Understanding the genetic factors behind early pregnancy loss can lead to improved reproductive health and potential interventions. A recent study reveals that new mutations in the fetus contribute to approximately one in 136 pregnancy losses, highlighting the critical role of genetics in early development.
Scientists at deCODE genetics, in collaboration with Nordic researchers, analyzed 467 samples from pregnancy losses. They compared the genomes of the fetuses to their parents. The study, published in Nature, found that fetuses lost due to pregnancy had a similar number of new mutations as adults.
However, the key difference was that these mutations in the fetuses occurred in essential genomic sequences. According to Hákon Jónsson, a scientist at deCODE genetics, the mutations disrupted vital developmental processes. The researchers were able to identify when these mutations occurred during fetal development.
The study also identified genetic compatibility issues between parents as a risk factor for pregnancy loss. Guðný A. Árnadóttir, another scientist at deCODE genetics, explained that some couples carry two defective copies of certain genes. This can lead to pregnancy loss, but can potentially be addressed through IVF treatments.
While mutations drive evolution, they also contribute to rare diseases and pregnancy loss. This research sheds light on the importance of conserved sequences in the human genome. It offers hope for future interventions to reduce the risk of genetically linked pregnancy loss.