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Chromosome biology

Advances of aneuploidy research in the maternal germline

Nature Reviews Genetics volume 24, page 274 (2023)Cite this article

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During human pregnancy, a large proportion of zygotes do not mature into blastocysts, and many that form blastocysts do not implant. Studies of pregnancies with a clinical diagnosis, usually achieved around 4 weeks after conception (about 6 weeks in the postmenstrual period), show that circa 10–15% will end in spontaneous pregnancy loss before the end of the first trimester. In the past, it was erroneously believed that the causes of spontaneous pregnancy loss were maternal, anatomical, endocrinological or due to infections. But it is now well established that the most frequent cause is genetic, more specifically cytogenetic, because of fetal chromosomal abnormalities. Chromosomal anomalies are diagnosed in more than 60% of first-trimester miscarriage samples that are tested. Spontaneous pregnancy loss thus constitutes the most common ‘genetic disease’ of humans.

Errors can occur during meiotic chromosome segregation that result in gametes with extra or missing chromosomes, leading to trisomy or monosomy, respectively, upon fertilization; the presence of an abnormal number of chromosomes is also known as aneuploidy. Advanced maternal age is the trait that correlates the most with fetal chromosomal abnormalities, specifically the autosomal trisomies, such as trisomy 21. Multiple studies suggest that the rate of aneuploidy is chromosome-specific. Cytogenetic analyses of preimplantation embryos show that most abnormal segregation events occur during the first meiotic division. The reported rates of aneuploidies in the first and the second meiotic divisions vary, and maternal age plays a role. Errors in the first segregation increase with age, but those of the second meiotic division seem to be less affected by it.

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  • Gruhn, J. R. & Hoffman, E. R. Errors of the egg: the establishment and progress of human aneuploid research in the maternal germline. Ann. Rev. Genet. 56, 369–390 (2022)

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  1. Department of Biochemistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    Sergio D. J. Pena

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  1. Sergio D. J. Pena
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Correspondence to Sergio D. J. Pena.

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Pena, S.D.J. Advances of aneuploidy research in the maternal germline. Nat Rev Genet 24, 274 (2023). https://doi.org/10.1038/s41576-022-00573-7

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  • DOI: https://doi.org/10.1038/s41576-022-00573-7

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