A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Background Cystic Fibrosis (CF) is one of the most common autosomal recessive genetic disorders, with the majority of patients born to couples unaware of their carrier status. Carrier screenings might help reducing the incidence of CF. Methods We used a semi-automated reverse-dot blot assay identifying the 47 most common CFTR gene mutations followed by DGGE/dHPLC analysis. Results Results of a 10-year (1996–2006) CF carrier screening on 57,999 individuals with no prior family history of CF are reported. Of these, 25,104 were couples and 7791 singles, with 77.9% from the Italian Veneto region. CFTR mutations were found in 1879 carriers (frequency 1/31), with ΔF508 being the most common (42.6%). Subjects undergoing medically assisted reproduction (MAR) had significantly (p < 0.0001) higher CF carrier frequency (1/22 vs 1/32) compared to non-MAR subjects. Conclusions If coupled to counselling programmes, CF carrier screening tests might help reducing the CF incidence.