title: Prediction model for aneuploidy in early human embryo development revealed by single-cell analysis.
abstract: Aneuploidies are prevalent in the human embryo and impair proper development, leading to cell cycle arrest. Recent advances in imaging and molecular and genetic analyses are postulated as promising strategies to unveil the mechanisms involved in aneuploidy generation. Here we combine time-lapse, complete chromosomal assessment and single-cell RT-qPCR to simultaneously obtain information from all cells that compose a human embryo until the approximately eight-cell stage (n=85). Our data indicate that the chromosomal status of aneuploid embryos (n=26), including those that are mosaic (n=3), correlates with significant differences in the duration of the first mitotic phase when compared with euploid embryos (n=28). Moreover, gene expression profiling suggests that a subset of genes is differentially expressed in aneuploid embryos during the first 30 h of development. Thus, we propose that the chromosomal fate of an embryo is likely determined as early as the pronuclear stage and may be predicted by a 12-gene transcriptomic signature.
authors.affiliation: 1] Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA. [2] Department of Obstetrics and Gynecology, Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA. [3] IGenomix, Parc Cientific Universitat de Valencia, Catedratico Agustin Escardino 9, Paterna 46980, Valencia, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Vera-Rodriguez
authors.affiliation: 1] Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA. [2] Department of Obstetrics and Gynecology, Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA.
authors.forename: Shawn L
authors.initials: SL
authors.lastname: Chavez
authors.affiliation: 1] IGenomix, Parc Cientific Universitat de Valencia, Catedratico Agustin Escardino 9, Paterna 46980, Valencia, Spain. [2] Department of Obstetrics and Gynecology, Fundación Instituto Valenciano de Infertilidad, University of Valencia, INCLIVA Health Research Institute, Paterna 46980, Valencia, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Rubio
authors.affiliation: 1] Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA. [2] Department of Obstetrics and Gynecology, Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA.
authors.forename: Renee A
authors.initials: RA
authors.lastname: Reijo Pera
authors.affiliation: 1] Department of Obstetrics and Gynecology, Institute for Stem Cell Biology and Regenerative Medicine, Center for Reproductive and Stem Cell Biology, Stanford, California 94305, USA. [2] IGenomix, Parc Cientific Universitat de Valencia, Catedratico Agustin Escardino 9, Paterna 46980, Valencia, Spain. [3] Department of Obstetrics and Gynecology, Fundación Instituto Valenciano de Infertilidad, University of Valencia, INCLIVA Health Research Institute, Paterna 46980, Valencia, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Simon
mesh_terms: D000782:Aneuploidy; D002454:Cell Differentiation / Q000235:genetics; D049109:Cell Proliferation; D020869:Gene Expression Profiling; D018507:Gene Expression Regulation, Developmental; D005820:Genetic Testing; D006801:Humans; D008954:Models, Biological