High Risk Stratified Neonatal Screening

Abstract

Objectives

To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening.

Methods

A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography.

Results

A total of 851 babies with an index of suspicion were investigated using a combination of these modalities. The yield from this sample was 31.7%, better than reported in literature owing to a more specific inclusion criteria. Methylmalonic acidemia followed by Propionic acidemia were the most common organic acidemias, while maple syrup urine disease and classic citrullinemia were the common aminoacidopathies.

Conclusions

If all the sick care neonatal unit patients would undergo high risk stratified screening, the likely benefit of the high end technologies currently available in India would become apparent. Though this is not the opportune moment to start the expanded screening program in the country, none of the neonates admitted for any of these errors should be bereft of the diagnosis. This has implications not only for the index case but for its impact on the family’s reproductive decisions. The Task Force consitituted by the Indian Council of Medical Research definitely feels that the high risk expanded screening program should be implemented for the sick newborns getting admitted in the Neonatal Intensive Care Units or the Sick Care Newborn Units.