Cystic fibrosis: prenatal diagnosis and carrier detection by DNA analysis

The analysis of restriction fragment length polymorphism (RFLP)s was used to detect 11 polymorphisms that are linked to cystic fibrosis in 42 Australian families with at least one child with cystic fibrosis. The data from all the families were fully informative in regard to the gene for cystic fibrosis (CF). Prenatal assessment was performed for 24 of these families: seven fetuses were assessed to be homozygous for cystic fibrosis, 13 fetuses were heterozygous and three fetuses were free of the CF gene. Of the seven pregnancies in which it was predicted that the infant would be affected by cystic fibrosis, two were continued electively; both have come to term and the infants each were shown to have cystic fibrosis at birth. Of the 17 pregnancies in which it was predicted that the infant would not be affected by cystic fibrosis, 13 have come to term and all the infants but one (who has not yet been followed-up) have been shown to be unaffected by cystic fibrosis at birth. The polymerase chain reaction has been used to amplify the CS.7 and KM.19 loci close to the CF gene. This procedure allows a polymorphic site in each locus to be analysed in a much shorter time (one or two days rather than 10 days) and allows the use of very small test-samples, such as dried blood on filter paper ("Guthrie blood spots"). Our observations confirm the results of overseas studies and indicate that these techniques are eminently useful for prenatal diagnosis and the detection of carriers in the vast majority of Australian families with cystic fibrosis.