Clinical evaluation of preimplantation genetic diagnosis for BRCA 1/ 2 mutations

Inge Anna Pierre Derks - Smeets

Research output: ThesisDoctoral ThesisInternal

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Preimplantation genetic diagnosis (PGD, also known as embryo selection), gives couples with a genetic predisposition for breast cancer and ovarian cancer the opportunity to have a child without this predisposition. PGD for hereditary cancer was legalised in the Netherlands in 2008. Since then, hereditary breast cancer has been one of the most common indications of PGD. Research has shown that PGD for hereditary breast cancer is both successful and safe. Couples who undergo PGD for hereditary breast cancer have the same chance of becoming pregnant as couples who opt for PGD for a different reason. Women with a genetic predisposition for these conditions do not have a reduced egg cell count that may compromise the success rate of PGD. The IVF procedure required for PGD is safe for these women, meaning IVF does not pose an additional risk for developing breast cancer. Nevertheless, PGD remains a difficult choice for many couples. A digital decision-making tool is currently being developed to support this process.
Original languageEnglish
Awarding Institution
  • Maastricht University
  • Smulders - de Die, Christine, Supervisor
  • Tjan - Heijnen, Vivianne, Supervisor
  • Verpoest, Willem, Supervisor, External person
  • van Golde, Ron, Co-Supervisor
Award date17 Jan 2018
Place of PublicationMaastricht
Print ISBNs9789402808988
Publication statusPublished - 2018


  • preimplantation genetic diagnosis
  • PGD
  • embryo selection
  • hereditary breast cancer and ovarian cancer
  • BRCA mutations

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