September 23, 2026 · Prenatal diagnosis · DOI: 10.1002/pd.70246

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

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The authors aimed to enhance clinical care in prenatal genomic sequencing by systematically curating genes associated with severe fetal conditions such as hydrops and stillbirth. Through the efforts of the ClinGen Prenatal Gene Curation Expert Panel, they reviewed and published evidence summaries for 63 disease relationships involving 61 genes linked to clinically significant fetal phenotypes. This work addresses a critical gap in genomic medicine, improving diagnosis and counseling for severe prenatal conditions.

Stephanie N Galloway, Jessica L Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J Wapner, Wendy Chung, Ignatia B Van den Veyver

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