Patients’ experiences of Preimplantation Genetic Diagnosis (PGD)

Abstract: The aim of the present study was to investigate the experiences and attitudes concerningpreimplantation genetic diagnosis (PGD) among the couples that have undergone PGD in Sweden.PGD is an alternative to conventional prenatal diagnosis for couples with a high risk of having a childwith genetic disease. Couples opting for PGD have to perform in vitro fertilisation, generatedembryos are subjected to biopsy and diagnosis, and healthy embryos can be transferred to the femaleuterus. Hopefully a pregnancy will be established. However, PGD is a strategy that implies bothphysical and psychological stress, and it is not obvious that this is an easier alternative than prenataldiagnosis. A questionnaire was sent to 116 couples that had carried out at least one PGD treatmentcycle. The response rate was 89%, thus almost all couples treated in Sweden since the start in 1995was represented. Results: The stress, both psychologically and physically, caused by the PGD treatment was evaluatedsomewhere between “As expected” and “More stressful than expected”. The stress experienced duringthe PGD treatments was not associated with the couples’ previous reproductive experiences. The mostphysical stressful event was the oocyte retrieval and the most psychologically stressful period was“waiting for a possibly/ hopefully embryo transfer”.The majority of couples that had performed prenatal diagnosis on a spontaneous pregnancy andexperienced a PGD treatment reported that PGD was more physically stressful (54%), but that prenataldiagnosis was more psychologically stressful (51%). The couples reported the reproductivealternatives chosen after PGD closure, and couples performing PGD at the present rated futurereproductive alternatives. Results indicated that ocyte- and sperm donations were a less attractivealternative than for example adoption. Participants in the study also had the opportunity to state forwhom /which indications PGD should be an option. Conclusion: The stress associated with performing PGD or prenatal diagnosis is extensive and noneof the alternatives is an obvious choice. PGD was reported as more physical stressful, but prenataldiagnosis was more psychologically stressful. The reproductive pathways chosen after PGD closurewas reported, and surprisingly sperm and oocyte donations were not attractive alternatives. The choiceof reproductive alternatives might be influenced by the information and support provided by thehealthcare personal. Knowledge about the experience of PGD treatments is of great importance forthose that meet these couples for genetic and reproductive counselling, in order to give them propercare and to better meet their demand of information and support.