The Need for Mandatory Newborn Screening in India: A Retrospective Analysis of 3-Year Data From a Multispecialty Private Hospital in Uttar Pradesh, India

Tuhina Gupta, Tanusree Gupta, Daksh Yadav, Mukulesh Gupta

Abstract

Background and Aim: Newborn screening (NBS) is done in India but is not mandatory. As of now, the number of diseases in the list of screening is not standardized among hospitals and laboratories in India. The aim of this study was to find the prevalence of 4 commonly occurring inborn errors of metabolism (IEM) in neonates.

Materials and Methods: This retrospective study enrolled 396 neonates (born between October 2018 and December 2021) aged up to 28 days, after obtaining their parents’ consent. The neonates were screened for 4 IEM—congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase (G6PD) deficiency, and classical galactosemia (CG).

Results: Among the 396 neonates, the prevalence of G6PD deficiency was more (2.27%) compared with that of the remaining 3 conditions. The prevalence of CAH and CH was only 0.25%, while the prevalence of CG was 0.51%.

Conclusion: In summary, the current findings indicate that screening for all treatable and untreatable metabolic diseases should be made compulsory in all health care centers in India. It helps in the early diagnosis and treatment. Further, epidemiologic data gathered from this initiative can be used for further research.