title: Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Prenatal CF screening in U.S. non-Hispanic Caucasians is more effective than previously thought.
authors.affiliation: Foundation for Blood Research, Scarborough, Maine 04074-0190, USA.
authors.forename: Glenn E
authors.initials: GE
authors.lastname: Palomaki
authors.forename: James E
authors.initials: JE
authors.lastname: Haddow
authors.forename: Linda A
authors.initials: LA
authors.lastname: Bradley
authors.forename: Stacey C
authors.initials: SC
authors.lastname: FitzSimmons
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D009656:North America; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D044465:White People / Q000235:genetics*