Population screening for cystic fibrosis.

Abstract

In the 7 years since the cystic fibrosis (CF) gene has been cloned, many experimental trials of population screening for CF heterozygotes have been reported. Targeting young adults near reproductive age has shown that the method in which screening is offered is a major determinant of acceptance rates: personal invitations produce high rates of acceptance, whereas offers made by mail or leaflet produce disappointing results. In contrast, trials of screening during pregnancy have been more satisfactory. Two models have been tested. In sequential screening, women are screened first and their partners are tested only if the women are found positive for CF alleles. This can lead to anxiety during the period when women who have tested positive await their partner's results. In couple screening both partners agree to be treated as a unit and are reported to be "high risk" only if both results are positive. In all other situations, the results are reported to be negative. Couple screening has turned out to be efficient, trouble-free, and consumer-friendly and may be the method of choice for integration into routine health care.