Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

Jyotsna Verma; Papai Roy; Divya C. Thomas; Geetu Jhingan; Azad Singh; Sunita Bijarnia-Mahay; Ishwar C. Verma

doi:10.1055/s-0039-1698424

Journal of Pediatric Intensive Care, Table of Contents

J Pediatr Intensive Care 2020; 09(01): 040-044
DOI: 10.1055/s-0039-1698424

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

Jyotsna Verma

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Papai Roy

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Divya C. Thomas

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Geetu Jhingan

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Azad Singh

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Sunita Bijarnia-Mahay

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

,

Ishwar C. Verma

¹Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India

› Author Affiliations

Abstract

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.

Keywords

congenital adrenal hyperplasia - G6PD - hypothyroidism - newborn screening

Full Text

References

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