Prenatal diagnosis of cystic fibrosis

Since 1983, prenatal diagnosis for CF has been available. The indirect method of microvillar intestinal enzyme analysis was first used, followed by DNA linkage studies by RFLPs, and then aided by disequilibrium data. The past year has brought new promise with the identification of the CF gene and of a single amino acid deletion that is present in 70% of the gene mutations. In the next several years, it is hoped that the remaining mutations will be found, thus increasing the accuracy of prenatal diagnosis by direct detection of the mutations and allowing for carrier testing of the general population.