Original Article
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program

https://doi.org/10.1016/j.jcf.2011.02.006Get rights and content
Under an Elsevier user license
open archive

Abstract

Background

In Sardinia the mutational spectrum of CFTR gene is well defined. A mutation detection rate of 94% can be achieved by screening for 15 CFTR mutations with a frequency higher than 0.5%. The efficiency of this molecular test suggests that Sardinians may represent a suitable population for a preconceptional screening.

Methods

Five hundred couples of Sardinia descent were screened for 38 mutations using a semi-automated reverse-dot blot and PCR-gel electrophoresis assays. This mutation panel included the 15 most frequent CF alleles in Sardinia.

Results

We identified 38 CF carriers, revealing an overall frequency of 1/25 (4%). The most common CF allele was the p.Thr338Ile (T338I) (65%), followed by the p.Phe508del (F508del) (22.5%). We also identified one couple at risk and an asymptomatic female homozygote for the p.Thr338Ile allele.

Conclusions

In spite of the low number of the couples tested, the results herein reported demonstrate the efficacy and efficiency of the preconceptional screening program and the high participation rate of the Sardinian population (99%).

Keywords

Cystic fibrosis
Preconceptional screening
Genetic counseling
Genetic testing

Cited by (0)

1

These two authors contributed equally to this work.