Author Description

Prevalence varies considerably across different ethnic groups, ranging from 1 in 2000 in Ireland to around 1 in 500,000 2 Institute of Health Economics, Screening Newborns for Cystic Fibrosis, Febuary 2007 in Japan.9 The heterogeneous nature of the condition to some extent reflects the large number of mutations that can affect the CFTR gene and the impact of other gene modifiers.10 CF is the secon [...] The improved diagnostic validity is particularly relevant to specificity since in Institute of Health Economics, Screening Newborns for Cystic Fibrosis, Febuary 2007 11 view of the low prevalence of the disease, a small improvement in specificity means a substantial reduction in the number of false positives. [...] The author concluded that comparison of the two screening protocols in terms of sensitivity in detecting CF patients demonstrated that the IRT/DNA/IRT protocol is more effective because it is able to detect a higher number of CF infants and CF carriers than the IRT/IRT protocol. [...] The main advantage of the IRT/PAP protocol is that it does not require DNA analysis, thereby avoiding all of the drawbacks of molecular biology (need for informed consent, unwarranted detection of carriers, and detection of borderline forms of CF). [...] In general, populations of different ethnic origin may differ in terms of the incidence of CF, levels of IRT in normal infants, and the frequency distribution of the CFTR mutations, all of which will influence the sensitivity and specificity of the screening protocols.