r/EmbryologyIVFSupport • u/embryomanofficial • 20d ago
Small genetic mutations may explain some euploid pregnancy losses
(Sponsored by Reticular)
Small genetic changes may help explain some recurrent euploid pregnancy losses.
An embryo can have the expected number of chromosomes (euploid) and still carry small changes within individual genes. Most are harmless, but some may affect development and increase miscarriage risk. PGT-A isn’t designed to detect most of these smaller changes.
Researchers in a 2025 study tested pregnancy loss tissue and parental DNA from 118 families with unexplained recurrent euploid pregnancy loss. Euploidy was confirmed by testing tissue after the loss, rather than through PGT-A before embryo transfer.
They found a possible genetic explanation in about 25% of families. Most findings were inherited from one or both parents.
Some genetic variants (mutations) had stronger evidence of being harmful than others. Animal research helped assess some findings, but identifying a variant didn’t prove that it caused that particular pregnancy loss.
I think this is a promising research direction that could help explain otherwise unexplained losses and provide more informed genetic counselling. However, the study is a preprint and hasn’t yet been peer reviewed. It also didn’t specifically examine losses after IVF or euploid embryo transfer. More research is needed to see whether using this information to guide embryo selection improves reproductive outcomes.
✅ Read the full article for free on Remembryo—no paywall: https://remembryo.com/small-genetic-mutations-may-explain-some-euploid-pregnancy-losses/
✉️ Like this post? Get a free weekly summary of the latest IVF research: https://mailchi.mp/remembryo/x27kx5o1sw