EARLY PRENATAL DIRECT GENE DIAGNOSIS OF CYSTIC-FIBROSIS IN A TWIN PREGNANCY AND SUBSEQUENT SELECTIVE TERMINATION

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11-12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at t he age of 2 1/2 months. The parents were both known to be carriers of the del F508 mutation. Chorionic villus sampling (CVS) was performed a nd direct gene analysis showed that one fetus was homozygous for the D elta F508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was su bsequently performed. The pregnancy continued without complications ex cept for mild pre-eclampsia at term. The woman had a Caesarean section . The genetic diagnosis was confirmed after birth.