Chromosomes in early human embryo development: Incidence of chromosomal abnormalities, underlying mechanisms and consequences for development

Textbook of Human Reproductive Genetics

Volumn , Issue , 2014, Pages 52-67

  Baart, Esther B ^a   Van Opstal, Diane ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84923606262     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9781139236027.005     Document Type: Chapter

References (29)

1. Nagaoka SI, Hassold TJ, Hunt PA. Human aneuploidy: mechanisms and new insights into an age-old problem. Nat Rev Genet 2012; 13: 493–504.
2. Mantzouratou A, Delhanty JD. Aneuploidy in the human cleavage stage embryo. Cytogenet Genome Res 2011; 133: 141–8.
3. van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B et al. Chromosomal mosaicism in human preimplantation embryos: a systematic review. Human Reprod Update 2011; 17: 620–7.
4. Capalbo A, Bono S, Spizzichino L et al. Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development. Hum Reprod 2013; 28: 509–18.
5. Santos MA, Teklenburg G, Macklon NS et al. The fate of the mosaic embryo: chromosomal constitution and development of Day 4, 5 and 8 human embryos. Hum Reprod 2010; 25: 1916–26.
6. Kops GJ, Weaver BA, Cleveland DW. On the road to cancer: aneuploidy and the mitotic checkpoint. Nat Rev Cancer 2005; 5: 773–85.
7. Mantikou E, Wong KM, Repping S etal. Molecular origin of mitotic aneuploidies in preimplantation embryos. Biochim Biophys Acta 2012; 1822: 1921–30.
8. Mertzanidou A, Spits C, Nguyen HT et al. Evolution of aneuploidy up to Day 4 of human preimplantation development. Hum Reprod 2013; 28: 1716–24.
9. Vassena R, Boue S, Gonzalez-Roca E et al. Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development. Development 2011; 138: 3699–709.
10. Schatten H, Sun QY. New insights into the role of centrosomes in mammalian fertilization and implications for ART. Reproduction 2011; 142: 793–801.
11. Avo Santos M, van de Werken C, de Vries M et al. A role for Aurora C in the chromosomal passenger complex during human preimplantation embryo development. Human Reprod 2011; 26: 1868–81.
12. Dupont C, Harvey AJ, Armant DR et al. Expression profiles of cohesins, shugoshins and spindle assembly checkpoint genes in rhesus macaque oocytes predict their susceptibility for aneuploidy during embryonic development. Cell Cycle 2012; 11: 740–8.
13. Lampson MA, Cheeseman IM. Sensing centromere tension: Aurora B and the regulation of kinetochore function. Trends Cell Biol 2011; 21: 133–40.
14. Fadloun A, Eid A, Torres-Padilla ME. Mechanisms and dynamics of heterochromatin formation during mammalian development: closed paths and open questions. Curr Top Dev Biol 2013; 104: 1–45.
15. Fragouli E, Wells D. Aneuploidy screening for embryo selection. Semin Reprod Med 2012; 30: 289–301.
16. van den Berg C, Van Opstal D, Polak-Knook J et al. (Potential) false-negative diagnoses in chorionic villi and a review of the literature. Prenat Diagn 2006; 26: 401–8.
17. Bianchi DW, Wilkins-Haug LE, Enders AC et al. Origin of extraembryonic mesoderm in experimental animals: relevance to chorionic mosaicism in humans. Am J Med Genet 1993; 46: 542–50.
18. Pittalis MC, Dalpra L, Torricelli F et al. The predictive value of cytogenetic diagnosis ater CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 1994; 14: 267–78.
19. Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 1996; 16: 511–24.
20. Van Opstal D, Van den Berg C, Deelen WH et al. Prospective prenatal investigations on potential uniparental disomy in cases of conined placental trisomy. Prenat Diagn 1998; 18: 35–44.
21. Hsu LY, Perlis TE. United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 1984; 4: 97–130.
22. Jacod BC, Lichtenbelt KD, Schuring-Blom GH et al. Does confined placental mosaicism account for adverse perinatal outcomes in IVF pregnancies? Hum Reprod 2008; 23: 1107–12.
23. van den Berg MM, van Maarle MC, van Wely M et al. Genetics of early miscarriage. Biochim Biophys Acta 2012; 1822: 1951–9.
24. Lebedev I. Mosaic aneuploidy in early fetal losses. Cytogenet Genome Res 2011; 133: 169–83.
25. Scott SA, Cohen N, Brandt T et al. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 2010; 12: 85–92.
26. Conlin LK, Thiel BD, Bonnemann CG et al. Mechanisms of mosaicism, chimerism and uniparental disomy identiied by single nucleotide polymorphism array analysis. Hum Mol Genet 2010; 19: 1263–75.
27. Li G, Liu Y, He NN et al. Molecular karyotype single nucleotide polymorphism analysis of early fetal demise. Syst Biol Reprod Med 2013; 59: 227–31.
28. Kalousek DK, Barrett IJ, Gartner AB. Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 1992; 88: 642–6.
29. Devalle S, Sartore RC, Paulsen BS et al. Implications of aneuploidy for stem cell biology and brain therapeutics. Front Cell Neurosci 2012; 6: 36.