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Genet Med. 2002 Mar-Apr;4(2):90-4.

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

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  • 1Foundation for Blood Research, Scarborough, Maine 04074-0190, USA.

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.

[PubMed - indexed for MEDLINE]
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