Reacción a "A large study finds genetic variants associated with pregnancy loss"

This paper by Carioscia and colleagues focuses on the study of embryonic aneuploidy, i.e. embryos with an abnormal number of chromosomes, which is estimated to be the reason why up to half of all human conceptions fail to develop to term.

While it is well established that aneuploidy is related to the crossover between homologous chromosomes during the first meiotic division, which occurs when the eggs are still in the ovary, this study deepens our understanding of the relationship between DNA variations and aneuploidy.

In this very extensive and well conducted study, the authors sequenced the DNA of 139.416 embryos which were generated by 22.850 couples during their fertility treatment. The DNA of embryos is often analyzed during in vitro fertilization treatments, and this study has deepened the analysis of the same material further.

By looking at the naturally occurring variations in DNA sequence in both embryos and parents, the authors have been able to link specific inherited DNA sequences with the likelihood of an embryo to be aneuploid. In doing so, they have uncovered the relationship between sequence variants and genes involved in DNA recombination and occurrence of aneuploidy to a level of detail previously not achieved.

While their discoveries do not yet offer practical solutions for IVF patients, this work constitutes an important contribution to our understanding of the biology of aneuploidy and of human development.