Genetics and Stillbirth

Abstract

Stillbirth affects over 3 million pregnancies globally and remains unexplained in roughly half of US cases. Genetic testing has uncovered chromosomal causes in approximately 6% to 13% of stillbirths, while exome sequencing has identified Mendelian variants in an additional approximately 5% to 10%. Family-based genome sequencing may allow identification of inherited and de novo pathogenic variants with increased diagnostic yield. We reviewed current knowledge ranging from rare monogenic disorders and polygenic risk to epigenetic dysregulation contributing to stillbirth. We provide a clinical framework aimed at refining stillbirth diagnosis toward improved clinical management of stillbirth in future pregnancies.

Keywords: Autopsy; Chromosomal microarray; Exome sequencing; Genome sequencing; Inherited; Stillbirth.