Origins and mechanisms leading to aneuploidy in human eggs. (22nd March 2021)

• Record Type: Journal Article
• Authors: Wartosch, Lena; Schindler, Karen; Schuh, Melina; Gruhn, Jennifer R.; Hoffmann, Eva R.; McCoy, Rajiv C.; Xing, Jinchuan
• Is Part Of: Prenatal diagnosis. Volume 41:Number 5(2021)
• Page Start: 620
• Page End: 630
• Publication Date: 2021-03-22
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5927
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: 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. Key Points: What is known about this topic? Aneuploidy is a major cause of preclinical and prenatal fetal losses and congenital disorders in live born. Aneuploidy is highly dependent upon maternal age, especially advanced maternal age. Aneuploidy is predominantly from the mother. What does this study add? Aneuploidy originates from oocytes and preimplantation embryos. Aneuploidy follows a U curve with female age. New cellular and molecular mechanisms causing aneuploidies are discussed, including modelling approaches.