newborn screening- dr. t. ghosh

8/10/2019 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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newborn screening- dr. t. ghosh

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