Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells

Reproductive BioMedicine Online

Volumn 20, Issue 4, 2010, Pages 470-476

  Renwick, Pamela ^a   Trussler, Jane ^a   Lashwood, Alison ^a   Braude, Peter ^a   Ogilvie, Caroline Mackie ^a  

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

Author keywords

Haplotype analysis; Monogenic disease; PGD; PGH; Whole genome amplification

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BABY; BIOPSY; DIAGNOSTIC PROCEDURE; EMBRYO; EMBRYO TRANSFER; FEMALE; GENE MUTATION; GENETICS; GERM LINE; HAPLOTYPE; HUMAN; INHERITANCE; MONOGENIC DISORDER; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; RISK; X CHROMOSOME LINKED DISORDER;

EID: 77951652338     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.rbmo.2010.01.006     Document Type: Article

References (15)

1. Burlet, P., Frydman, N., Gigarel, N., et al., 2005. Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil. Steril. 84, 734-739.
2. Burlet, P., Frydman, N., Gigarel, N., et al., 2006. Multiple displacement amplification improves PGD for fragile X syndrome. Mol. Hum. Reprod. 12, 647-652.
3. Fiorentino, F., Magli, M.C., Podini, D., et al., 2003. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol. Hum. Reprod. 9, 399-410.
4. Goossens, V., Harton, G., Moutou, C., et al., 2008. ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum. Reprod. 23, 2629-2645.
5. Grace, J., El-Toukhy, T., Scriven, P., et al., 2006. Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. Bjog 113, 1393-1401. (Pubitemid 44736684)
6. Handyside, A.H., Kontogianni, E.H., Hardy, K., Winston, R.M., 1990. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, 768-770. (Pubitemid 20120607)
7. Handyside, A.H., Robinson, M.D., Simpson, R.J., et al., 2004. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol. Hum. Reprod. 10, 767-772.
8. Qubbaj, W., Al-Aqeel, A.I., Al-Hassnan, Z., et al., 2008. Preimplantation genetic diagnosis of Morquio disease. Prenat. Diagn. 28, 900-903.
9. Rechitsky, S., Kuliev, A., Tur-Kaspa, I., Morris, R., Verlinsky, Y., 2004. Preimplantation genetic diagnosis with HLA matching. Reprod. Biomed. Online 9, 210-221.
10. Ren, Z., Zhou, C., Xu, Y., Deng, J., Zeng, H., Zeng, Y., 2007. Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification. Mol. Hum. Reprod. 13, 431-436.
11. Renwick, P., Ogilvie, C.M., 2007. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev. Mol. Diagn. 7, 33-43.
12. Renwick, P.J., Trussler, J., Ostad-Saffari, E., et al., 2006. Proof of principle and first cases using preimplantation genetic haplotyping - a paradigm shift for embryo diagnosis. Reprod. Biomed. Online 13, 110-119.
13. Sermon, K., De Rycke, M., 2007. Single cell polymerase chain reaction for preimplantation genetic diagnosis: methods, strategies, and limitations. Methods Mol. Med. 132, 31-42.
14. Spits, C., De Rycke, M., Verpoest, W., et al., 2006. Preimplantation genetic diagnosis for Marfan syndrome. Fertil. Steril. 86, 310-320.
15. Thornhill, A.R., deDie-Smulders, C.E., Geraedts, J.P., et al., 2005. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum. Reprod. 20, 35-48.