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

Abstract

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. In the second (CF Foundation National Patient Registry), we performed a new analysis restricted to individuals tested at eight Therapeutic Development Network sites. Results: The updated average cumulative proportion of mutations identified is 88.34% (higher than previously reported), indicating that 78% of high-risk couples (and affected fetuses) can potentially be identified. Conclusion: Prenatal CF screening in U.S. non-Hispanic Caucasians is more effective than previously thought.