The Indian Practitioner

Abstract

Newborn screening (NBS) is performed to identify genetic and biochemical disorders which cannot be identified clinically by routine examination after birth. Very few studies are available from India on the incidence of various disorders that are routinely identified by NBS. We present here the data from our database.

Methods: In this retrospective study, we collected data from our NBS database. We included all infants in the study for whom NBS was performed.

Results: We performed 48,600 tests over a period of 10 years. Among these, 1979 (4.1%) were found to be abnormal. Repeat testing was required in 98 (0.2%) of the cases. We found the incidence of congenital hypothyroidism, congenital adrenal hyperplasiaand G6PD deficiency were 1.2, 0.3 and 20 per 1000 live births respectively. Among the inborn errors of metabolism, the common disorders were Methymalonic academia (MMA) secondary to maternal vitamin B12 deficiency (5 per 1000) and transient tyrosinemia (1.1 per 1000).

Conclusion: Newborn screening saves lives. It has been shown to be effective in preventing handicap around the world and many countries have programmes on newborn screening for over 5 decades. In our study, had we not screened, we would have contributed 1055 children to mental retardation (958 G6PD deficiency and 57 children with congenital hypothyroidism) and probably would have lost another 100 babies who would have become statistics in India and 17 babies from our centres would have contributed to our Hijra population.

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