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Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center.
Frontiers in Genetics · · Journal Article · Open access
Cai, Lin + more
Abstract ↗AI summary
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Whole-exome sequencing in 179 fetuses with ultrasound-detected abnormalities at a tertiary center identified pathogenic or likely pathogenic variants explaining the phenotype in 32 cases (17.88%).
- Why it matters: Genetic etiologies for fetal ultrasound abnormalities are often unclear, leaving families without definitive molecular diagnoses and limiting recurrence-risk counseling and management.
- What they did: Invasive prenatal testing was followed by WES across 179 abnormal fetuses (132 single-system, 47 multisystem), with family studies used to classify inheritance and confirm variants.
- The result: The overall pathogenic/likely pathogenic yield was 33/179 (18.44%), and most ultrasound phenotypes matched disease-causing gene profiles, supporting personalized counseling and pregnancy management for high-risk families.
The findingWhy it mattersWhat they didThe result
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