Genetic Counselling

The Center offers a Genetic Counselling Service to the following people:

Family members of cystic fibrosis patients or carriers
Couples where both partners are carriers of a cystic fibrosis gene mutation
Prenatal diagnosis by villocentesis (information available for pre-implantation diagnosis)
Parents with ultrasonographic evidence of hyperechogenic foetal bowel
Assisted reproduction couples with obstructive azoospermia / bilateral congenital atresia of the vas deferens in the male partner
Patients with chronic/relapsing pancreatitis, with CFTR gene variant(s): further investigation for genes involved in pancreatitis
Suspected cystic fibrosis or CFTR-related disorder