The Library
Errors in chromosome segregation during oogenesis and early embryogenesis
Tools
Hultén, Maj A., Smith, Edward M. and Delhanty, Joy D. A. (2010) Errors in chromosome segregation during oogenesis and early embryogenesis. In: Reproductive Endocrinology and Infertility. Springer: Springer Science and Business Media, pp. 325-342. ISBN 9781441914354
|
PDF
WRAP_Smith_Carrell_paper-final-2_291110.pdf - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader Download (746Kb) |
Official URL: http://dx.doi.org/10.1007/978-1-4419-1436-1_20
Abstract
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases. The crucial events, including meiotic chromosome pairing and recombination, take place from around 11 weeks until birth. Oogenesis is then arrested until ovulation, when the first meiotic division takes place, with the second meiotic division not completed until after fertilization. It is generally accepted that most aneuploid fetal conditions, such as trisomy 21 Down syndrome, are due to maternal chromosome segregation errors. The underlying reasons are not yet fully understood. It is also clear that superimposed on the maternal meiotic chromosome segregation errors, there are a large number of mitotic errors taking place post-zygotically during the first few cell divisions in the embryo. In this chapter, we summarise current knowledge of errors in chromosome segregation during oogenesis and early embryogenesis, with special reference to the clinical implications for successful assisted reproduction.
| Item Type: | Book Item |
|---|---|
| Subjects: | Q Science > QH Natural history R Medicine > RG Gynecology and obstetrics |
| Divisions: | Faculty of Science > Life Sciences (2010- ) > Biological Sciences ( -2010) |
| Library of Congress Subject Headings (LCSH): | Oogenesis, Embryology, Human chromosome abnormalities, Meiosis |
| Publisher: | Springer Science and Business Media |
| Place of Publication: | Springer |
| ISBN: | 9781441914354 |
| Book Title: | Reproductive Endocrinology and Infertility |
| Date: | 2010 |
| Volume: | Vol.2 |
| Page Range: | pp. 325-342 |
| Identification Number: | 10.1007/978-1-4419-1436-1_20 |
| Status: | Peer Reviewed |
| Access rights to Published version: | Open Access |
| References: | 1. Bendsen E, Byskov AG, Andersen CY, Westergaard LG. Number of germ cells and somatic cells in human fetal ovaries during the first weeks after sex differentiation. Hum Reprod 2006;21(1):30-5. 2. Barlow AL, Hultén MA. Crossing over analysis at pachytene in man. Eur J Hum Genet 1998;6(4):350-8. 3. Lenzi ML, Smith J, Snowden T, et al. Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis in human oocytes. Am J Hum Genet 2005;76(1):112-27. 4. Tease C, Hartshorne G, Hultén M. Altered patterns of meiotic recombination in human fetal oocytes with asynapsis and/or synaptonemal complex fragmentation at pachytene. Reprod Biomed Online 2006;13(1):88-95. 5. Tease C, Hartshorne GM, Hultén MA. Patterns of meiotic recombination in human fetal oocytes. Am J Hum Genet 2002;70(6):1469-79. 6. Tease C, Hultén MA. Inter-sex variation in synaptonemal complex lengths largely determine the different recombination rates in male and female germ cells. Cytogenet Genome Res 2004;107(3-4):208-15. 7. Yuncken C. Meiosis in the human female. Cytogenetics 1968;7(3):234-8. 8. Hunt PA, Hassold TJ. Human female meiosis: what makes a good egg go bad? Trends Genet 2008;24(2):86-93. 9. Oliver TR, Feingold E, Yu K, et al. New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet 2008;4(3):e1000033. 10. Jones KT. Meiosis in oocytes: predisposition to aneuploidy and its increased incidence with age. Hum Reprod Update 2008;14(2):143-58. 11. Delhanty JD. Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res 2005;111(3-4):237-44. 12. Hultén MA, Patel S, Tankimanova M, et al. On the origin of trisomy 21 Down syndrome. Molecular Cytogenetics 2008;Accepted. 13. Kovaleva NV. Parental mosaicism for trisomy 21: problems with its detection and an approach to determining its population rate. Genet Test 2007;11(3):341-4. 14. Hall HE, Chan ER, Collins A, et al. The origin of trisomy 13. Am J Med Genet A 2007a;143A(19):2242-8. 15. Cupisti S, Conn CM, Fragouli E, et al. Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. Prenat Diagn 2003;23(8):663-8. 16. Dyban A, Freidine M, Severova E, Cieslak J, Ivakhnenko V, Verlinsky Y. Detection of aneuploidy in human oocytes and corresponding first polar bodies by fluorescent in situ hybridization. J Assist Reprod Genet 1996;13(1):73-8. 17. Mahmood R, Brierley CH, Faed MJ, Mills JA, Delhanty JD. Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Hum Genet 2000;106(6):620-6. 18. Pellestor F, Andreo B, Arnal F, Humeau C, Demaille J. Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes. Hum Genet 2003;112(2):195-203. 19. Gras L, McBain J, Trounson A, Kola I. The incidence of chromosomal aneuploidy in stimulated and unstimulated (natural) uninseminated human oocytes. Hum Reprod 1992;7(10):1396-401. 20. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2001;2(4):280-91. 21. Almeida PA, Bolton VN. The relationship between chromosomal abnormalities in the human oocyte and fertilization in vitro. Hum Reprod 1994;9(2):343-6. 22. Pellestor F, Andreo B, Arnal F, Humeau C, Demaille J. Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod 2002;17(8):2134-45. 23. Angell R. First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet 1997;61(1):23-32. 24. Fragouli E, Wells D, Doshi A, Gotts S, Harper JC, Delhanty JD. Complete cytogenetic investigation of oocytes from a young cancer patient with the use of comparative genomic hybridisation reveals meiotic errors. Prenat Diagn 2006a;26(1):71-6. 25. Sandalinas M, Marquez C, Munné S. Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod 2002;8(6):580-5. 26. Kuliev A, Cieslak J, Verlinsky Y. Frequency and distribution of chromosome abnormalities in human oocytes. Cytogenet Genome Res 2005;111(3-4):193-8. 27. Kuliev A, Cieslak J, Ilkevitch Y, Verlinsky Y. Chromosomal abnormalities in a series of 6,733 human oocytes in preimplantation diagnosis for age-related aneuploidies. Reprod Biomed Online 2003;6(1):54-9. 28. Pujol A, Boiso I, Benet J, et al. Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies. Eur J Hum Genet 2003;11(4):325-36. 29. Cozzi J, Conn CM, Harper J, et al. A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception. Hum Genet 1999;104(1):23-8. 30. Fragouli E, Wells D, Thornhill A, et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod 2006c;21(9):2319-28. 31. Fragouli E, Wells D, Whalley KM, Mills JA, Faed MJ, Delhanty JD. Increased susceptibility to maternal aneuploidy demonstrated by comparative genomic hybridization analysis of human MII oocytes and first polar bodies. Cytogenet Genome Res 2006b;114(1):30-8. 32. Gutierrez-Mateo C, Benet J, Wells D, et al. Aneuploidy study of human oocytes first polar body comparative genomic hybridization and metaphase II fluorescence in situ hybridization analysis. Hum Reprod 2004b;19(12):2859-68. 33. Gutierrez-Mateo C, Wells D, Benet J, et al. Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod 2004a;19(9):2118-25. 34. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD, Munné S. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2002;78(3):543-9. 35. Anahory T, Andreo B, Regnier-Vigouroux G, et al. Sequential multiple probe fluorescence in-situ hybridization analysis of human oocytes and polar bodies by combining centromeric labelling and whole chromosome painting. Mol Hum Reprod 2003;9(10):577-85. 36. Munné S, Bahce M, Sandalinas M, et al. Differences in chromosome susceptibility to aneuploidy and survival to first trimester. Reprod Biomed Online 2004;8(1):81-90. 37. Mantzouratou A, Mania A, Fragouli E, et al. Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum Reprod 2007;22(7):1844-53. 38. Delhanty JD, Griffin DK, Handyside AH, et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH). Hum Mol Genet 1993;2(8):1183-5. 39. Delhanty JD, Harper JC, Ao A, Handyside AH, Winston RM. Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997;99(6):755-60. 40. Evsikov S, Verlinsky Y. Mosaicism in the inner cell mass of human blastocysts. Hum Reprod 1998;13(11):3151-5. 41. Munné S, Cohen J. Chromosome abnormalities in human embryos. Hum Reprod Update 1998a;4(6):842-55. 42. Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum Reprod 1993;8(12):2185-91. 43. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000;106(2):210-7. 44. Wells D, Delhanty JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 2000;6(11):1055-62. 45. Conn CM, Harper JC, Winston RM, Delhanty JD. Preimplantation diagnosis for trisomies 13, 14,18 and 21 using multicolour fluorescent in situ hybridisation Am J Hum Genet 1995;57 (Suppl):A1611. 46. Conn CM, Harper JC, Winston RM, Delhanty JD. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998;102(1):117-23. 47. Munné S, Fung J, Cassel MJ, Marquez C, Weier HU. Preimplantation genetic analysis of translocations: case-specific probes for interphase cell analysis. Hum Genet 1998b;102(6):663-74. 48. Iwarsson E, Malmgren H, Inzunza J, et al. Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenat Diagn 2000;20(13):1038-47. 49. Simopoulou M, Harper JC, Fragouli E, et al. Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat Diagn 2003;23(8):652-62. 50. Delhanty JD, Handyside AH. The origin of genetic defects in the human and their detection in the preimplantation embryo. Hum Reprod Update 1995;1(3):201-15. 51. Voullaire L, Wilton L, McBain J, Callaghan T, Williamson R. Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Mol Hum Reprod 2002;8(11):1035-41. 52. Munné S, Bahce M, Schimmel T, Sadowy S, Cohen J. Case report: chromatid exchange and predivision of chromatids as other sources of abnormal oocytes detected by preimplantation genetic diagnosis of translocations. Prenat Diagn 1998c;18(13):1450-8. 53. Gianaroli L, Magli MC, Ferraretti AP, Fiorentino A, Garrisi J, Munné S. Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil Steril 1997;68(6):1128-31. 54. Munné S. Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation heterozygotes. Cytogenet Genome Res 2005;111(3-4):305-9. 55. Munné S, Fischer J, Warner A, Chen S, Zouves C, Cohen J. Preimplantation genetic diagnosis significantly reduces pregnancy loss in infertile couples: a multicenter study. Fertil Steril 2006;85(2):326-32. 56. Munné S, Magli C, Cohen J, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999;14(9):2191-9. 57. Verlinsky Y, Tur-Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor-prognosis patients. Reprod Biomed Online 2005;11(2):219-25. 58. Platteau P, Staessen C, Michiels A, Van Steirteghem A, Liebaers I, Devroey P. Preimplantation genetic diagnosis for aneuploidy screening in women older than 37 years. Fertil Steril 2005;84(2):319-24. 59. Mastenbroek S, Twisk M, van Echten-Arends J, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med 2007;357(1):9-17. 60. Cohen J, Grifo JA. Multicentre trial of preimplantation genetic screening reported in the New England Journal of Medicine: an in-depth look at the findings. Reprod Biomed Online 2007;15(4):365-6. 61. Staessen C, Platteau P, Van Assche E, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod 2004;19(12):2849-58. 62. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 2001;345(21):1537-41. 63. Sher G, Keskintepe L, Keskintepe M, et al. Oocyte karyotyping by comparative genomic hybridization provides a highly reliable method for selecting "competent" embryos, markedly improving in vitro fertilization outcome: a multiphase study. Fertil Steril 2007;87(5):1033-40. 64. Fragouli E, Delhanty JD, Wells D. Single cell diagnosis using comparative genomic hybridization after preliminary DNA amplification still needs more tweaking: too many miscalls. Fertil Steril 2007;88(1):247-8; author reply 248-9. 65. Hultén M, Tankimanova M, Baker H. Meiosis and meiotic errors. In: Jorde LB, Little PFR, Dunn MJ, Subramaniam S, eds. Encyclopedia of genetics, proteomics and bioinformatics (online edition). Chichester: John Wiley and Sons Ltd, 2005. |
| URI: | http://wrap.warwick.ac.uk/id/eprint/3796 |
Actions (login required)
![]() |
View Item |
Tools
Tools

