Key words: genetics, reproduction, counselling, BRCA, PGD

"A reproductive dilemma? Optimizing counselling for couples with hereditary breast and ovarian cancer who consider using preimplantation genetic diagnosis"

Since preimplantation genetic diagnosis (PGD or embryo-selection) for hereditary breast and ovarian cancer was allowed in the Netherlands in 2008, it has been one of the most frequently requested indications. However, a majority of couples with hereditary breast and ovarian cancer still prefers a natural pregnancy without genetic testing. The PGD outpatient clinic of the Maastricht UMC+ observed couples struggling with their reproductive choice while they appeared to have unique reproductive concerns. With this in mind, it was decided to set up a number of studies in order to gain insight into the reproductive decision-making process and support needs of these couples. In addition, this research wanted to map the levels of PGD awareness, knowledge and acceptability of couples and involved professionals. By gathering this information, the research aimed to increase insight in this unique patient group’s perception and intended to provide recommendations to adapt education and support practices to these couples’ characteristics, needs and wishes.

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