Newborn Screening: A Practical Guide to Pediatricians and Neonatologists

Abstract

Newborn screening, while universal in most high- and middle-income countries, is still in its nascent stages in India. It is estimated that only <3% of neonates born in India in 2021 were screened for disorders. The disorders that can be picked up early by newborn screening range across endocrine, metabolic, cardiac, hematological, visual, and auditory defects. The burden of disorders is higher in India than in the global estimates. As a result, many neonates with easily treatable disorders are being missed in the neonatal period, resulting in increased morbidity and mortality. Worldwide, studies have shown that universal newborn screening is feasible and cost effective. As India does not have a national policy and/or program existent on newborn screening, pediatricians and obstetricians have an important role to play to improve the newborn screening rates in India. Moreover, the screening needs to be comprehensive, extending beyond some limited blood tests, so that the neonates will be maximally benefited. With this background, we have provided a brief overview of newborn screening for practicing pediatricians and neonatologists. The purpose of this article is to help pediatricians and neonatologists to initiate newborn screening in their units.