ArticleOrphanet journal of rare diseases2025
Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo explore the use of genomic screening for congenital adrenal hyperplasia (CAH) based on long-read sequencing (LRS), aiming to provide an effective method for LRS-based screening (LRSBCS).
methodsAll newborns underwent traditional CAH screening via the collection of dried blood spots. We conducted a retrospective clinical study of 73 cases, including 12 confirmed cases of CAH, 18 cases with false-positive biochemical screening results, and 43 healthy newborns as control. Full-length CAH-related genes, including CYP21A2, CYP11B1, CYP17A1, HSD3B2, and STAR were amplified and sequenced on a Sequel II platform (Pacific Biosciences).
resultsAmong the 235,999 newborns, 12 were confirmed to have CAH, based on biochemical and/or genetic testing. The positive-predictive values of the initial and positive recall results were 0.60% (12/1958) and 3.68% (12/326), respectively. The 12 children with CAH were accurately diagnosed using LRSBCS. For LRS, the Bayesian-estimated sensitivity is 96.2% (95% CrI: 80.3%-99.9%) and the specificity is 99.2% (95% CrI: 98.0%-99.9%). Eleven pathogenic variants of CYP21A2 were detected, including eight SNVs/indels and three deletions. The most frequent variants were c.293-13 C > G (7/11) and c.518T > A (7/11). Furthermore, LRSBCS can directly report the characteristics of gene variants (cis or trans mutations) and effectively distinguish between functional genes and pseudogenes.
conclusionsLRSBCS represents a novel molecular screening approach tailored specifically for CAH, demonstrating preliminary feasibility in clinical settings. CLINICAL TRIAL NUMBER: Not applicable.
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