Cystic fibrosis (CF) is the most common autosomal recessive and potentially lethal disorder, caused by mutations in the CFTR gene. The disease’s incidence has been estimated to approximately 1 per 2700–3800 newborns in the Czech Republic, which means that every 26th–33rd individual is a healthy carrier of a mutation in the CFTR gene. Early diagnosis by the first two months of life is considered as a favourable prognostic factor. Moreover, a reliable molecular genetic analysis is able to confirm clinical diagnosis of CF. Subsequently, specialised genetic counselling is recommended. The aim of genetic counselling in CF is to provide comprehensible information about the heredity of this disease and to offer carrier testing in direct family members and/or relatives of the index case. Within the frame of preconception care we inform couples about the possibilities of CF prenatal diagnosis. The main purpose of the molecular genetic examination is to provide a choice of a healthy child, not affected by CF.

        Key words: cystic fibrosis (OMIM 219700), CFTR gene, prenatal diagnosis, postnatal diagnosis, newborn screening, mutations, variants, genetic modifiers, preimplantation genetic diagnosis