To Study the Need and Viability of a Newborn Screening Program in India

There are some serious congenital abnormalities and inborn errors of metabolism that leads to disability and death of an infant. Some of these conditions have effective treatment or management if detected early. By the time the symptoms are manifested it is often too late and causes severe physical and mental disability in what could have been a completely normal child.Hence it is imperative in diagnosing these disorders at the earliest. In the developed countries all the newborn babies are screened for these conditions through a newborn screening programme (NBS). However\ the concept is in its below infancy stage in India mainly because the health policies have typically targeted mortality and infectious morbidities but not disabilities. There are no data currently available in India to establish the prevalence of these disorders and the disease burden due to this. It may not be viable economically and ethically to screen for a complete range of disorders for which diagnostic modalities are available. But a screening programme would be possible for a biochemically well identified disorder, which is having known incidence especially in our population, and for which an effective treatment will be available. The proposed project aims at establishing the need for a nationwide NBS by establishing the prevalence of these disorders and thus to propose the viability of this screening program by considering the disease burden in our population.