Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians.
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.
Palomaki
Glenn E
GE
Foundation for Blood Research, Scarborough, Maine 04074-0190, USA.
Haddow
James E
JE
Bradley
Linda A
LA
FitzSimmons
Stacey C
SC
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*