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

Authors

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

Published in

Prenatal diagnosis. Sep 23, 2026. Epub Sep 23, 2026.

Abstract

Expert prenatal focused gene-disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing.
An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe anomalies using the ClinGen framework.
The ClinGen Prenatal GCEP published evidence summaries for 63 disease relationships involving 61 genes with unique and clinically severe prenatally observed fetal phenotypes.
The ClinGen Prenatal GCEP work addresses a gap in genomic medicine by deepening our understanding of lethal and severe prenatal phenotypes, while supporting accurate diagnosis, counseling, and future treatment strategies in prenatal care.

PMID:
42776142
Bibliographic data and abstract were imported from PubMed on 23 Sep 2026.

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