Origins and mechanisms leading to aneuploidy in human eggs

Lena Wartosch, Karen Schindler, Melina Schuh, Jennifer R. Gruhn, Eva R. Hoffmann, Rajiv C. McCoy, Jinchuan Xing

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)620-630
Number of pages11
JournalPrenatal Diagnosis
Issue number5
StatePublished - Apr 2021

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology
  • Genetics(clinical)


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