Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population.

Purpose: To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic groups and for a panethnic U.S. population.

Cancer risk in nontransplanted and transplanted cystic fibrosis patients: a 10-year study.

Background: Cancer in patients with cystic fibrosis (CF), the most common genetic disorder in Caucasians, has been a rare event. However, more patients now reach adulthood, and more patients undergo organ transplantation-factors associated with an increased cancer risk. Our aim was to assess the risk of cancer in nontransplanted and transplanted CF patients.

The impact of early cystic fibrosis diagnosis on pulmonary function in children.

Objective: To investigate the impact of early diagnosis on pulmonary function in a large cohort of children with cystic fibrosis (CF).

Study Design: CF cases identified from the CF Foundation National Patient Registry and diagnosed between 1982 and 1990 were categorized as: early asymptomatic diagnosis (EAD; n = 157), early symptomatic diagnosis (ESD; n = 227), later asymptomatic diagnosis (LAD; n = 161), and later symptomatic diagnosis (LSD; n = 3080). Early CF diagnosis was diagnosis before 6 weeks of age; later diagnosis was diagnosis at 6 weeks to 36 months of age, inclusive.

Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.

Purpose: To update estimates of individual and cumulative cystic fibrosis (CF) mutation frequencies in non-Hispanic Caucasians for the prenatal screening panel recommended by American College of Medical Genetics and to determine the impact on screening performance.

Methods: Two data sources were used. In the first (CF Genetic Analysis Consortium), our re-analysis was restricted to North American studies.