PROBLEMS RELATED TO NEONATAL SCREENING AN D MOLECULAR DIAGNOSIS OF CYSTIC-FIBROSIS

The following topics are discussed in this consensus document on the p roblems arising from molecular analysis of cystic fibrosis (CF): a) ne onatal screening: the application; of DNA analysis in the neonatal scr eening for CF implies that same heterozygotes are going to be identifi ed; pre-testing and post-testing informations need to be accurate and widespread the possibility of withdrawing from being tested has to be guaranteed; b) population heterozygote screening: the insufficient sen sitivity of the molecular test the incomplete definition of the genoty pe-phenotype correlations, the high costs, the relevance of psycho-soc ial effects, the lack of laboratory quality control programs are all ; points against a policy of a population screening of the italian popul ation; c) carrier testing: this is at present : performed and should b e offered to relatives of CF patients or heterozygotes (''cascade scre ening''); partners of subjects found to be positive should also be tes ted The test should be preferably performed before pregnancy to allow a wider variety of options; we advice against testing in children due to is purely reproductive significance; d) prenatal diagnosis: it has a well defined role for couples with a 1:4 risk; on the contrary, the offer of prenatal diagnosis to intermediate risk couples should be dis couraged in view of the impossibility to obtaine conclusive results in these cases.