Magli, M. C. et al. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum. Reprod. 15, 1781–1786 (2000).
Mantikou, E., Wong, K. M., Repping, S. & Mastenbroek, S. Molecular origin of mitotic aneuploidies in preimplantation embryos. Biochim. Biophys. Acta 1822, 1921–1930 (2012).
van Echten-Arends, J. et al. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Hum. Reprod. Update 17, 620–627 (2011).
Vanneste, E. et al. Chromosome instability is common in human cleavage-stage embryos. Nat. Med. 15, 577–583 (2009).
Sandalinas, M. et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum. Reprod. 16, 1954–1958 (2001).
Goddijn, M. & Leschot, N. J. Genetic aspects of miscarriage. Baillieres Best Pract. Res. Clin. Obstet. Gynaecol. 14, 855–865 (2000).
Rubio, C. et al. Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum. Reprod. 18, 182–188 (2003).
Kalousek, D. K. & Dill, F. J. Chromosomal mosaicism confined to the placenta in human conceptions. Science 221, 665–667 (1983).
Starostik, M. R., Sosina, O. A. & McCoy, R. C. Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism. Genome Res. 30, 814–825 (2020).
Kasak, L., Rull, K., Vaas, P., Teesalu, P. & Laan, M. Extensive load of somatic CNVs in the human placenta. Sci. Rep. 5, 8342 (2015).
Mertzanidou, A. et al. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum. Reprod. 28, 256–264 (2013).
Fragouli, E. et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum. Reprod. 26, 480–490 (2011).
Spinella, F. et al. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil. Steril. 109, 77–83 (2018).
Handyside, A. H et al. Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos. Preprint at bioRxiv https://doi.org/10.1101/2024.11.17.623999 (2024).
Chavli, E. A. et al. Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts. J. Clin. Invest. 134, e174483 (2024).
McDole, K. & Zheng, Y. Generation and live imaging of an endogenous Cdx2 reporter mouse line. Genesis 50, 775–782 (2012).
Domingo-Muelas, A. et al. Human embryo live imaging reveals nuclear DNA shedding during blastocyst expansion and biopsy. Cell 186, 3166–3181 (2023).
Rajendraprasad, G., Rodriguez-Calado, S. & Barisic, M. SiR-DNA/SiR-Hoechst-induced chromosome entanglement generates severe anaphase bridges and DNA damage. Life Sci. Alliance 6, e202302260 (2023).
Currie, C. E. et al. The first mitotic division of human embryos is highly error prone. Nat. Commun. 13, 6755 (2022).
Sen, O., Saurin, A. T. & Higgins, J. M. G. The live cell DNA stain SiR-Hoechst induces DNA damage responses and impairs cell cycle progression. Sci. Rep. 8, 7898 (2018).
Strnad, P. et al. Inverted light-sheet microscope for imaging mouse pre-implantation development. Nat. Methods 13, 139–142 (2016).
Huisken, J., Swoger, J., Del Bene, F., Wittbrodt, J. & Stelzer, E. H. Optical sectioning deep inside live embryos by selective plane illumination microscopy. Science 305, 1007–1009 (2004).
Rayon, T. Cell time: how cells control developmental timetables. Sci. Adv. 9, eadh1849 (2023).
Sinha, D., Duijf, P. H. G. & Khanna, K. K. Mitotic slippage: an old tale with a new twist. Cell Cycle 18, 7–15 (2019).
Rieder, C. L. & Maiato, H. Stuck in division or passing through: what happens when cells cannot satisfy the spindle assembly checkpoint. Dev. Cell 7, 637–651 (2004).
Rieder, C. L. Mitosis in vertebrates: the G2/M and M/A transitions and their associated checkpoints. Chromosome Res. 19, 291–306 (2011).
Fragouli, E. et al. The origin and impact of embryonic aneuploidy. Hum. Genet. 132, 1001–1013 (2013).
Vazquez-Diez, C., Yamagata, K., Trivedi, S., Haverfield, J. & FitzHarris, G. Micronucleus formation causes perpetual unilateral chromosome inheritance in mouse embryos. Proc. Natl Acad. Sci. USA 113, 626–631 (2016).
De Paepe, C. et al. Human trophectoderm cells are not yet committed. Hum. Reprod. 28, 740–749 (2013).
Tarkowski, A. K., Suwinska, A., Czolowska, R. & Ozdzenski, W. Individual blastomeres of 16- and 32-cell mouse embryos are able to develop into foetuses and mice. Dev. Biol. 348, 190–198 (2010).
Posfai, E. et al. Position- and Hippo signaling-dependent plasticity during lineage segregation in the early mouse embryo. eLife 6, e22906 (2017).
Lorthongpanich, C., Doris, T. P., Limviphuvadh, V., Knowles, B. B. & Solter, D. Developmental fate and lineage commitment of singled mouse blastomeres. Development 139, 3722–3731 (2012).
Korotkevich, E. et al. The apical domain is required and sufficient for the first lineage segregation in the mouse embryo. Dev. Cell 40, 235–247 (2017).
Maiato, H. & Logarinho, E. Mitotic spindle multipolarity without centrosome amplification. Nat. Cell Biol. 16, 386–394 (2014).
Chatzimeletiou, K. et al. Cytoskeletal analysis of human blastocysts by confocal laser scanning microscopy following vitrification. Hum. Reprod. 27, 106–113 (2012).
Van Royen, E. et al. Multinucleation in cleavage stage embryos. Hum. Reprod. 18, 1062–1069 (2003).
Corujo-Simon, E. et al. Human trophectoderm becomes multi-layered by internalization at the polar region. Dev. Cell 59, 2497–2505 (2024).
Zielke, N. & Edgar, B. A. FUCCI sensors: powerful new tools for analysis of cell proliferation. Wiley Interdiscip. Rev. Dev. Biol. 4, 469–487 (2015).
Kwon, M. et al. Mechanisms to suppress multipolar divisions in cancer cells with extra centrosomes. Genes Dev. 22, 2189–2203 (2008).
Fox, D. T. & Duronio, R. J. Endoreplication and polyploidy: insights into development and disease. Development 140, 3–12 (2013).
Sher, N. et al. Fundamental differences in endoreplication in mammals and Drosophila revealed by analysis of endocycling and endomitotic cells. Proc. Natl Acad. Sci. USA 110, 9368–9373 (2013).
Gardner, R. L. & Davies, T. J. Lack of coupling between onset of giant transformation and genome endoreduplication in the mural trophectoderm of the mouse blastocyst. J. Exp. Zool. 265, 54–60 (1993).
Crasta, K. et al. DNA breaks and chromosome pulverization from errors in mitosis. Nature 482, 53–58 (2012).
Ly, P. et al. Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining. Nat. Cell Biol. 19, 68–75 (2017).
Thompson, S. L. & Compton, D. A. Proliferation of aneuploid human cells is limited by a p53-dependent mechanism. J. Cell Biol. 188, 369–381 (2010).
Santaguida, S. et al. Chromosome mis-segregation generates cell-cycle-arrested cells with complex karyotypes that are eliminated by the immune system. Dev. Cell 41, 638–651 (2017).
Kruiswijk, F., Labuschagne, C. F. & Vousden, K. H. p53 in survival, death and metabolic health: a lifeguard with a licence to kill. Nat. Rev. Mol. Cell Biol. 16, 393–405 (2015).
Mackenzie, K. J. et al. cGAS surveillance of micronuclei links genome instability to innate immunity. Nature 548, 461–465 (2017).
Song, J. X., Villagomes, D., Zhao, H. & Zhu, M. cGAS in nucleus: the link between immune response and DNA damage repair. Front. Immunol. 13, 1076784 (2022).
Popovic, M. et al. Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing? Hum. Reprod. 33, 1342–1354 (2018).
Gerri, C. et al. Initiation of a conserved trophectoderm program in human, cow and mouse embryos. Nature 587, 443–447 (2020).
Zhu, M. et al. Human embryo polarization requires PLC signaling to mediate trophectoderm specification. eLife 10, e65068 (2021).
Rossant, J. & Lis, W. T. Potential of isolated mouse inner cell masses to form trophectoderm derivatives in vivo. Dev. Biol. 70, 255–261 (1979).
Stephenson, R. O., Yamanaka, Y. & Rossant, J. Disorganized epithelial polarity and excess trophectoderm cell fate in preimplantation embryos lacking E-cadherin. Development 137, 3383–3391 (2010).
Suwinska, A., Czolowska, R., Ozdzenski, W. & Tarkowski, A. K. Blastomeres of the mouse embryo lose totipotency after the fifth cleavage division: expression of Cdx2 and Oct4 and developmental potential of inner and outer blastomeres of 16- and 32-cell embryos. Dev. Biol. 322, 133–144 (2008).
Berg, D. K. et al. Trophectoderm lineage determination in cattle. Dev. Cell 20, 244–255 (2011).
Mandal, P. K. & Rossi, D. J. Reprogramming human fibroblasts to pluripotency using modified mRNA. Nat. Protoc. 8, 568–582 (2013).
Weigert, M., Schmidt, U., Haase, R., Sugawara, K. & Myers, G. Star-convex polyhedra for 3D object detection and segmentation in microscopy. In IEEE Winter Conference on Applications of Computer Vision (WACV) 3655–3662 (IEEE, 2020).
Corujo-Simon, E. et al. Mechanisms to prepare human polar trophectoderm for blastocyst implantation. Dev. Cell 59, 2497–2505.e4 (2024).
Regin, M. et al. Lineage segregation in human pre-implantation embryos is specified by YAP1 and TEAD1. Hum. Reprod. 38, 1484–1498 (2023).
Junyent, S. et al. The first two blastomeres contribute unequally to the human embryo. Cell 187, 2838–2854 (2024).
Bucevicius, J., Keller-Findeisen, J., Gilat, T., Hell, S. W. & Lukinavicius, G. Rhodamine–Hoechst positional isomers for highly efficient staining of heterochromatin. Chem. Sci. 10, 1962–1970 (2019).
Moos, F. et al. Open-top multisample dual-view light-sheet microscope for live imaging of large multicellular systems. Nat. Methods 21, 798–803 (2024).
Delon, J. & Desolneux, A. A Wasserstein-type distance in the space of Gaussian mixture models. SIAM J. Imaging Sci. 13, 936–970 (2020).
Toader, B. et al. Image reconstruction in light-sheet microscopy: spatially varying deconvolution and mixed noise. J. Math. Imaging Vis. 64, 968–992 (2022).
Ershov, D. et al. TrackMate 7: integrating state-of-the-art segmentation algorithms into tracking pipelines. Nat. Methods 19, 829–832 (2022).
Abdelbaki, A. et al. Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors. Zenodo https://doi.org/10.5281/zenodo.16996800 (2025).
Abdelbaki, A. et al. Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors. Zenodo https://doi.org/10.5281/zenodo.16994339 (2025).
