Screening for Cystic Fibrosis: 23-Mutation Panel Is Adequate

Since 2001, the American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended offering cystic fibrosis (CF) screening to white . . .

Since 2001, the American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended offering cystic fibrosis (CF) screening to white couples of European or Ashkenazi Jewish origin. Screening involves testing for a panel of 25 mutations, each of which has a frequency of at least 0.1% among CF patients. For other ethnic groups (blacks, Asians, and Hispanics), the ACMG and ACOG recommend that CF screening be "made available." The authors of the current study examined data on 335,204 consecutive CF screening tests from a large commercial laboratory to determine whether actual CF mutations correlated with those in the 25-mutation panel.

The population frequency of ΔF508 was 1 in 44 (75% of all CF muta…

Reviewing Author

Sandra Ann Carson, MD