Indian Pediatr 2015;52: 373-374
Newborn Screening in India
S Sachidananda Kamath
National President, Indian Academy of Pediatrics,
ewborn screening for common metabolic and genetic
disorders should be an integral part of neonatal care as early detection
and treatment can help prevent intellectual and physical defects and
life threatening illnesses . The list of conditions for which
screening is carried out differs from country to country, based on the
prevalence of the condition and available resources. Universal screening
for about 40 to 50 metabolic disorders is mandatory in US, Europe and
many other countries across the world. Though universal screening is a
cost-intensive exercise, the benefits far exceed the cost as it helps in
reducing the mortality and morbidity of these diseases. In 1968, Wilson
and Jungner  proposed the following criteria for inclusion of a
condition in screening: (i) condition should have an important
health problem/frequency; (ii) test should be acceptable to the
population (reliable/simple); (iii) disease does not manifest at
birth/ routine examination; (iv) treatment will prevent mortality
and morbidity; (v) delay in diagnosis will cause irreversible
damage; and (vi) screening is cost-effective.
The conditions for which neonatal screening has been
proposed in Indian scenario include hearing loss, congenital
hypothyroidism, congenital adrenal hyperplasia (CAH) and
glucose-6-phosphate dehydrogenase (G6PD) deficiency [3-10]. Hearing loss
has a high incidence, and if not corrected before 6 months of age,
may lead to permanent hearing and speech impairment. Congenital
hypothyroidism also has a high incidence and is the most
important preventable cause of intellectual disability. Congenital
adrenal hyperplasia. If undetected at birth, can result in mortality,
morbidity or genital abnormalities. G6PD deficiency has a relatively
high incidence in Northern parts of the country, and cost of testing is
affordable. Considering the prevalence of these conditions and huge
financial implications for universal screening for a developing country
like India, a practical approach will be to categorise the conditions as
Category A (all newborns): Screening for
congenital hypothyroidism and hearing should be a must in Indian
scenario. Screening for CAH and G6PD deficiency may be added in a phased
manner. G6PD screening should be done in Northern states of the country.
Screening for Sickle cell disease and other hemoglobinopathies should be
undertaken in pockets of high incidence.
Category B (High risk screening): Screening for
the following disorders should be conducted in the high risk population
(consanguinity, previous children with unexplained intellectual
disability, seizure disorder, previous unexplained sibling deaths,
critically ill neonates, newborns/children with symptoms/
signs/investigations suggestive of inborn errors of metabolism). These
conditions include phenylketonuria, homocystinuria, alkaptonuria,
galactosemia, sickle cell anemia and other hemoglobinopathies, cystic
fibrosis, biotinidase deficiency, maple syrup urine disease,
medium-chain acyl-CoA dehydrogenase deficiency, tyrosinemia and fatty
acid oxidation defects.
Category C: Screening (in resource-rich
setting/expanded screening) for 30-40 inherited metabolic disorders may
be offered to ‘well-to-do’ families, especially in urban settings where
facilities for sending sample to laboratory are available.
India is going through a progressive transitional
phase of control over infant mortality and morbidity due to infections,
and emergence of genetic conditions.
The WHO has recommended that genetic
services should be introduced in countries with an infant mortality rate
(IMR) less than 50. India with an IMR of 40 should introduce newborn
screening and genetic services.
The Indian Academy of Pediatrics strongly
advocates inclusion of newborn screening in our
public health policy, and will
offer its technical and logistic inputs to the
Government of India for initiating this program.
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