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Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?
Author(s) -
Verlingue C.,
David A.,
Audrezet M. P.,
Le Roux M. G.,
Mercier B.,
Moisan J. P.,
Ferec C.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970131210
Subject(s) - asymptomatic , prenatal diagnosis , medicine , mutation , asymptomatic carrier , pregnancy , obstetrics , genetics , fetus , biology , gene , pathology
The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false‐negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.