Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India.
G6PD
congenital adrenal hyperplasia
hypothyroidism
newborn screening
Journal
Journal of pediatric intensive care
ISSN: 2146-4618
Titre abrégé: J Pediatr Intensive Care
Pays: Germany
ID NLM: 101592756
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
13
05
2019
accepted:
30
08
2019
entrez:
28
1
2020
pubmed:
28
1
2020
medline:
28
1
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31984156
doi: 10.1055/s-0039-1698424
pii: 1900022
pmc: PMC6978160
doi:
Types de publication
Journal Article
Langues
eng
Pagination
40-44Informations de copyright
© Thieme Medical Publishers.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
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