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International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia.
- Source :
-
Hormone research in paediatrics [Horm Res Paediatr] 2024; Vol. 97 (2), pp. 113-125. Date of Electronic Publication: 2023 May 15. - Publication Year :
- 2024
-
Abstract
- Introduction: Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend the use of two-tier testing and gestational age cutoffs to minimise false-positive results. The aims of this study were to describe (1) the approaches; (2) protocols used; and (3) available outcomes for CAH screening internationally.<br />Methods: All members of the International Society for Neonatal Screening were asked to describe their CAH NBS protocols, with an emphasis on the use of second-tier testing, 17-hydroxyprogesterone (17OHP) cutoffs, and gestational age and birth weight adjustments. If available, screening outcomes were requested.<br />Results: Representatives from 23 screening programmes provided data. Most (n = 14; 61%) recommend sampling at 48-72 h of life. Fourteen (61%) use single-tier testing and 9 have a two-tier testing protocol. Gestational age cutoffs are used in 10 programmes, birth weight cutoffs in 3, and a combination of both in 9. One programme does not use either method of adjusting 17OHP cutoffs. Case definition of a positive test and the response to a positive test differed between programmes.<br />Conclusions: We have demonstrated significant variation across all aspects of NBS for CAH, including timing, the use of single versus two-tier testing and cutoff interpretation. Collaboration between international screening programmes and implementation of new techniques to improve screen efficacy will facilitate ongoing expansion and quality improvement in CAH NBS.<br /> (© 2023 S. Karger AG, Basel.)
Details
- Language :
- English
- ISSN :
- 1663-2826
- Volume :
- 97
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Hormone research in paediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 37231960
- Full Text :
- https://doi.org/10.1159/000530754