Could Stillbirth Be Linked To Gene Mutation? New Study Finds Possible Connection

Scientists studying the causes of stillbirth are close to understanding the link between pregnancy loss and gene mutations.

Stillbirth is the death of the unborn infant after 20 weeks of gestation. The researchers used genetic analyses to pinpoint gene mutations that they suspect are related to stillbirth. Their findings may help doctors on what advice to give parents who have experienced a stillbirth, US News & World Report revealed.

A team of researchers headed by David Goldstein and Dr. Ronald Wapner of Columbia University Vagelos College of Physicians and Surgeons found the possible genetic causes in around one in every 10 cases of stillbirth they examined.

"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," said Goldstein.

He added their discovery also helped them understand more about stillbirth biology and the role that genomic analysis plays. The researchers published findings of their study Wednesday in the New England Journal of Medicine.

Researchers said stillbirths happen once in every 100 pregnancies. It is also 10 times more common compared to sudden infant death syndrome. In many of the cases, doctors cannot pinpoint with certainty as to what causes stillbirth, though there are instances when preeclampsia and infections play a role. Around 20% are linked to chromosome abnormalities.

In a university news release that discussed their findings, Goldstein stated unlike postnatal conditions with strong links to genetic mutations, they still need to analyze stillbirth systematically with modern genome sequencing methods. Wapner said physicians usually do not have any explanation that they can tell parents who experienced this type of pregnancy loss. “Not only are they devastated, but they're also often left to wonder if it's something they did wrong or if it might happen again,” the study’s co-author said.

For their research, the team sequenced genes taken from 246 stillborn fetuses and used modern statistical analyses to pinpoint key mutations. The researchers discovered minuscule changes in 13 genes that led to fetal death, six of which were not previously linked to stillbirth.

Goldstein said while only a single site in the genome exhibited these tiny changes, they can create dramatic changes or even eliminate important genes. "Interestingly, some of the changes we found in genes known to cause postnatal diseases and conditions appeared to have more profound effects than the mutations linked to postnatal disease," he said.