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Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development

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Abstract

Aneuploidy is one of the main causes of miscarriage and in vitro fertilization failure. Mitotic abnormalities in preimplantation embryos are the main cause of mosaicism, which may be influenced by several endogenous factors such as relaxation of cell cycle control mechanisms, defects in chromosome cohesion, centrosome aberrations and abnormal spindle assembly, and DNA replication stress. In addition, incomplete trisomy rescue is a rare cause of mosaicism. However, there may be a self-correcting mechanism in mosaic embryos, which allows some mosaicisms to potentially develop into normal embryos. At present, it is difficult to accurately diagnose mosaicism using preimplantation genetic testing for aneuploidy. Therefore, in clinical practice, embryos diagnosed as mosaic should be considered comprehensively based on the specific situation of the patient.

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Authors and Affiliations

  1. Department of Reproductive Medicine, The First Affiliated Hospital, Xi’an Jiaotong University of Medical School, Xi’an, 710061, Shanxi, P.R. China

    Xue Zhang & Peng-Sheng Zheng

  2. Section of Cancer Stem Cell Research, Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education of People’s Republic of China, Xi’an, 710061, Shanxi, P.R. China

    Peng-Sheng Zheng

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  1. Xue Zhang
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X.Z. drafted the manuscript and drew the figures. P.-S.Z. critically revised the article.

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Zhang, X., Zheng, PS. Mechanism of chromosomal mosaicism in preimplantation embryos and its effect on embryo development. J Assist Reprod Genet (2024). https://doi.org/10.1007/s10815-024-03048-2

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