Abstract
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.
Original language | English |
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Pages (from-to) | 931-935 |
Number of pages | 5 |
Journal | Rivista Italiana di Pediatria |
Volume | 23 |
Issue number | 5 |
Publication status | Published - 1997 |
Keywords
- Carrier testing
- Cascade testing
- Counselling
- Cystic fibrosis
- Heterozygote screening
- Neonatal screening
- Prenatal diagnosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health