Dr.

Tapash Ghosh
MD(PGI-Chandigarh)
Assistant Professor,
Dept. of Paediatrics,
Agartala Govt. Medical College

Definition
Newborn screening (NBS) is a public health
programme designed to screen infants shortly
after birth for a list of conditions that are
treatable but not clinically evident in newborn
period.

The purpose of NBS

Early detection of children at increased risk for
selected metabolic or genetic diseases so that
medical treatment can be promptly initiated
to avert metabolic crises and prevent
irreversible neurological and developmental
sequelae.

Wilson and Juegner criteria for screening of disease

The condition sought should be an important

health 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 early
symptomatic stage.
There should be a suitable test or examination.

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 and
treatment of patients diagnosed) should be
economically balanced in relation to possible
expenditure on medical care as a whole.
Case-finding should be a continuing process and
not a once and for all project

1. Education
Professionals, 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

Incidence of different diseases in India

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

Core Panel
Following diseases could be included in Core
panel :
Congenital Hypothyroidism
CAH
G6PD Deficiency
Galactosemia
Phenylketonuria
MSUD
Deafness

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 fibrosis
5. MCAD
6. Alkaptonuria and 7. IEM- 30-40

In India . . . .
National Neonatology Forum recommends 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

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 & low
platelet counts) during pregnancy: seen in women carrying fetuses with
long-chain-3-hydroxyacyl-coenzyme dehydrogenase deficiency (LCHADD)

Approach to newborn with suspected

metabolic disorder

Approach to newborn with persistent

hypoglycemia and suspected IEM

Congenital hypothyroidism in an
infant 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 no
social 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.

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 10
points in the IQ are lost.
Source: IAP color Atlas
Untreated con.
Hypothyroidism.

When to collect blood for NBS?

For NBS blood should be collected before
discharge 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.

The key factors that are critical for scale up are :

1. Manpower
2. Budget
3. Phasing out of the program
4. Logistics
5. Advocacy and consent

One important factor for a NBS programme is

the likely cost of screening versus case-finding.

Recommendations
Universal newborn screening should be introduced in phases in
our 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 by
2 weeks of age to detect possible missed cases. Sick and
premature babies should also have metabolic screening
performed by 7 days of life.
The disorders to be screened our country have been classified
into three groups, depending on availability of resources.
A positive screening test should always be followed with parental
counselling, confirmatory test, genetic counselling and early
dietary or other interventions.
There is a need for comprehensive planning for NBS at state and
national levels .

References :
1). Mudur G. India plans universal screening of newborns amid logistical
challenges. BMJ. 2012;8:345.
2). http://news.chennaionline.com/chennai/ICMR-release results-of-study-onCongenital-Hypothyroidism/58cca920-765d-492b-8fd3-9b34a8ac2351.col
3). Kapoor S, Kabra M. Newborn screening in India; current perspectives. Indian
Pediatr. 2010;47:219-24.
4).Manglik AK, Chatterjee N, Ghosh G. Umbilical cord blood TSH levels in term
neonates: a screening tool for congenital hypothyroidism. Indian Pediatr.
2005;42:1029-32.
5).Rama Devi AR, Naushad SM. Newborn screening in India. Indian J Pediatr.
2004;71:157-60
6)Nair H. Neonatal screening program for G6PD deficiency in India: need and
feasibility. Indian Pediatr. 2009;46:1045-9.