New Born Screening in India: A Time to Implement National Policy

Abstract

India has the second largest population in the world and ~60,000 children are born every day. Due to the high birth rate in the country, a large number of infants are born with congenital malformations, genetic conditions like inborn error of metabolic disorders (IEM). Many of these IEMs are treatable if diagnosed at an early age. Interestingly, there are a few conditions like congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), Glucose 6 phosphate dehydrogenase (G6PD) deficiency that are treatable with a minimum of cost if identified early, which is the primary norm for new born screening (NBS). Hence, the presence of a screening program that screens newborn babies for common treatable conditions is essential to identify affected babies early. This shall aid in significant reduction of infant morbidity, mortality in the country with a significant reduction in national health burden. The present article describes the key points of a successful newborn screening program. It emphasizes the need for setting up a centralized screening program in India for the treatable genetic conditions: congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency.

Conflict of Interest: None declared

Source of Support: Ms. Aadhira Nair is a junior research fellow on a research project funded by Gujarat State
Biotechnology Mission (GSBTM), Govt of Gujarat, India.