Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
- 9 November 2011
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 20 (4), 368-375
- https://doi.org/10.1038/ejhg.2011.202
Abstract
This study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couples' reproductive history, PGD approach, treatment cycles and outcomes between 1995 and 2008 were collected prospectively. Of 331 couples for intake, 68% requested direct testing and 32% exclusion testing (with a preponderance of French couples). At the time of PGD intake, 39% of women had experienced one or more pregnancies. A history of pregnancy termination after prenatal diagnosis was observed more frequently in the direct testing group (25%) than in the exclusion group (10%; P=0.0027). PGD workup was based on two approaches: (1) direct testing of the CAG-triplet repeat and (2) linkage analysis using intragenic or flanking microsatellite markers of the HTT gene. In total, 257 couples had started workup and 174 couples (70% direct testing, 30% exclusion testing) completed at least one PGD cycle. In total, 389 cycles continued to oocyte retrieval (OR). The delivery rates per OR were 19.8%, and per embryo transfer 24.8%, resulting in 77 deliveries and the birth of 90 children. We conclude that PGD is a valuable and safe reproductive option for HD carriers and couples at risk of transmitting HD.Keywords
This publication has 43 references indexed in Scilit:
- Huntington's disease: a clinical reviewOrphanet Journal of Rare Diseases, 2010
- Genetic testing in asymptomatic minorsEuropean Journal of Human Genetics, 2009
- Validation of preimplantation genetic diagnosis by PCR analysis: genotype comparison of the blastomere and corresponding embryo, implications for clinical practiceMolecular Human Reproduction, 2008
- Problems assessing uptake of Huntington disease predictive testing and a proposed solutionEuropean Journal of Human Genetics, 2008
- Predictive and pre-natal testing for Huntington Disease in Australia: results and challenges encountered during a 10-year period (1994-2003)Clinical Genetics, 2006
- Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington’s diseaseFertility and Sterility, 2006
- New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applicationsEuropean Journal of Human Genetics, 2004
- Aspects of biopsy procedures prior to preimplantation genetic diagnosisPrenatal Diagnosis, 2001
- Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disordersClinical Genetics, 1996
- Genetic prediction and family structure in Huntington's chorea.BMJ, 1985