The clinical reproductive outcome of preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is a technique that allows genetic selection of embryos prior to pregnancy, with the aim of avoiding transmission of hereditary disorders in the offspring. The technique was applied for the first time in humans in 1990, and has developed at UZ Brussel since 1992. There are currently over 100 genetic conditions that can be diagnosed by PGD. The research topic of the thesis is the clinical reproductive outcome of PGD, the factors that affect the outcome and the potential risks that are associated with this practice. The research methodology includes the application of life table analysis to assess cumulative live birth rate following PGD and multivariate regression analysis within this application, in a large cohort of PGD treatment cycles performed over 15 years of PGD practice. The strengths and weaknesses of this methodology in reproductive medicine and PGD are discussed extensively in the thesis. Furthermore, the thesis presents an important subgroup analysis of the reproductive outcome of couples undergoing PGD for myotonic dystrophy type I (DM1), a disorder that is known to be associated with reproductive as well as obstetric issues. The risk of monozygotic twinning in PGD is analysed, and the risks of perinatal complications are discussed. Current clinical reproductive practices such as single embryo transfer (SET) and ovarian stimulation in PGD are analysed.