International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia
Authors' conclusion
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.
Study context
- Population
- Newborn screening programmes for congenital adrenal hyperplasia (CAH), members of the International Society for Neonatal Screening
- Participants
- 23 screening programmes
- Outcome
- CAH newborn screening (NBS) protocols
Methodological detailsinternational survey of newborn screening programmes
- International survey of newborn screening programmes
Main finding
As reported in the abstract
- Recommend sampling at 48-72 h of life
- 14 (61%)
- Single-tier testing
- 14 (61%)
- Two-tier testing protocol
- 9
- Gestational age cutoffs only
- 10 programmes
- Birth weight cutoffs only
- 3
- Combination of gestational age and birth weight cutoffs
- 9
- No adjustment of 17OHP cutoffs
- 1 programme
Observational data: associations, not effects.
Original publication
International Newborn Screening Practices for the Early Detection of Congenital Adrenal Hyperplasia. Horm Res Paediatr. Published 15 May 2023. doi:10.
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