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Maternal Age and Oocyte Aneuploidy: Lessons Learned from Trisomy 21

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Biennial Review of Infertility

Abstract

Trisomy 21, the common chromosomal abnormality leading to Down syndrome, has become an important model for human chromosome nondisjunction. Here we review studies of the 90 % of chromosome 21 nondisjunction errors occurring in the oocyte that lead to trisomy 21 and have further separated these maternal cases by type of nondisjunction error: maternal meiosis I (MI) or maternal meiosis II (MII). Given the mechanistic differences and temporal separation of MI and MII, many have hypothesized that the risk factors for MI and MII nondisjunction errors are different. The ability to classify errors by parental and stage of origin of the meiotic event allows analysis of less heterogeneous etiologic-based groups, providing insight into factors associated with nondisjunction. These studies show that maternal age is a dominant risk factor for both MI and MII nondisjunction and all other investigations of nondisjunction risk factors must be carried out in the context of maternal age. Studies of recombination profiles and environmental factors by type of nondisjunction error and by maternal age have begun to suggest important features of meiosis that may be more or less vulnerable to exposures. Although results are not always consistent between studies, they have begun to provide insight into possible modifiable factors.

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Authors and Affiliations

  1. Department of Human Genetics, Emory University School of Medicine, 615 Michael St, Atlanta, GA, 30322, USA

    Stephanie L. Sherman Ph.D., Emily G. Allen Ph.D. & Lora J. H. Bean Ph.D.

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  1. Stephanie L. Sherman Ph.D.
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  2. Emily G. Allen Ph.D.
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  3. Lora J. H. Bean Ph.D.
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Correspondence to Stephanie L. Sherman Ph.D. .

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Editors and Affiliations

  1. Weill Cornell Medical Center, Dept. Urology, New York Presbyterian Hospital, East 68th St. 525, New York, 10021, New York, USA

    Peter N. Schlegel

  2. , Department of Reproductive Medicine, University Medical Center Utrecht, PO Box 85500, Utrecht, 3508 GA, Netherlands

    Bart C. Fauser

  3. S. Arapeen Drive 675, Salt Lake, 84108, Utah, USA

    Douglas T. Carrell

  4. and Infertility, Department of Obstetrics and Gynecology, Division of Reproductive Endocrinlogy, Francis St. 75, Boston, 02115, Massachusetts, USA

    Catherine Racowsky

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Sherman, S.L., Allen, E.G., Bean, L.J.H. (2013). Maternal Age and Oocyte Aneuploidy: Lessons Learned from Trisomy 21. In: Schlegel, P., Fauser, B., Carrell, D., Racowsky, C. (eds) Biennial Review of Infertility. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-7187-5_6

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