TY - JOUR
T1 - Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
AU - Van Rij, Maartje C.
AU - De Rademaeker, Marjan
AU - Moutou, Celine
AU - Dreesen, Jos C. F. M.
AU - De Rycke, Martine
AU - Liebaers, Inge
AU - Geraedts, Joep P. M.
AU - De Die-Smulders, Christine E. M.
AU - Viville, Stephane
PY - 2012/4
Y1 - 2012/4
N2 - 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
AB - 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
KW - preimplantation genetic diagnosis (PGD)
KW - Huntington's disease (HD)
KW - HTT gene
KW - exclusion testing
KW - delivery rates
KW - prenatal diagnosis
U2 - 10.1038/ejhg.2011.202
DO - 10.1038/ejhg.2011.202
M3 - Article
C2 - 22071896
VL - 20
SP - 368
EP - 375
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 4
ER -