This Test May Help Find the Cause of Many Miscarriages
“We had one couple who had a very sick child who was born, and then they had two other losses all with very unusual anomalies,” Williams told Healthline. “All the testing came back normal. We did a whole exome sequencing and discovered a very novel mutation that she and her partner carry, the thirteenth case in the world of it, and now we could screen their embryos to make sure they don’t have another affected child.”
Besides genetic testing on the parents, it’s important to test embryos or products of conception for chromosomal abnormalities as well.
“If the miscarriage sample is normal, then it’s unlikely that the parents have some abnormality that’s causing them to have a chromosomally normal miscarriage,” Williams explained.
For women who have miscarriages as a result of abnormal embryos, in vitro fertilization (IVF) may be an option.
Although it’s an expensive and lengthy process, it does help try to eliminate unhealthy embryos for the best chances of a pregnancy.
The woman or the couple will go through the IVF process to produce embryos, and those embryos are screened to ensure they don’t have any abnormalities, such as missing or extra chromosomes. The abnormal embryos are discarded and only the healthy unaffected ones will remain to be put back into the uterus.
“The knowledge about whether a woman carries a genetic mutation that would predispose her to recurrent miscarriages would be powerful,” Katz-Jaffe says to Healthline, “and [would] allow her to make informed decisions regarding her reproductive options.”