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Category: Volume 10 Issue 08 August 2022
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Title: Newborn Screening Program: A pilot study in Ahmedabad

Authors: Dr Chirag D Shah, Dr Ashita Singhal, Dr Abhishek Singh Rajput

 DOI: https://dx.doi.org/10.18535/jmscr/v10i8.04

Abstract

Introduction: Newborn screening (NBS) aims towards early detection of genetic disorders which can be treated to reduce complications and mortality in early childhood.

From September 2017 through March 2020, 31,665 newborns were screened for seven diseases namely Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Glucose-6- Phosphate Dehydrogenase (G6PD) deficiency, Sickle Cell Disease, Biotinidase deficiency, Galactosemia and Phenylketonuria at various govt colleges across Ahmedabad over a period of 3 years under the Red Cross Society Pilot Project on Newborn Screening . The incidence and gender wise distribution was analysed while comparing it with the studies from other region. There is paucity of published studies in the newborn population screening from India. The current study can serve as a substantial source of data for the region and the nation.

Methods: Dried blood spots were taken from all stable newborns on 3rd day of life and  processed on the principle of time-resolved Fluoroimmunoassay (Perkin Elmer GSP)

Name of statistical test: Chi-Square Test

Results & Conclusions: Around 4% of the population turned positive for any one of the diseases under screening. Sickle Cell Disease & Congenital Hypothyroidism were the most common (1.36% each). Biotinidase deficiency was the least common (0.18%).

Higher incidence of Congenital Hypothyroidism was observed compared to standard literature & other studies. Racial and geographical variations can attribute to the varying prevalence amongst disorders like Sickle Cell Disease & G6PD deficiency. The thresholds implied in screening are also an important determinant.

We recommend further studies and more robust screening of newborns with subsequent accessible confirmatory tests.

Keywords: Newborn Screening, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia etc.

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Corresponding Author

Dr Ashita Singhal

Junior Resident, Department of Paediatrics, BJ Medical College, Ahmedabad, India