients diagnosed) should beeconomically balanced in relation to possibleexpenditure on medical care as a whole.
Case-finding should be a continuing process andnot a once and for all project
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1. EducationProfessionals, parents and policy makers
2. Screening
Collection activities, Specimen delivery, Laboratory
testing and Result reporting
3. Early Follow-up
4. Diagnosis
5. Management
Medical mgt, Long term follow-up, Specimen mgt
6. Evaluation
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The priorities vary from country to country
depending on the incidence and various other
factors.
From perspectives of resources available
(manpower, technology, budget), screening can
be considered under two broad panels.
Core Panel
Expanded Panel
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Core Panel
Following diseases could be included in Corepanel :
Congenital Hypothyroidism
CAHG6PD Deficiency
Galactosemia
PhenylketonuriaMSUD
Deafness
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Expanded panel
Disease under expanded NBS are diagnosed either
by MS/MS Tandem mass spectrometry.
Expanded Panel may include :
1. Biotinidase deficiency
2. Sickle cell anemia
3. Hemoglobinopathies
4. Cystic fibrosis5. MCAD
6. Alkaptonuria and 7. IEM- 30-40
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In India . . . .National Neonatology Forumrecommends NBS under 3 groups :
Group A : All newborns
Congenital hypothyroidism, Congenital Adrenal Hyperplasia, G-6 PD
Deficiency disorder
Group B : Screening In the High Risk Population
Phenylketonuria
Homocysteinuria
Alkaptonuria
Galactosemia
Sickle-cell anemia and other Hemoglobinopathies,
Cystic fibrosis*
Biotinidase deficiency Maple syrup urine disease
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCAD)
Tyrosinemia
Fatty Acid Oxidation Defects
Group C: Screening in Resource Rich Settings
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Clinical pointers for suspicion of IEM
Deterioration after a period of apparent normalcy
Parental consanguinity
Family history of neonatal deaths
Rapidly progressive encephalopathy and seizures of unexplained cause
Severe metabolic acidosis
Persistent vomiting
Peculiar odour
Acute fatty liver or HELLP (hemolysis, elevated liver enzymes & lowplatelet counts) during pregnancy: seen in women carrying fetuses with
long-chain-3-hydroxyacyl-coenzyme dehydrogenase deficiency (LCHADD)
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Approach to newborn with suspected
metabolic disorder
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Approach to newborn with persistent
hypoglycemia and suspected IEM
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Congenital hypothyroidism in aninfant 6 mo of age.
The infant ate poorly in the
neonatal period and was
constipated. She had a persistent
nasal discharge and a large tongue;
she was very lethargic and had nosocial smile and no head control.A,
Notice the puffy face, dull
expression, and hirsute forehead.
Tests revealed a negligible uptake of
radioiodine. Osseous development
was that of a newborn.
B, Four months after treatment,
note the decreased puffi ness of the
face, the decreased hirsutism of the
forehead, and the alert appearance.
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Clinical signs such as large
tongue,hypotonia,delayed
milestone,constipation,
dry skin, lid edema,etc.
are late to appear. By the
time they are clinically
apparent it is too late as
brain damage has already
set in. With every weeks
delay in diagnosis 5 to 10points in the IQ are lost.
Source: IAP color Atlas
Untreated con.
Hypothyroidism.
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When to collect blood for NBS?
For NBS blood should be collected beforedischarge Between 72 hours to 7 days, When
baby had at least 6-8 times adequate breast
feeding.
Metabolism of neonate needs 4-5 days for liver
to function independently, to give true picture
of neonatal marker.
For congenital Hypothyroidism Cord blood can
be collected.
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The key factors that are critical for scale up are :
1.Manpower
2. Budget
3. Phasing out of the program4. Logistics
5. Advocacy and consent
One important factor for a NBS programme isthe likely cost of screening versus case-finding.
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Recommendations
Universal newborn screening should be introduced in phases inour country.
Screening should be done after 2 days and before 7 days of age.Infants screened before 24 hours of life should be re-screened by2 weeks of age to detect possible missed cases. Sick andpremature babies should also have metabolic screeningperformed by 7 days of life.
The disorders to be screened our country have been classifiedinto three groups, depending on availability of resources.
A positive screening test should always be followed with parentalcounselling, confirmatory test, genetic counselling and earlydietary or other interventions.
There is a need for comprehensive planning for NBS at state andnational levels .
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