ArticleArchives of gynecology and obstetrics2026
Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.
Article in Archives of gynecology and obstetrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Diagnostic yield versus clinical utility in prenatal genomic testing for fetal CNS anomalies.Archives of gynecology and obstetrics · 2026Article
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5 authors.
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Abstract
objectiveTo assess the diagnostic yield of chromosomal microarray analysis (CMA) and exome sequencing (ES) in fetuses with central nervous system (CNS) anomalies across two study periods (January 2008 to June 2016 and July 2016 to December 2024), and to evaluate long-term outcomes.
methodsThis retrospective study included cases with fetal CNS anomalies undergoing invasive testing by G-banded karyotyping and, in selected cases, additional CMA and/or ES. Fetuses were classified into four groups: isolated CNS malformations, isolated CNS plus (additional minor abnormalities and dynamic findings), complex CNS anomalies, and multisystem malformations.
resultsAmong 780 cases, causative findings were identified in 23.8% (25/105) by CMA and 39.0% (73/187) by ES. Use of CMA/ES increased in the second study period (16.3% vs. 59.7%), resulting in more pathogenic findings (26 vs. 72 cases), whereas diagnostic yield among tested cases decreased without significance. The highest ES yield was observed in multisystem CNS anomalies; isolated CNS plus cases showed higher yields than truly isolated CNS cases. In an exploratory subgroup analysis, isolated CNS plus cases with polyhydramnios had a higher CMA/ES yield than truly isolated cases. Among 91 live-born children with follow-up, 49.5% (45/91) had global developmental delay, which was more frequent with pathogenic findings (90.0%, 18/20; p = 0.002) and increasing anomaly complexity (11.1 to 81.8%; p < 0.001).
conclusionUptake of CMA and ES increased over time and resulted in more etiologic diagnoses. In tested cases, both methods provided meaningful diagnostic yield in fetuses with CNS anomalies and may contribute to prognostic assessment and prenatal counseling.
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