Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Maartje C. Van Rij, Marjan De Rademaeker, Celine Moutou, Jos C. F. M. Dreesen, Martine De Rycke, Inge Liebaers, Joep P. M. Geraedts, Christine E. M. De Die-Smulders*, Stephane Viville

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

26 Citations (Web of Science)


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. European Journal of Human Genetics (2012) 20, 368-375; doi: 10.1038/ejhg.2011.202; published online 9 November 2011
Original languageEnglish
Pages (from-to)368-375
JournalEuropean Journal of Human Genetics
Issue number4
Publication statusPublished - Apr 2012


  • preimplantation genetic diagnosis (PGD)
  • Huntington's disease (HD)
  • HTT gene
  • exclusion testing
  • delivery rates
  • prenatal diagnosis

Cite this