National newborn screening program — Still a hype or a hope now?

Abstract

The year 2013 marks 50 years of both newborn screening and the Indian Academy of Pediatrics. India has seen a lot of change in terms of motivation, evolution and implementation of newborn screening as pilot projects for few disorders. Facilities for implementing screening using tandem mass spectrometry or what is termed as expanded newborn screening have also become available. We attempt to discuss the evolution of newborn screening and the way to carry it forward in the country. The current strengths, the major obstacles and gritty challenges are enlisted. No moment could be so opportune than this year to discuss the rainbow of hope with all its colors with respect to newborn screening in our country.

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

“…It is an inherited metabolic disorder that fulfils the Wilson & Jeugner criteria for Newborn screening [17]. It is part of newborn screening programme of many American and European countries unlike ours [18].…”

Current status of newborn screening worldwide: 2015

“…167 While the percentage coverage from NBS has increased over years, it is still not quantifiable. Some state programs are now beginning, and a number of provincial pilots are ongoing, including some efforts in the private sector.…”

Two tier analysis of organic acid disorders: a comprehensive approach for newborn screening

“…[23] Several investigators stressed the importance of screening in India, necessitating nation-wide large-scale screening. [24][25] [26] A case study reported previously showed, 55% of mental retardation due to organic acidemia. [6]These Indian studies clearly demonstrate higher incidence of IEM in the background of poor development of NBS model.…”