- It is emphasized that the frequency of CF-causing mutations, and therefore, the sensitivity of screening tests strongly depends on the ethnicity and geographical origins of individuals. The table values are given as examples for individuals of European descent who have an a priori risk (before any testing, NT) of 1/30 (Farrell 2008) and for whom the average sensitivity of the CFTR mutation screening tests is 85% (routine mutation panel test: CT) or 95% (comprehensive scanning test: ST)
- NT: no CFTR test means a priori risk; CT: commercial CFTR kit for the search of the most common CF-causing mutations (usually 50 mutations) giving a 85% sensibility (for Caucasian populations); the indicated value is the Bayesian residual risk to be a CF carrier if the test is negative; ST: comprehensive scanning CFTR test (whole-exon/flanking sequencing) giving at least 95% sensibility; the indicated value is the Bayesian residual risk to be a CF carrier if the test is negative.
- All probability values about the risk to be a CF carrier are indicated in the table on a yellow background. All probability values about the risk for the couple in having a baby with CF are indicated in the red square. Values represented in bold in the red square mean a risk higher than 1/1000
- CF-CBAVD CF patient with bilateral CAVD, iCBAVD patient with isolated bilateral CAVD, CUAVD patient with unilateral CAVD, CAVD + URA patient with CAVD and unilateral renal absence. The CF-causing mutation frequencies used for probability calculations are those indicated in Table 1.
