Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit

Neonatal screening has not been demanded by pediatricians nor parents in India because of limited resources, inadequate health information, early hospital discharges, a large rate of deliveries at home, and challenges with follow-up of results. This study was conducted based on the laboratory e-records from the Newborn Screening Unit, where Dried Blood Spot-based analysis was performed for G6PD deficiency, congenital adrenal hyperplasia, neonatal hypothyroidism, biotinidase deficiency, and galactosemia. The total study population comprised 3210 neonates. Overall, 329 children (10.2%) had some form of inherited disorder, and 12 (0.4%) suffered from two disorders concomitantly. The highest number of children were suffering from partial biotinidase deficiency (4.5%), followed by G6PD deficiency (2.7%). There was no significant difference in the levels of measured analytes in males and females, except for 17-OHP, which was significantly higher in males. Compared with females, males were more likely to have G6PD and biotinidase deficiency. Our study provides a snapshot of five inherited disorders previously unexamined by neonatal screening in Eastern India. We found a high prevalence of G6PD deficiency and other substantive neonatal conditions. Now that the significant prevalence of these disorders is known, stakeholders should work with policy-makers to institute national-level screening to determine their distribution in the broader population and address them in affected groups. Further studies are needed to identify effective implementation strategies, overcome financial and logistical barriers to an NBS program, and assess whether such a program can reach and benefit all communities, especially the most vulnerable.