#USA #Reykjavik #deCODE genetics #pregnancy loss #mutations

Groundbreaking Study on Pregnancy Loss Due to Mutations

A pioneering study published today in Nature titled “Sequence diversity lost in early pregnancy” unveils disturbing insights into the genetic factors behind pregnancy loss. Conducted by scientists at deCODE genetics, a subsidiary of Amgen, the research estimates that as many as one out of every 136 pregnancies experiences loss due to newly arising mutations in the fetus. This statistic suggests that millions of pregnancies could be lost globally every year due to these genetic issues.

The human genome, comprising unique sequences that vary from person to person, presents regions characterized by minimal sequence variability. This raised a critical question among researchers: Are these conserved sequences vital for human development? Although it is acknowledged that mutations in these essential genomic areas can significantly contribute to neurodevelopmental disorders, this study aims to establish if they also play a role in pregnancy loss.

In collaboration with Nordic researchers, the team at deCODE genetics analyzed genetic data from 467 samples of pregnancy losses sourced through a prospective study initiated by Henriette Svarre Nielsen and Eva R. Hoffmann. The results revealed that the fetuses from these pregnancy losses displayed a comparable quantity of new mutations to adult genomes. “Despite the similar counts,” explains Hákon Jónsson, a scientist at deCODE genetics and co-author of the paper, “the critical distinction we identified is that the mutations in the fetuses predominantly occurred within essential genomic sequences.”

The researchers further pinpointed the stage during fetal development when certain mutations arose. Aside from mapping these novel mutations, they discovered that certain couples might face higher risks of pregnancy loss due to genetic compatibility challenges. Typically, individuals inherit one copy of a gene from each parent, and having one defective copy often doesn't cause issues. However, problems arise when both parents pass on a defective copy, which can lead to considerable risks. “We’ve previously established that in specific genes, two defective copies are never present in adult genomes. Nevertheless, we found instances of this in some pregnancy losses,” states Guðný A. Árnadóttir, a scientist and co-author of the study. She further highlights the crucial implications for couples looking to start families, noting that identifying these risks can be beneficial in assisted reproductive technologies like IVF.

While mutation generation and recombination are imperative for human evolution, they also yield significant risks associated with rare diseases, including pregnancy loss. This study sheds vital light on the implications of mutations in fetal development and underscores the importance of conserved genomic sequences in the human genome.

Founded in Reykjavik, Iceland, deCODE genetics holds a prestigious reputation for its efforts in analyzing and interpreting the human genome. Their specialized expertise, along with access to unique population resources, has facilitated the discovery of numerous genetic risk factors associated with various prevalent diseases. The ultimate objective is clear: to leverage genetic knowledge to develop innovative methods for disease diagnosis, treatment, and prevention. As comprehensively outlined by this new research, understanding the role of genetic mutations in pregnancy loss is a crucial step in advancing reproductive health and outcomes.