Children with CF are born of two parents carrying a CF mutation, who have a 1 in 4 risk of having a child with CF for each pregnancy. Testing for CF mutations and finding most CF carriers is nowadays possible, so that people can be informed of their risk of having an affected child. In the latest years the offer of an almost free of charge CF carrier test to individuals and couples with no affected relatives (carrier screening) has been widely practiced in part of north‐eastern Italy (Eastern Veneto), and that has led to a reduction in the number of births of babies with CF.
This study will continue and complete the previous FFC 8/11 project by collecting data on the number of carriers and carrier couples detected and on the correlation between these data and both disease incidence and newborn screening performance. In addition, information on the behaviour of couples of carriers identified by the screening system will be collected. This will allow to understand better if and how the reproductive choices of these couples affect the number of CF births.