Cystic fibrosis carrier screening: steps in the development of a mutation panel.
The American College of Obstetricians and Gynecologists (ACOG) has now officially recommended that cystic fibrosis (CF) carrier screening be offered to all Caucasian pregnant couples. The American College of Medical Genetics (ACMG) has officially recommended that CF-carrier screening be performed using a 25-mutation panel. Data is presented to indicate that an expanded pan-ethnic mutation panel, containing at least 47 mutations, would provide significantly greater CF-carrier identification in the ethnically diverse U.S. population.
Gilbert
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F
Genetics/Pediatrics, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA. fgilbert@med.cornell.edu
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005060:Europe; D005820:Genetic Testing; D006579:Heterozygote; D006630:Hispanic or Latino; D007558:Italy; D009154:Mutation; D013030:Spain; D013548:Sweden