Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.
Level 4 - case-series / case-control
Retrospective qualitative interview study without a control group.
PubMed 23137131 · doi:10.1111/cge.12058
What was done
Researchers conducted a qualitative retrospective interview study in the Netherlands evaluating couples who underwent exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD) for Huntington's disease between 1996 and 2010. The study included 17 couples (13 experienced ePND, 6 experienced ePGD) with a mean follow-up interval of 3.9 years to assess their motivations, moral considerations, and psychological experiences.
What was found
Couples balanced moral reservations regarding termination of pregnancy or discarding potentially healthy embryos against the goal of protecting future offspring from Huntington's disease. Seven couples terminated a total of 11 pregnancies that had a 50% risk of Huntington's disease; none expressed regret. Couples selected ePGD primarily to avoid initial or subsequent pregnancy terminations.
Why it matters
This study provides real-world qualitative insight into why at-risk individuals who choose not to know their Huntington's carrier status pursue exclusion testing, highlighting the counseling and psychological support needs associated with these procedures.
Limits
The study is limited by a small sample size (17 couples), retrospective design susceptible to recall bias (mean 3.9 years post-procedure), and restriction to a single country's healthcare system. No quantitative psychosocial scales or control groups were utilized.
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.