Early Amniocentesis for Cystic Fibrosis Prenatal Diagnosis

Introduction Cystic fibrosis(CF) is the most frequent monogenic disease, with a serious prognosis. In a family with amplified risk, the genetic prenatal diagnosis is the key for a healthy child. Our study aim was to detect CFTR mutations in foetal genomic DNA isolated from amniotic fluid. Material and method Twelve families, with a previous ill child with CF signed the informed consent for inclusion in the study. The DNA samples were collected by early amniocentesis in order to establish if the embryo is healthy, carrier for one CFTR mutation or ill. Genetic tests were performed using a 29 genetic CF testing kit. Results One half of our families-6 couples-had normal genotype of their fetus, while 16.3%(2 embryoes) were diagnosed with CF. 33.3% of were specific for carrier status of the fetus. F508del was the most prevalent mutation, found in 41.6% of samples, similar data being reported in CF Romanian patients. Conclusion An accurate prenatal diagnosis in cystic fibrosis requires a correct sampling technique for the amniotic fluid to prevent its contamination with blood or maternal cells, and a precise technique for DNA isolation. Mutation detection by ARMS-PCR CF29 is applicable only to those couples in which at least one of the parents is a carrier of one of the included alleles.