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
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.
OBJECTIVE: Expert prenatal focused gene-disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing.
METHODS: 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.
RESULTS: The ClinGen Prenatal GCEP published evidence summaries for 63 disease relationships involving 61 genes with unique and clinically severe prenatally observed fetal phenotypes.
CONCLUSION: 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.