Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?
Authors' conclusion
Incorporation of molecular testing could improve the accuracy of CAH NBS, although some distinct challenges of molecular testing may need to be considered before implementation by NBS programs.
Study context
- Population
- Live births screened by Minnesota newborn screening (NBS) for congenital adrenal hyperplasia (CAH) during 2015
- Participants
- 68,659 live births
- Comparison
- Molecular-based 3-tier CAH NBS protocol vs conventional steroid-based 2-tier protocol
- Outcome
- Screening accuracy (false negatives (FNs), FPs, true positive (TPs))
Methodological details1-year retrospective analysis, multitier protocol applied post hoc, Minnesota-specific CYP21A2 pathogenic variants panel
- 1-year retrospective analysis
- Multitier protocol applied post hoc
- Minnesota-specific CYP21A2 pathogenic variants panel
Performance
As reported in the abstract
| Test or model | False negatives | False positives | True positives |
|---|---|---|---|
| 3-tier protocol | 0 | 52 | 3 |
| Two-tier steroid-based screening | 2 | 91 | 1 |
False negatives
3-tier protocol0
Two-tier steroid-based screening2
False positives
3-tier protocol52
Two-tier steroid-based screening91
True positives
3-tier protocol3
Two-tier steroid-based screening1
Further findings
Development of Minnesota-specific CYP21A2 panel and molecular assay
- Families with CYP21A2 gene sequencing
- 103
- Pathogenic variants in Minnesota-specific panel
- 21
- Molecular assay accuracy and reproducibility
- 100%
Original publication
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia? J Clin Endocrinol Metab. Published 3 May 2024. doi:10.
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