Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
Level 4 - case-series / case-control
Uncontrolled prospective multicentre case series
PubMed 22071896 · doi:10.1038/ejhg.2011.202
What was done
Prospective cohort study analyzing 13 years (1995–2008) of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) across three European centres (Brussels, Maastricht, and Strasbourg). Data were collected on 331 couples at intake, evaluating reproductive history, testing method (direct CAG-triplet repeat testing vs. exclusion testing via linkage analysis), treatment cycles, and delivery outcomes.
What was found
Of 331 couples at intake, 68% requested direct testing and 32% exclusion testing. Overall, 39% of women had a previous pregnancy; history of pregnancy termination after prenatal diagnosis was significantly higher in the direct testing group (25%) than the exclusion group (10%; P=0.0027). A total of 257 couples started workup, and 174 completed at least one PGD cycle. Across 389 cycles reaching oocyte retrieval (OR), delivery rates were 19.8% per OR and 24.8% per embryo transfer, resulting in 77 deliveries and 90 live-born children.
Why it matters
This study provides multi-centre benchmark data on the feasibility, intake patterns, and delivery rates of direct and exclusion PGD for couples at risk of transmitting Huntington's disease.
Limits
The study is an uncontrolled observational series from specialized European centres. The abstract does not report diagnostic error rates, miscarriage rates, adverse pregnancy outcomes, or long-term pediatric follow-up data.
Cited by
- supports Preimplantation genetic testing for monogenic disorders (PGT-M) can test embryos for Huntington's disease using a non-disclosure protocol where the at-risk parent does not learn their own carrier status.