Newborn and Antenatal Screening

Ranjan Kumar Pejaver, Sumitha Nayak

This article is reprinted with the permission from the authors.

Pejaver RK, Nayak S. Newborn and antenatal screening. Practitioner Series No. 10, Karnataka Medical Council, Bengaluru.

Inborn errors of metabolism (IEM) are a wide spectrum of disorders that are present since birth. Many of them are debilitating to the newborn and some are fatal. Some of these metabolic disorders require certain foods to be avoided, while some require a specific type of diet to be followed, in order to achieve optimal growth and development. These require to be identified at birth, so that the necessary interventions can be initiated early.

The screening of newborns using tandem mass spectroscopy (MS/MS technology) allows for the detection of more cases as compared with clinical methods of diagnosis alone. This is a powerful technique that has a significant role in the newborn screening programs. It permits the detection and quantification of many errors of the amino acids, urea cycle disorders, and organic acid and fatty acid oxidation defects. It is possible to do multiple metabolite analyses for the detection of numerous metabolic disorders in a single analytical run.

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