In a cohort of 1,185 fetuses with structural anomalies undergoing prenatal exome sequencing, inherited variants in autosomal dominant disease genes accounted for 11.5% of diagnoses and conferred a recurrence risk in nearly one in five families. Often overlooked by standard filtering strategies, these findings have important implications for genetic counselling, parental assessment and the design of prenatal genomic services. Please see the study by Graham et al. https://jmg.bmj.com/content/early/2026/02/25/jmg-2025-111301
Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
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