Origins and mechanisms leading to aneuploidy in human eggs

The gain or loss of a chromosome-or aneuploidy-acts as one of the major triggers for infertility and pregnancy loss in humans. These chromosomal abnormalities affect more than 40% of eggs in women at both ends of the age spectrum, that is, young girls as well as women of advancing maternal age. Recent studies in human oocytes and embryos using genomics, cytogenetics, and in silico modeling all provide new insight into the rates and potential genetic and cellular factors associated with aneuploidy at varying stages of development. Here, we review recent studies that are shedding light on potential molecular mechanisms of chromosome missegregation in oocytes and embryos across the entire female reproductive life span.

Automated summary

The gain or loss of a chromosome, known as aneuploidy, is a major trigger for infertility and pregnancy loss in humans. Recent studies using genomics, cytogenetics, and in silico modeling have shed new light on the potential genetic and cellular factors associated with aneuploidy at different stages of development in human oocytes and embryos.