Screening Newborns for Cystic Fibrosis

A successful screening program for cystic fibrosis (CF) refers to the ability of the program to appropriately identify and refer for care those with CF, while meeting the needs of those who do not have CF, particularly those infants identified by the screening program as carriers (individuals unaffected by CF but have a mutation in one of their CFTR genes). Some measures of success might include: (1) how closely the screen approaches 100% sensitivity, (2) the ability of the screen to minimize intrusion on the lives of parents of unaffected infants, (3) the acceptability by the families regarding the integration of CF into existing screening programs, or (4) the acceptability and impact on primary care physicians who must deal with screening results and parental anxieties. This report reviews the evidence in the field.