Newborn screening: Need of the hour

Abstract

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.