Desirability and feasibility of preconception cystic fibrosis carrier screening. [Dutch]

Abstract

Objective. To investigate the desirability and feasibility of preconception cystic fibrosis (CF) carrier screening. Design. Descriptive. Method. During the period 1997-2000, individuals at the age of 20-35 years in the Midwest of the Netherlands were invited by mail, by either the Municipal Health Service (MHS) or their general practitioner (GP), to participate in CF-carrier screening together with their partner. Pre-test counselling was provided during a group educational session or by a GP. Mouthwashes were taken for DNA-mutation analyses. Data on nonrespondents and participants were gathered using questionnaires. Results. Of 38,114 individuals who received an invitation, 20% had a partner with whom they were planning children. The participation was not affected by whether the letter of invitation was sent by the MHS of the GP. However, the response rate was about 2.5 times as high when the letter invited couples to make an appointment with a GP (25%) than when it invited them to attend a group educational session (9-12%). A total of 580 couples came in for pre-test counselling and 96% of them (559 couples) consented to have the test after counselling. The main reasons given by couples for not attending the pre-test counselling were 'lack of time to attend' (48%; 72/150) and 'don't want to know the test-results' (28%; 42/150). A total of 69% (191/278) of non-respondents and 89% (962/1085) of participants believed that CF-carrier screening should be offered routinely to all couples planning a pregnancy. Eighteen carriers were found; their partners all tested negative. When asked, eight participants were worried about their results and seven carriers felt less healthy. Nevertheless, all of these, and 95% (756/794) of the other participants, would make the same decision to be tested again. Conclusions. These results suggest a positive attitude towards offering population-based CF-carrier screening among most couples planning to have children. Preconception carrier screening appeared possible, both in terms of practical feasibility and target-group accessibility and with regard to the acceptante of the offer and participants' satisfaction