Can comparative genomic hybridization improve in vitro fertilization outcomes?

Expert Review of Obstetrics and Gynecology

Volumn 3, Issue 1, 2008, Pages 51-58

  Fishel, Simon ^a   Lynch, Colleen ^a  

^a CARE Fertility and Genesis Genetics ^*  (United Kingdom)

Author keywords

Aneuploidy; Chromosome; Comparative genomic hybridization; Embryo; Floarescent in situ hybridization; In vitro fertilization; Mosaicism; Oocyte; Polar body

Indexed keywords

DNA;

ANEUPLOIDY; BIRTH RATE; CHROMOSOME ANALYSIS; CLINICAL EFFECTIVENESS; CLINICAL TRIAL; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO TRANSFER; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENETIC SCREENING; HUMAN; INFERTILITY; INTERMETHOD COMPARISON; KARYOTYPE; NUMERICAL CHROMOSOME ABERRATION; OOCYTE TRANSPORT; POLYMERASE CHAIN REACTION; PREGNANCY OUTCOME; PREGNANCY RATE; PREIMPLANTATION EMBRYO; REVIEW; TREATMENT OUTCOME;

EID: 38949179877     PISSN: 17474108     EISSN: None     Source Type: Journal    
DOI: 10.1586/17474108.3.1.51     Document Type: Review

References (40)

1. Edmonds DK, Lidsay KS, Miller JF et al. Early embryonic mortality in women. Fertil. Steril. 38, 447-453 (1982).
2. Wells D, Delhanty JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol. Hum. Reprod. 6, 1055-1062 (2000).
3. Hassold T, Hunt P. To err (meiotically) is human: studies of the genesis of human aneuploidy. Nat. Rev. Genet. 2, 280-291 (2001).
4. Gutiérrez-Mateo C, Benet J, Wells D et al. Aneuploidy study of human oocytes first polar body comparative genomic hybridisation and metaphase II fluorescence in situ hybridisation analysis. Hum. Reprod. 19,2859-2868 (2004).
5. LeMarie-Adkins R, Radke K, Hunt PA. Lack of checkpoint control at the mataphase/anaphase transition: a mechanism of meiotic non disjunction in mammalian females. J. Cell Biol. 139, 1611-1619 (1997).
6. Coonen E, Derhaag JG, Dunmoulin JC et al. Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos. Hum. Reprod. 19, 316-324 (2004).
7. Griffin DK, Wilton LJ, Handyside AH, Winston RMK, Delhanty JDA. Dual fluorescent in situ hybridisation for simultaneous detection of X and Y chromosome-specific probes for the sexing of human preimplantation embryonic nuclei. Hum. Genet. 89, 18-22 (1992).
8. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridisation. Prenat. Diagn. 19, 846-851(2000).
9. Pellestor F, Anahory T, Hamamah S. The chromosomal analysis of human oocytes. An overview of established procedures. Hum. Reprod. Update. 11(1), 15-32 (2005).
10. Wilton L, Voullaire L, Sargeant P, Williamson R, McBain J. Preimplantation embryo screening using comparative genomic hybridisation. Fertil. Steril. 80, 875-876 (2003).
11. Horsthemke B, Ludwig M. Assisted Reproduction: the epigenetic perspective. Hum. Reprod. Update 11(5), 473-482 (2005).
12. Fragouli E, Wells D, Whalley KM, Mills JA, Faed MJW, Delhanty JDA. Increased susceptibility to maternal aneuploidy demonstrated by comparative genomic hybridisation of human MII oocytes and 1st polar bodies. Cytogenet. Genome Res. 114, 30-38 (2006).
13. Stephenson MD, Awartani KA, Robinson WP. Cytogenetic analysis of miscarriages from couples with recurrent miscarriage: a case control study. Hum. Reprod. 17, 446-451 (2002).
14. Voullaire L, Wilton L, McBain J, Callaghan T, Williamson R. Chromosome abnormalities identified by comparative genomic hybridisation in embryos from women with repeated implantation failure. Mol. Hum. Reprod. 8(11), 1035-1041 (2002).
15. Human Fertilisation and Embryology Authority, Code of Practice (6th Edition). (2003).
16. Bazrt EB, Martini E, van den Berg I et al. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosascism in embryos from young women undergoing IVF. Hum. Reprod. 21(1), 223-233 (2006).
17. Donoso P, Staessen C, Fauser BCJM, Devroey P. Current value of preimplantation aneuploidy screening in IVF. Hum. Reprod. Update 13(1), 15-25 (2007).
18. Shayesth L, Lu Y, Kuo WL et al. PIK3CA is implicated as an oncogene in ovarian cancer. Nat. Genet. 21, 99-102 (1999).
19. Collins C, Rommens JM, Kowbel D et al. Positional cloning of ZNF2J7 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma. Proc. Natl. Acad. Sci. USA 95, 8703-8708 (1998).
20. Wells D, Sherlock JK, Handyside AH, Delhanty JD. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res. 27, 1214-1218 (1999).
21. Sher G, Keskintepe L, Keskintepe M et al. Oocyte karyotyping by comparative genomic hybridisation provides a highly reliable method for selecting 'competent' embryos, markedly improving in vitro fertilisation outcome: a multiphase study. Fertil. Steril. 87(5), 1033-1040 (2007).
22. Dean FB, Hosono S. Fang L et al. Comprehensive human genome amplification using multiple displacement amplification. Proc. Natl Acad. Sci. USA 99, 5261 (2002).
23. Le Caignec C, Spits C, Sermon K et al. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res. 34(9), e68 (2006).
24. Handyside AH, Robinson M, Simpson RJ et al. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantarion genetic diagnosis of inherited disease. Mol. Hum. Reprod. 10, 767-772 (2004).
25. Hellani A, Coskun S, Benkhalifa M et al. Multiple displacement amplification on single cell and possible PGD applications. Mol. Hum. Reprod. 10, 847-852 (2004).
26. Renwick PJ, Lewis CM, Abbs S, Ogilvie Mackie CM. Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. Prenat. Diagn. 27(3), 206-215 (2006).
27. Tzvetkov MV, Becker C, Kulle B, Nurnberg P, Brockmoller J, Wojnowski L. Genome wide single nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement based whole genome amplification. Electrophoresis 12, 710-715 (2005).
28. Wilton L, Williamson R, McBain J, Edgar D, Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploid by comparative genomic hybridization. N. Engl. J. Med. 345, 1537-1541 (2001).
29. Wilton L, Voullaire L, Sargent P, Williamson R, McBain J. Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil. Steril. 80(4), 860-868 (2003).
30. Jalal SM, Adeyinka A, Thornhill AR. Chromsome analysis in prenatal diagnosis. In: Handbook of Clinical Testing During Pregnancy. Current Clinical Pathology. Grownoski AM (Ed.). Humana Press Inc. NJ, USA 139-158 (2004).
31. Wilton L, Williamson B, McBain J and Voullaire L. Determination of aneuploidy in human embryos using comparative genomic hybridization. Fertil. Steril. 75, S6 (2001).
32. Gutierrez-Mateo C, Benet J, Wells D et al. Reliability of comparative genomic hybridisation to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum. Reprod. 19, 2118-2125 (2004).
33. Fragouli E, Delhanty JDA, Wells D. Single cell diagnosis using comparative genomic hybridization after preliminary DNA amplification still needs more tweaking: to many miscalls. Fertil. Steril. 88, 247-248 (2007).
34. Fragouli E, Wells D, Thornhill A et al. Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum. Reprod. 21(9), 2319-2328 (2006).
35. Fragouli E, Wells D, Doshi A, Gotts S, Harper JC, Delhanty JDA. Complete cytogenetic investigation of oocytes from a young woman with the use of comparative genomic hybridisation reveals meiotic errors. Prenat. Diagn. 26, 71-76 (2006).
36. Trussler J, Pickering S, Mackie Ogilvie C. Investigation of chromsomal imbalance in human embryos using comparative genomic hybridisation. Reprod. Biomed. Online. 8, 701-711 (2004).
37. Skakkabaek N, Jorgensen N, Rajpart-De Meyts E et al. Environment, lifestyle and male fertility: a review. Advances in fertility studies and reproductive medicine. IFFS (2007).
38. Baart EB, van den Berg I, Martini E, Eussen HJ, Fauser BCJM, van Opstal D. FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the value of extended aneuploidy detection. Prenat. Diagn. 27(1), 55-63 (2007).
39. Mastenbroek S, Truisk M, van Echten-Arden J et al. In vitro fertilisation with preimplantation screening. N. Engl. J. Med. 357(1), 9-17 (2007).
40. The Practice Committee of the Society for Assisted Reproductive Technology, The Practice Committee of the American Society for Reproductive Medicine. Preimplantation genetic testing: a Practice Committee opinion. Fertil. Steril. 88, 1497-1504 (2007).