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

A. Cantù Rajnoldi, C. Corbetta, A. Giunta, F. Lalatta

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)931-935
Number of pages5
JournalRivista Italiana di Pediatria
Volume23
Issue number5
Publication statusPublished - 1997

Keywords

  • Carrier testing
  • Cascade testing
  • Counselling
  • Cystic fibrosis
  • Heterozygote screening
  • Neonatal screening
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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