The true panel of cystic fibrosis mutations in the Sicilian population.

Background: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

Methods: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood.

Results: One patient out of 16 was a carrier of a CFTR mutation.