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
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Papai Roy
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Divya C. Thomas
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Geetu Jhingan
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Azad Singh
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Sunita Bijarnia-Mahay
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
,
Ishwar C. Verma
1  Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India
› Author Affiliations
Further Information

Publication History

13 May 2019

30 August 2019

Publication Date:
14 October 2019 (online)

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.

Note

The work described in this article has not been published previously. It is not under consideration for publication elsewhere. Its publication is approved by all authors. This work did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.


Authors' Contributions

J.V. and I.C.V. conceptualized and designed the study; J.V., P.R., D.C.T., G.J., A.S., and S.B. acquired, analyzed, and interpreted the data; J.V., D.C.T., and P.R. drafted and revised the article. All the authors approved the article.