Common Gene Variant May Raise Miscarriage Risk, Study Finds

According to US news, scientists have found a common gene variant that may be responsible for a link between both early pregnancy loss and failed attempts at in vitro fertilization. This is caused by a variant in a female’s genome. There is an error in the replication process, which has ties with aneuploidy. This means that there are an abnormal number of chromosomes in a cell.

Normally human cells have 46 chromosomes, 23 pairs. Aneuploidy happens when the chromosomes distribute unevenly, which has major effects on pregnancy loss. According to Rajiv McCoy, “early in human development, this (cell replication) process is particularly error-prone, affecting as many as 75 percent of embryos and often causing pregnancy loss as soon as five days after fertilization—before the mother even knows she is pregnant.”

This test was preformed using 46,000 embryos from 2,400 in vitro fertilization patients. It was found that the gene known as rs2305957 has a strong association with the risk of aneuploidy, also age was a factor. The results showed that approximately half of the women had the genetic variant. It is suspected that PLK4, which is located nearby the rs2305957 gene and is responsible for the distribution of chromosomes as cells divide, could possibly be involved with the cause of aneuploidy.

I found this article to be very interesting. I know many women who have tried in vitro fertilization that had failed. It is interesting to now possibly know the reasons for the failure. I think further research is still required.