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Conclusions
• Chromosomal (segmental) aneuploidies are common in cleavage stage embryos
• Aneuploidies originate via meiotic errors, mitotic errors and cell fusions
• Mixoploidy and chimaera’s may originate in the zygote
• Strong selection for chromosomal normal cells during development
• IVF may constitute a risk factor for chromosomal aneuploidies • Culture conditions?....
Suggested reading
Destouni A, Dimitriadou E, Masset H, Debrock S, Melotte C, Van Den Bogaert K, Zamani Esteki M, Ding J, Voet T, Denayer E, de Ravel T, Legius E, Meuleman C, Peeraer K, Vermeesch JR. Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M. Hum Reprod. 2018 Dec 1;33(12):2302-2311. PMID: 30383227;
Voet T, Vermeesch JR. Mutational Processes Shaping the Genome in Early Human Embryos. Cell. 2017 Feb 23;168(5):751-753 PMID: 28235191.
Dimitriadou E, Melotte C, Debrock S, Esteki MZ, Dierickx K, Voet T, Devriendt K, de Ravel T, Legius E, Peeraer K, Meuleman C, Vermeesch JR. Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos. Hum Reprod. 2017 Mar 1;32(3):687-697. PMID:28158716.
Vermeesch JR, Voet T, Devriendt K. Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet. 2016 Sep 15;17(10):643-56. Review. PMID: 27629932.
Destouni A, Zamani Esteki M, Catteeuw M, Tšuiko O, Dimitriadou E, Smits K, Kurg A, Salumets A, Van Soom A, Voet T, Vermeesch JR. Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy. Genome Res. 2016 May;26(5):567-78. 115.. PMID: 27197242
Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E, Moreau Y, Debrock S, D'Hooghe T, Verdyck P, De Rycke M, Sermon K, Vermeesch JR, Voet T. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet. 2015 Jun 4;96(6):894-912. PMID: 25983246.
Voet T, Kumar P, Van Loo P, Cooke SL, Marshall J, Lin ML, Zamani Esteki M, Van der Aa N, Mateiu L, McBride DJ, Bignell GR, McLaren S, Teague J, Butler A, Raine K, Stebbings LA, Quail MA, D'Hooghe T, Moreau Y, Futreal PA, Stratton MR,Vermeesch JR, Campbell PJ. Single-cell paired-end genome sequencing reveals structural variation per cell cycle. Nucleic Acids Res. 2013 Jul;41(12):6119-38. PMID: 23630320
Vanneste E, Van der Aa N, Voet T, Vermeesch JR. Aneuploidy and copy number variation in early human development. Semin Reprod Med. 2012 Aug;30(4):302- 8.. Review. PubMed PMID: 22723011.
Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010 Oct;47(10):651-8. PMID:19858130.
Vanneste E, Voet T, Le Caignec C, Ampe M, Konings P, Melotte C, Debrock S, Amyere M, Vikkula M, Schuit F, Fryns JP, Verbeke G, D'Hooghe T, Moreau Y, Vermeesch JR. Chromosome instability is common in human cleavage-stage embryos. Nat Med. 2009 May;15(5):577-83. PMID: 19396175.
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