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  • Print publication year: 2013
  • Online publication date: November 2013

Chapter 33 - Preimplantation genetic diagnosis

from Section 4 - ART: skills, techniques and present status


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2. A. Ao, D. Wells, A. H. Handyside, R. M. Winston and J. D. Delhanty. Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J Assist Reprod Genet 15, no. 3 (1998 Mar):140–4.
3. J. Cohen, D. Wells and S. Munné. Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril 87, no. 3 (2007 Mar):496–503.
4. E. Coonen, J. C. Harper, F. C. Ramaekers, J. D. Delhanty, A. H. Hopman, J. P. Geraedts and A. H. Handyside. Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation. Hum Genet 94, no. 6 (1994 Dec):609–15.
5. J. C. Dreesen, L. J. Jacobs, M. Bras, J. Herbergs, J. C. Dumoulin, J. P. Geraedts, J. L. Evers and H. J. Smeets. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 6, no. 5 (2000 May):391–6.
6. F. Fiorentino, L. Spizzichino, S. Bono, A. Biricik, G. Kokkali, L. Rienzi, F. M. Ubaldi, E. Iammarrone, A. Gordon and K. Pantos. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization.. Hum Reprod (2011 Apr 12) (epub ahead of print).
7. J. Fischer, P. Colls, T. Escudero and S. Munné. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril 94, no. 1 (2010 Jun):283–9.
8. V. Goossens, G. Harton, C. Moutou, J. Traeger-Synodinos, M. Van Rij and J. C. Harper. ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod 24, no. 8 (2009 Aug):1786–810. Epub 2009 Apr 29.
9. C. Gutiérrez-Mateo, J. F. Sánchez-García, J. Fischer, S. Tormasi, J. Cohen, S. Munné and D. Wells. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril 92, no. 5 (2009 Nov):1544–56.
10. A. H. Handyside, E. H. Kontogianni, K. Hardy and R. M. Winston. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, no. 6268 (1990 Apr 19):768–70.
11. A. H. Handyside, G. L. Harton, B. Mariani, A. R. Thornhill, N. Affara, M. A. Shaw and D. K. Griffin. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 47, no. 10 (2010 Oct):651–8.
12. K. Hardy and A. H. Handyside. Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Arch Pathol Lab Med 116, no. 4 (1992 Apr):388–92.
13. S. Munné, T. Dailey, M. Finkelstein, H. U. G Weier. Reduction in signal overlap results in increased fish efficiency: implications for preimplantation genetic diagnosis. J Assist Reprod Genet 13 (1996):149–56.
14. W. Piyamongkol, M. G. Bermúdez, J. C. Harper and D. Wells. Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod 9, no. 7 (2003 Jul):411–20.
15. S. Rechitsky, C. Strom, O. Verlinsky, T. Amet, V. Ivakhnenko, V. Kukharenko, A. Kuliev and Y. Verlinsky. Allele dropout in polar bodies and blastomeres. J Assist Reprod Genet 15, no. 5 (1998 May):253–7.
16. P. J. Renwick, J. Trussler, E. Ostad-Saffari, H. Fassihi, C. Black, P. Braude, C.. M. Ogilvie and S. Abbs. Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis. Reprod Biomed Online 13, no. 1 (2006 Jul):110–19.
17. P. Renwick, J. Trussler, A. Lashwood, P. Braude and C. M. Ogilvie. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online 20, no. 4 (2010 Apr):470–6. Epub 2010 Jan 11.
18. K. D. Sermon, A. Michiels, G. Harton, C. Moutou, S. Repping, P. N. Scriven, S. SenGupta, J. Traeger-Synodinos, K. Vesela, S. Viville, L. Wilton and J. C. Harper. ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod 22, no. 2 (2007 Feb):323–36.
19. C. Spits, M. De Rycke, N. Van Ranst, W. Verpoest, W. Lissens, A. Van Steirteghem, I. Liebaers and K. Sermon. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 27, no. 5 (2007 May):447–56.
20. N. R. Treff, X. Tao, W. J. Schillings, P. A. Bergh, R. T. Scott, Jr and B. Levy. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril (2011 May 14).
21. Y. Verlinsky, S. Rechitsky, W. Schoolcraft, C. Strom and A. Kuliev. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA 285, no. 24 (2001 Jun 27):3130–3.
22. H. Van de Velde, M. De Rycke, C. De Man, K. De Hauwere, F. Fiorentino, S. Kahraman, G. Pennings, W. Verpoest, P. Devroey and I. Liebaers. The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing. Hum Reprod 24, no. 3 (2009 Mar):732–40.
23. A. De Vos, C. Staessen, M. De Rycke, W. Verpoest, P. Haentjens, P. Devroey, I. Liebaers and H. Van de Velde. Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers. Hum Reprod 24, no. 12 (2009 Dec):2988–96.