CYSTIC-FIBROSIS CARRIER POPULATION SCREENING IN THE PRIMARY-CARE SETTING

To determine the receptivity of prenatal care providers and their pati ents to carrier testing for cystic fibrosis (CF), we offered free carr ier screening, followed by genetic counseling af carriers, to all pren atal care providers in Rochester, NY, for all their female patients of reproductive age, pregnant or not. Of 124 prenatal care providers, on ly 37 elected to participate, but many of these offered screening only to pregnant women. The acceptance rate among pregnant women was simil ar to 57%. The most common reasons for accepting screening were to obt ain reassurance (50.7%) and to avoid having a child with CF (27.8%). T he most common reasons for declining screening were not intending to t erminate a pregnancy for CF (32.4%) and believing that the chance of h aving a CF child was very low (32.2%). Compared with decliners, accept ors were more likely to have no children, regarded having a child with CF as more serious, believed themselves more susceptible to having su ch a child, knew more about CF, would be more likely to terminate a pr egnancy if the fetus were shown to have CF, and more strongly supporte d offering CF screening to women of reproductive age. Of 4,879 women o n whom results were obtained, 124 were found to be carriers. Of these 124 carriers, the partners of 106 were tested. Of the five at-risk cou ples, four requested prenatal diagnosis and one requested neonatal dia gnosis. No woman found to be a carrier whose partner tested negative r equested prenatal diagnosis. Except for the imperfect knowledge of tho se testing negative, none of the adverse outcomes predicted for CF car rier testing in the general population were observed in this study.