Current quantitative methodologies for pre-implantation genetic testing frequently misclassify meiotic aneuploidies as mosaic
DOI:10.1016/j.fertnstert.2025.02.018 by Fertility and Sterility in 2025
[2572]
Key Points
see Q&A
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Mammalian preimplantation embryos often contain chromosomal defects that arose in the first divisions after fertilization and affect a subpopulation of cells — an event known as mosaic aneuploidy.
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Mosaic aneuploidy occurred in at least 80% of human blastocyst-stage embryos, with often less than 20% of cells showing defects
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A common feature of mammalian preimplantation embryos is the presence of aneuploidy, in which cells gain or lose entire chromosomes or chromosome fragments, or exhibit chromosomes with structural rearrangements
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Many human embryos exhibit a second type of chromosomal abnormality called mosaic aneuploidy. In this event, embryos contain a mixture of euploid cells and aneuploid cells containing errors presumed to occur after fertilization
Recent Publications
Current quantitative methodologies for pre-implantation genetic testing frequently misclassify meiotic aneuploidies as mosaic
DOI:10.1016/j.fertnstert.2025.02.018 by Fertility and Sterility in 2025
[2572]
Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study
DOI:10.22074/ijfs.2024.2018140.1592 by International Journal of Fertility & Sterility in 2025
[2527]
Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts
DOI:10.1172/JCI174483 by Journal of Clinical Investigation in 2024
[2415]
Single-cell sequencing shows mosaic aneuploidy in most human embryos
DOI:10.1172/JCI179134 by Journal of Clinical Investigation in 2024
