IGM Genetic Analyses Provide Insight Into Stillbirth

August 12, 2020

Researchers at the Columbia University Vagelos College of Physicians and Surgeons (VP&S) have uncovered an array of new genes that cause stillbirth, significantly increasing the understanding of the condition’s genetic foundations. The findings suggest that genetic analysis could be used to counsel parents who have previously experienced stillbirth and to unlock new human biology.

Using both standard and advanced analysis techniques, the team led by IGM Director David Goldstein, PhD, and IGM Member Ronald Wapner, MD, identified the likely genetic cause of stillbirth in about one of every 10 cases studied.  

“This study shows that careful genetic analyses can often identify the precise genetic causes of stillbirth and demonstrates the importance of diagnostic sequencing in all cases of unexplained stillbirth,” says Goldstein, director of the Institute for Genomic Medicine at Columbia University Irving Medical Center. “Of equal importance, the work highlights how little we currently understand about the biology of stillbirth and the role that genomic analysis can play in helping us understand it.”

The study was published in the New England Journal of Medicine by the Columbia team. Kate Stanley, MS, a research associate in the Goldstein lab, and Jessica Giordano, MS, a research genetic counselor in the reproductive genetics division of the Department of Obstetrics & Gynecology at VP&S, were co-first authors of the study.  An editorial was also published about the significance of the study.