Cystic fibrosis screening: Lessons learned from the first 320,000 patients

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

“…We identified individuals with 2 CFTR mutations and the clinical indication of carrier testing. Because of the origin of the patient population, we were not able to determine if any of the individuals had clinical symptoms of CF or CF-related disease; however, the identification of 2 mutation carriers during screening is consistent with the variable expression of CFTR mutations, which has been reported in other studies of carriertesting populations (32)(33)(34). Ninety-four percent of the p.R117H-positive individuals with a second mutation did not carry a 5T allele.…”

Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen

“…A recent study of 335,204 patients screened for carrier status revealed four individuals with two CF mutations who had not been previously diagnosed with CF. 11 This study underscored the lack of definitive genotype/phenotype correlations and discussed the counseling dilemmas associated with such findings. We report a patient who was referred for carrier screening and was found to have two rare mutations but exhibited no overt clinical features of CF.…”

Prenatal screening for cystic fibrosis: An early report card

“…1 It illustrates just how common this testing has become in the last few years. Direct testing for cystic fibrosis became possible soon after the CFTR gene was cloned in 1988, but widespread prenatal screening did not occur until 2001, some 14 years later.…”