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 |
|---|---|
| Pages (from-to) | 931-935 |
| Number of pages | 5 |
| Journal | Rivista Italiana di Pediatria |
| Volume | 23 |
| Issue number | 5 |
| Publication status | Published - 1997 |
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Keywords
- Carrier testing
- Cascade testing
- Counselling
- Cystic fibrosis
- Heterozygote screening
- Neonatal screening
- Prenatal diagnosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Problematiche collegate allo screening neonatale ed alla diagnostica molecolare della fibrosi cistica. / Cantù Rajnoldi, A.; Corbetta, C.; Giunta, A.; Lalatta, F.
In: Rivista Italiana di Pediatria, Vol. 23, No. 5, 1997, p. 931-935.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Problematiche collegate allo screening neonatale ed alla diagnostica molecolare della fibrosi cistica
AU - Cantù Rajnoldi, A.
AU - Corbetta, C.
AU - Giunta, A.
AU - Lalatta, F.
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
KW - Carrier testing
KW - Cascade testing
KW - Counselling
KW - Cystic fibrosis
KW - Heterozygote screening
KW - Neonatal screening
KW - Prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=33748013741&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33748013741&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:33748013741
VL - 23
SP - 931
EP - 935
JO - Rivista Italiana di Pediatria
JF - Rivista Italiana di Pediatria
SN - 0392-5161
IS - 5
ER -