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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
31
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.
32
Mosaic aneuploidy occurred in at least 80% of human blastocyst-stage embryos, with often less than 20% of cells showing defects
34
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
35
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
