PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS WITH ENZYMES ANALYSIS AND MOLECULAR-BIOLOGY

Prenatal diagnosis of cystic fibrosis established by study of RFLPs flanking the gene and, since 1989, by direct detection of the major mutation DELTA-F508 is now widely used. However, there are still some indications of prenatal diagnosis by microvillar intestinal enzymes analysis. We propose a prenatal diagnosis strategy which combines both methods. This diagnosis strategy is applied to families with a 1/4 to 1/200 risk. Screening of DELTA-F508 in the general population is discussed.