Preconceptional screening for carriers of haemoglobinopathies and/or cystic fibrosis, dependent on ethnic background: feasibility of a combined offer in the Dutch population
06 / 2002 - 04 / 2006
EMGO annual report 2002
OBJECTIVES: Cystic fibrosis (CF) and haemoglobinopathies (HbPs) are autosomal recessive disorders occurring in different sections of the Dutch population, defined by ethnic background. Preconceptional genetic carrier screening allows couples at risk to make informed reproductive decisions. In this study, the desirability and feasibility of a combined offer of preconceptional CF and HbP carrier screening will be investigated. The following research questions will be addressed: 1) Will it be possible to develop a valid instrument to support those who are invited to participate in preconceptional carrier screening to decide which screening (for CF, HbPs, both or none of these) would be appropriate for in their particular case? 2) How will people in our multi-ethnic society react to an offer of targeted preconceptional carrier screening, making use of the above instrument? The final goal of the research is the implementation of a combined offer of preconceptional CF and HbP carrier screening. METHODS: After pre-testing, 150 people will be asked to read the educational material and make a decision based on the decision support material. They will then be interviewed about the comprehensibility of the material and about their ethnic background to determine whether the decision they made was correct. The validated instrument will be used during a screening study, in which people aged 20-35 years will receive the educational material and the decision support material from either their general practitioner or the Municipal Health Service. Those who come forward for testing will complete questionnaires before and after testing and at 6 months follow-up. The questionnaires will focus on determinants of participation, reproductive intentions and unwanted side-effects. Non-respondents will be interviewed to find out whether the respondents are representative of the entire target group.