Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a chandigarh experience.
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Date
2010-09
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Abstract
Objective To establish newborn screening in Indian scenario
that could lay a framework for future such initiatives.
Three disorders namely, congenital hypothyroidism (CH),
congenital adrenal hyperplasia (CAH) and glucose-6-
phosphate dehydrogenase deficiency (G-6-PDD) were
selected for a preliminary study for newborn screening.
Methods Heel-prick blood samples were collected from liveborn
neonates at 24–48 h of birth as a part of a screening
program after prior written consent from the parents. Blood
levels of glucose-6-phosphate-dehydrogenase enzyme (G-6-
PD), thyroid-stimulating hormone (TSH) and 17-α-OH
progesterone (17-OHP) were measured using DELFIA time
resolved fluoroimmunoassay.
Results Six thousand eight hundred and thirteen (6,813)
neonates (86.3%), out of a total of 7,893 live births in our
institute during the period May’2007 through July’2009,
were screened for CAH, CH and G6PD deficiency. Major
reason for missing samples was early discharge of the
neonates and admission to the neonatal intensive care unit.
G-6-PD deficiency was confirmed in 61 cases, congenital
hypothyroidism (CH) in 2 cases and congenital adrenal
hyperplasia (CAH) in 1 neonate, accounting for an incidence
of 1/112 for G-6-PDD, 1/ 3400 for CH and 1/6813 for CAH.
Conclusions Preliminary data on prevalence of various
genetic disorders viz. G-6-PDD, CH and CAH in the
population of this region revealed that G-6-PDD is most
prevalent disorder followed by CH and CAH. More
efforts need to be undertaken to create awareness and
emphasis on significance of preventive testing to make
screening a successful program in India.
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Keywords
Neonatal screening in India, Neonatal screening, Genetic disorders in India
Citation
Kaur Gurjit, Srivastav Jyoti, Jain Suksham, Chawla Deepak, Chavan Bir S, Atwal Rajiv, Randhawa Gurpreet, Kaur Avneet, Prasad Rajendra. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a chandigarh experience. Indian Journal of Pediatrics. 2010 Sept; 77(9): 969-973.