Asymptomatic carrier of two CFTR mutations: Consequences for prenatal diagnosis?
- 1 December 1993
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 13 (12) , 1143-1148
- https://doi.org/10.1002/pd.1970131210
Abstract
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.Keywords
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