Prenatal diagnosis for the cystic fibrosis mutation 1717‐1, G→A using arms

A family carrying two cystic fibrosis mutations, delta F508 and 1717‐1,G→A, requested prenatal diagnosis. In order to eliminate the need for labelling of allele‐specific oligonucleotides and to simplify the analysis, 1717‐1,G→A was detected using an ARMS (amplification refractory mutation system) method (Newton et al. , 1989). Fetal DNA was obtained by chorionic villus sampling (CVS) and the ARMS technique was used to exclude the 1717‐1,G→A mutation. The fetus was found to be heterozygous for the delta F508 mutation. ARMS is a simple, quick, non‐radioactive method suitable for detecting DNA mutations in various clinical situations.