FISH for pre-implantation genetic diagnosis

Journal of Visualized Experiments

Volumn , Issue 48, 2010, Pages

  Scriven, Paul N ^a   Kirby, Toby L ^a   Ogilvie, Caroline Mackie ^a  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Chromosome aneuploidy; Fluorescence in situ hybridization; Issue 48; Medicine; PGD; Pre implantation genetic diagnosis; Sex determination; Translocations

Indexed keywords

EID: 80355131670     PISSN: 1940087X     EISSN: None     Source Type: Journal    
DOI: 10.3791/2570     Document Type: Article

References (18)

1. Scriven, P. N., Handyside, A. H., and Ogilvie, C. M. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat. Diagn. 18, 1437-1449 (1998).
2. nd Ed, JC Harper). Cambridge University Press. Pp194-201 (2009).
3. Harper, J. C., Coonen, E., Ramaekers, F. C. S., Delhanty, J. D. A., Handyside, A. H., Winston, R. M. L., and Hopman, A. H. N. Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in situ hybridisation using directly labelled probes. Hum. Reprod. 9, 721-724 (1994).
4. nd Ed, JC Harper). Cambridge University Press. Pp230-235 (2009).
5. Munné, S., Lee, A., Rosenwaks, Z., Grifo, J., and Cohen, J. Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod. 8, 2185-2192 (1993).
6. nd Ed, JC Harper). Cambridge University Press. Pp203-229 (2009).
7. Scriven PN, Bossuyt PM. Diagnostic accuracy: theoretical models for preimplantation genetic testing of a single nucleus using the fluorescence in situ hybridization technique. Hum Reprod. 2010 Jul 30. [Epub ahead of print]
8. Tarkowski, A. K. An air drying method for chromosome preparations from mouse eggs. Cytogenetics 5, 394-400 (1966).
9. Coonen, E., Dumoulin, J. C., Ramaekers, F. C., Hopman, A. H. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum. Reprod. 9, 533-537 (1994).
10. Dozortsev D. I., and McGinnis K. T. An improved fixation technique for fluorescence in situ hybridization for preimplantation genetic diagnosis. Fertil. Steril. 76, 186-188 (2001).
11. Hsu, L. Y., Benn, P. A., Tannenbaum, H. L., Perlis, T. E., Carlson, A. D. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am. J. Med. Genet. 26, 95-101 (1987).
12. Shim, S. H., Pan, A., Huang, X. L., Tonk, V. S., Varma, S. K., Milunsky, J. M., Wyandt, H. E. FISH variants with D15Z1. J. Assoc. Genet. Technol. 29, 146-151 (2003).
13. Knight, S. J. and Flint, J. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J. Med. Genet. 37, 401-409 (2000).
14. Thornhill, A. R., deDie-Smulders, C. E., Geraedts, J. P., Harper, J. C., Harton, G. L., Lavery, S.A., Moutou, C., Robinson, M.D., Schmutzler, A.G., Scriven, P.N., Sermon, K.D., Wilton, L.; ESHRE PGD Consortium (PGS) ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum. Reprod. 20, 35-48 (2005).
15. Munné, S., Wells, D., Cohen, J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil. Steril. 94, 408-30 (2010).
16. Wilton L, Williamson R, McBain J, Edgar D, and Voullaire L. Birth of a healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N. Engl. J. Med. 345, 1537-1541 (2001).
17. Wells D, Alfarawati S, and Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol. Hum. Reprod. 14, 703-710 (2008).
18. 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. 47, 651-658 (2010).