Objective: To determine if preconceptional screening for carriership of cystic fibrosis (CF) meets the requirements formulated by the Committee for Screening for Hereditary and Congenital Disorders of the Health Council.
Design: Theoretical evaluation.
Method: Preconceptional screening for CF carriership by means of direct mutation analysis in a blood sample, cheek smear or mouth rinse sample of both partners of pairs desiring children was tested against the criteria of the Health Council.
Results: Preconceptional screening for CF carriership proves to meet most of the requirements for genetic screening. Current problems are the inadequate sensitivity of the screening (72% for pairs, 85% for individuals), the consequences of this for the meaning of the test results and reaching of the target group. Much attention is required for provision of information at all stages of the screening procedure. The desirability, feasibility and psychosocial effects of this type of screening have not yet been investigated sufficiently in the Netherlands.