The latest research published in the March issue of Reproductive Biology and Endocrinology found that an alternative DNA test could indicate woman’s miscarriage risk. The test, which offers clinically relevant genetic information to identify why a miscarriage may have occurred in a woman, and study are the first-of-their kind.
Performed by researchers at Montefiore Medical Center and the Albert Einstein College of Medicine of Yeshiva University, researchers collected 20 samples from 17 women. Researchers used a technique known as “rescue karyotyping,” which allows physicians to obtain important genetic information from tissue that had not been tested at the time of a woman’s miscarriage. Because it’s part of standard hospital protocol, tissue from miscarriages is embedded in paraffin for archival use. Researchers were able to perform their study because the karyotyping test is performed on the DNA extracted from the tissues.
Researchers were able successfully test 16 samples from the 20 collected, which had been archived in hospitals for as long as four years. Of the samples, half of the women (so at least eight of them) showed chromosomal variants and abnormalities in their DNA. Zev Williams, author of the study and director of the Program for Early and Recurrent Pregnant Loss (PEARL) at Montefiore and Einstein, said, “Given the ease of obtaining results, even if a delay in testing occurs, this new test may provide a useful technique to gain a better understanding as to why miscarriage occurs in some women. I have seen women in tears because testing was not done at the time of the miscarriage and they feared they would never learn why it happened. Now we are able to go back and often get the answers we need.”
According to the resarch Williams has led on miscarriages, he’s found that recurrent misscariage (defined as two or more miscarriages) affects up to five percent of couples trying to conceive and one-in-five pregnancies ends in miscarriage, with most taking place during the first trimester. His PEARL program includes physicians, scientists, genetic counselors, nurses, technicians and staff members all committed to helping women maintain their pregnancies.
He added, “Montefiore and Einstein have worked together to develop an innovative model based on research, which allows us to create novel diagnostic and treatment options and, in parallel, to quickly bring new advances to the clinic. This represents a new and emerging model in medicine — where the lab and clinic are brought closer in order to speed the pace of discovery and treatment. Most miscarriages are caused by an abnormal number of chromosomes in the embryo, accounting for up to 75 percent of first trimester losses,” he continued. “This new test can help guide future treatment options but, more importantly, can also help alleviate some of the guilt and self-blame often associated with unexplained miscarriage and can close a door on a painful chapter in a woman’s and couple’s life.”
Would you want to know your miscarriage risk?