Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort
Authors' conclusion
This large-scale prospective study showed that a refined LC-MS/MS algorithm using 21DOC and 11DOC/17OHP greatly improved 21OHD screening specificity, eliminating LBW-related FPs and enhancing NBS efficiency.
Study context
- Population
- Newborns screened for 21-hydroxylase deficiency in Tokyoprospective, 2021–2025
- Participants
- 326,006 newborns
- Comparison
- Original vs refined second-tier LC-MS/MS screening algorithm for 21OHD
- Outcome
- Screening performance
Methodological detailsprospective evaluation, retrospective validation of revised algorithm, second-tier LC-MS/MS
- Prospective evaluation
- Retrospective validation of revised algorithm
- Second-tier LC-MS/MS
Performance
As reported in the abstract
| Strategy | Sensitivity | PPV, initial positives | PPV, final referrals |
|---|---|---|---|
| Original algorithm | 100% | 9.0% | 44.8% |
| Refined algorithm | — not stated in the abstract | 87.2% | 89.1% |
Sensitivity
Original algorithm100%
Refined algorithm— not stated in the abstract
PPV, initial positives
Original algorithm9.0%
Refined algorithm87.2%
PPV, final referrals
Original algorithm44.8%
Refined algorithm89.1%
— not stated in the abstract
- Refined algorithm reduced low-birth-weight (LBW)-related recalls
- more than 99%
Further findings
False-positive (FPs) in LBW infants (original algorithm)
- Share of initial positives that were unaffected LBW infants
- 75.7%
Steroid profiling: 21DOC
- Undetectable 21DOC in LBW FPs
- 99.2%
- Elevated 21DOC in all true positives
Original publication
Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort. J Clin Endocrinol Metab. Published 9 September 2025. doi:10.
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