title: [Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis].
abstract: BACKGROUND
  Cystic fibrosis is one of the most common genetic disorders in the Caucasian population, inherited as an autosomal recessive trait. Diagnosis of CF classifies the patient's family to the group of high genetic risk. In spite of the significant therapeutic advantages this disease is still the cause of preterm death of affected patients. One of the diagnostic tests that are offered to CF risk families is prenatal diagnostics of the disease. This kind of analysis may be performed in the first trimester of pregnancy and is based on the DNA analysis of the foetus.
  
  
  OBJECTIVE
  To sum up and analyse the results of CF prenatal diagnostic studies, in Poland, in the period 1990-2003.
  
  
  METHODS
  In total 45 tests in 38 risk families have been carried out. In case of 7 families in formative results have been obtained due to application of the polymorphic markers analysis. In the remaining cases molecular analysis of foetal DNA focused on identification of specific CFTR gene mutations has been carried out.
  
  
  RESULTS
  In 16 cases the CF genotype was identified. The disease was excluded in 29 foetuses. Some issues of genetic counselling in the context of the possibility of prenatal disease diagnosis have also been discussed.
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa. jbal@imid.med.pl
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Sobczyńska-Tomaszewska
authors.forename: Kamila
authors.initials: K
authors.lastname: Czerska
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Dorota
authors.initials: D
authors.lastname: Sands
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000032:analysis; D004247:DNA / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D011044:Poland / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA