Abstract

Feedback on the procedure, staff, emotional outcome and reproductive decisions is important for genetic counselling in Huntington's disease (HD). A standardised telephone interview was done to 12 couples who had prenatal diagnosis (PND) after presymptomatic testing (23 PND). Mean time between the last PND and the interview was 3.5 years (1 month–12 years). All couples (mean age 28.5 years (22–36)) except two requested a PND for their first reproductive decision. After the first PND, five couples had favourable results. Two of them continued with a PND that turned out to be favourable also. One of these two couples still wants another child but is experiencing anxiety at the thought of going through another procedure. For couples who received an unfavourable first PND (n=7), only three restarted the procedure approximately 1 year later. One of them had another unfavourable result: whereas they had first chosen PND rather than preimplantation diagnosis (PID), they are now hesitant to have a PID and are wondering if they would terminate after a third unfavourable result. Among the four other couples with a first unfavourable PND, three still want another pregnancy with only one already deciding to continue with a PND. Another one signed up for sperm donations (after four PID failures) while the third one decided to ‘let it to destiny’. After PND, seven out of 12 couples are still willing to have children. None stated that they wanted a child without PND. Regarding their choice, two women expressed the fact that they might have thought differently about the termination if the CAG expansion of the fetus had been shorter. Couples never mentioned the carriers’ future disease. Most couples take PND as a chance of allowing them to have children. Nine persons estimated the time between pregnancy onset and the PND result as too long. All the interviewees were satisfied with support even if two of them expressed the need for information about research and psychological support. Current well being status (n=15) according to a 1–9 scale showed a mean score of 7.07 (5–9).