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Updated: Dec 22, 2025
Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis
Published on: June 10, 2022
The true panel of cystic fibrosis mutations in the Sicilian population
Sandrine Chamayou1, Maria Sicali2, Debora Lombardo2
1Unità di Medicina della Riproduzione - Centro HERA, via Barriera del Bosco n. 51/53, 95030, Catania, Sant'Agata Li Battiati, Italy. s.chamayou@yahoo.fr.
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. Twenty-four mutations were found. Theoretically one couple out of 256 was at risk of CF transmission.
Conclusions:
The risk of CF transmission is unexpectedly high in Sicily and with a high heterogeneity. Sequencing an entire and long gene such as CFTR makes accessible the true panel of mutations in a specific population and helps better to understand the true risk of having an affected child.
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