Preconceptional cystic fibrosis carrier screening - Desirability and feasibility in the Netherlands

Cystic fibrosis (CF) is one of the most common serious genetic disorders in the Netherlands. It is characterised by recurrent respiratory and gastrointestinal problems, caused by the accumulation of abnormal sticky mucus. There is no cure for CF, but improved treatment has increased the median life expectancy to approximately 34 years. CF is an autosomal recessive disorder. In order to be affected, a child must inherit a CF mutation from both of its parents. In the Netherlands, the birth prevalence is 1 in 3600. So, 1 in 30 individuals is a healthy CF carrier. If both partners in a couple are carriers (1 in 900 couples), each child they have has a 1-in-4 risk of having CF. Most children with CF are born to couples with no previous family history of the disease. CF carrier screening is a means to enable people to find out whether they are a carrier, and to take a decision based on that information. Carrier screening before pregnancy (preconceptional screening) offers identified couples all available reproductive options: parents can accept the risk, choose to have no more children, opt for prenatal diagnosis and selective termination of pregnancy, use pre-implantation genetic diagnosis or use alternatives, such as donor insemination, egg-cell donation or adoption. The main objective of the thesis was to evaluate the desirability and feasibility of a preconceptional CF carrier screening programme in the Netherlands. Besides the evaluation of an offer of screening (Chapter 5, 6, 7 and 8), attention was given to other aspects of population-based carrier screening, i.e.:
• The evaluation of CF carrier screening programmes described in the literature (Chapter 2).
• The attitudes towards reproductive issues and carrier testing among CF patients and parents of children with CF (Chapter 3).
• The experiences and reproductive decisions of carrier couples prospectively identified in CF families (Chapter 4).