Birth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population.

Abstract

Although most of the babies are born healthy and appear normal, a few babies exhibit abnormal medical conditions. Newborn screening for inborn errors of metabolism is an established panel of tests that assist in the timely recognition of treatable disorders. 8007 Neonates born in a well known hospital from August 2019 to August 2021 were screened for the following five tests: Thyroid stimulating Hormone, 17-hydroxy progesterone (17-OHP), Total Galactose(GAL), Glucose 6 Phosphate Dehydrogenase (G6PD) and Biotinidase (BTD). Dried blood spots (DBS) were processed for the above tests using Enzyme-linked immunosorbent assay (ELISA), colorimetric, and dissociation-enhanced lanthenide-fluroscent immunoassay (DELFIA) techniques. DBS with abnormal results were retested for confirmation. Affected infants were recalled for venous blood collection for confirmation. We found 4 newborns with Hypothyroidism (CH 1: 2002), 4 with congenital adrenal hyperplasia (CAH 1:2002), 9 with G6PD deficiency (1:900), one with galactose-phosphate-uridyl transferase deficiency (1: 8000) and one with biotinidase deficiencyduring the study period. Parents of G6PD deficient babies were counseled. Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasiababies were treated and followed up to find the response. The outcome of the screening result shall prevent the family and society in turn from facing severe and unbearable consequences.