Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
21-hydroxylase deficiency
CAH
CYP21A2
DBS
PPV
congenital adrenal hyperplasia
dried blood spots
neonatal screening
positive predictive value
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
28 Aug 2020
28 Aug 2020
Historique:
received:
11
08
2020
revised:
25
08
2020
accepted:
26
08
2020
entrez:
26
11
2020
pubmed:
27
11
2020
medline:
27
11
2020
Statut:
epublish
Résumé
Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually. Dried blood spot (DBS) screening with measurement of 17-hydroxyprogesterone (17OHP) is also offered to older children moving to Sweden from countries lacking a national DBS screening program. Here, we report an update on the CAH screening from January 2011 until December 2019.
Identifiants
pubmed: 33239597
pii: ijns6030071
doi: 10.3390/ijns6030071
pmc: PMC7570065
pii:
doi:
Types de publication
Journal Article
Langues
eng
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