International Journal of Neonatal Screening, Volume 12, Issue 2
2026 June - 26 articles
Cover Story: This study investigated 21-deoxycortisone (21-DE) as a novel newborn screening marker for congenital adrenal hyperplasia (CAH), a life threatening disorder of infancy. Screening using only 17-hydroxyprogesterone is sensitive but many false positives are encountered. The study measured 21-DE by LC-MS/MS in 492 newborn screening specimens, including 42 true positives, 11 false negatives, and 439 false positives for CAH. 21-DE was detected in all true positive and 10 of 11 false negative samples, and in none of the false positive specimens, yielding 98.1% sensitivity and 100% specificity, outperforming an existing marker, 21-deoxycortisol (88.7% sensitivity, 99.8% specificity). Incorporating 21-DE into second-tier screening protocols could meaningfully improve CAH detection accuracy. View this paper
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Int. J. Neonatal Screen. - ISSN 2409-515X