The uptake and outcome of prenatal and preimplantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008)

Abstract

We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for Huntington's disease (HD). In the Netherlands exclusion PND is available for persons at 50% risk; exclusion PGD is not allowed. All 162 couples who underwent PND or PGD for HD between 1998 and 2008 and referrals for exclusion PGD to Belgium were included. Couples' reproductive information was collected until December 2010. 132 couples (81.5%) underwent PND in 262 pregnancies, 54 (33.3%) started PGD, 25 used both. 16% of PND-couples used exclusion-PND, 6% used exclusion-PGD. Outcome: 76.5% of PND couples delivered ≥1 unaffected child(ren) after PND, and 44.4% of PGD couples delivered ≥1 PGD-child(ren) (mean 2.5 cycles/couple). Couples opting for PGD secondarily (after a previous pregnancy), had more frequently terminated a pregnancy for HD (87.0%), compared with couples secondarily opting for PND (55.2%) (p=0.015). At-risk or HD expansion carrier males were underrepresented in the group of couples primarily opting for PGD (25%), and overrepresented in the secondary PGD group (64%). We conclude that couples reconsider their choices in every subsequent pregnancy based on their previous experience, personal beliefs and the gender of the at-risk partner.