Problematiche collegate allo screening neonatale ed alla diagnostica molecolare della fibrosi cistica

The following topics are discussed in this consensus document on the problems arising from molecular analysis of cystic fibrosis (CF): a) neonatal screening: the application of DNA analysis in the neonatal screening for CF implies that some heterozygotes are going to be identified; pre-testing and post-testing informations need to be accurate and widespread; the possibility of withdrawing from being tested has to be guaranteed; b) popoulation heterozygote screening: the insufficient sensitivity of the molecular test, the incomplete definition of the genotype-phenotype correlations, the high costs, the relevance of psycho-social effects, the lack of laboratory quality control programs are all points against a policy of a population screening of the Italian population; c) carrier testing: this is at present performed and should be offered to relatives of CF patients or heterozygotes («cascade screening»); partners of subjects found to be positive should also be tested. 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 discouraged in view of the impossibility to obtaine conclusive results in these cases.