Open AccessNewborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India
Author(s) -
Jyotsna Verma,
Prodyot Kumar Roy,
Divya C. Thomas,
Geetu Jhingan,
Abhishek Singh,
Sunita BijarniaMahay,
Ishwar C. Verma
Publication year - 2019
Publication title -
journal of pediatric intensive care
Language(s) - English
Resource type - Journals
eISSN - 2146-4618
pISSN - 2146-4626
DOI - 10.1055/s-0039-1698424
Subject(s) - medicine , congenital adrenal hyperplasia , newborn screening , congenital hypothyroidism , glucose 6 phosphate dehydrogenase deficiency , pediatrics , thyroid stimulating hormone , thyroid
Newborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent. Performance evaluation of testing reveals a robust screening program with 100% sensitivity and >99% specificity. Hence, we recommend NBS for early diagnosis and treatment to prevent adverse outcomes.