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Developmental potential of aneuploid human embryos cultured beyond implantation

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  • Marta N. Shahbazi

    (Mammalian Embryo and Stem Cell Group, University of Cambridge, Department of Physiology, Development and Neuroscience
    MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus)

  • Tianren Wang

    (Foundation for Embryonic Competence)

  • Xin Tao

    (Foundation for Embryonic Competence)

  • Bailey A. T. Weatherbee

    (Mammalian Embryo and Stem Cell Group, University of Cambridge, Department of Physiology, Development and Neuroscience)

  • Li Sun

    (Foundation for Embryonic Competence)

  • Yiping Zhan

    (Foundation for Embryonic Competence)

  • Laura Keller

    (University of Michigan)

  • Gary D. Smith

    (University of Michigan)

  • Antonio Pellicer

    (University of Valencia, Department of Paediatrics, Obstetrics and Gynaecology
    IVIRMA Roma)

  • Richard T. Scott

    (Rutgers-Robert Wood Johnson Medical School, Department of Obstetrics, Gynaecology and Reproductive Science
    IVIRMA New Jersey)

  • Emre Seli

    (IVIRMA New Jersey
    Yale School of Medicine, Department of Obstetrics, Gynaecology, and Reproductive Sciences)

  • Magdalena Zernicka-Goetz

    (Mammalian Embryo and Stem Cell Group, University of Cambridge, Department of Physiology, Development and Neuroscience
    Division of Biology and Biological Engineering, California Institute of Technology)

Abstract

Aneuploidy, the presence of an abnormal number of chromosomes, is a major cause of early pregnancy loss in humans. Yet, the developmental consequences of specific aneuploidies remain unexplored. Here, we determine the extent of post-implantation development of human embryos bearing common aneuploidies using a recently established culture platform. We show that while trisomy 15 and trisomy 21 embryos develop similarly to euploid embryos, monosomy 21 embryos exhibit high rates of developmental arrest, and trisomy 16 embryos display a hypo-proliferation of the trophoblast, the tissue that forms the placenta. Using human trophoblast stem cells, we show that this phenotype can be mechanistically ascribed to increased levels of the cell adhesion protein E-CADHERIN, which lead to premature differentiation and cell cycle arrest. We identify three cases of mosaicism in embryos diagnosed as full aneuploid by pre-implantation genetic testing. Our results present the first detailed analysis of post-implantation development of aneuploid human embryos.

Suggested Citation

  • Marta N. Shahbazi & Tianren Wang & Xin Tao & Bailey A. T. Weatherbee & Li Sun & Yiping Zhan & Laura Keller & Gary D. Smith & Antonio Pellicer & Richard T. Scott & Emre Seli & Magdalena Zernicka-Goetz, 2020. "Developmental potential of aneuploid human embryos cultured beyond implantation," Nature Communications, Nature, vol. 11(1), pages 1-15, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-17764-7
    DOI: 10.1038/s41467-020-17764-7
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    Cited by:

    1. Denis Torre & Nancy J. Francoeur & Yael Kalma & Ilana Gross Carmel & Betsaida S. Melo & Gintaras Deikus & Kimaada Allette & Ron Flohr & Maya Fridrikh & Konstantinos Vlachos & Kent Madrid & Hardik Shah, 2023. "Isoform-resolved transcriptome of the human preimplantation embryo," Nature Communications, Nature, vol. 14(1), pages 1-23, December.
    2. Akshaya Ramakrishnan & Aikaterini Symeonidi & Patrick Hanel & Katharina T. Schmid & Maria L. Richter & Michael Schubert & Maria Colomé-Tatché, 2023. "epiAneufinder identifies copy number alterations from single-cell ATAC-seq data," Nature Communications, Nature, vol. 14(1), pages 1-10, December.

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