Cystic fibrosis (CF) has an estimated prevalence of ~1 in 3,000. The most common associated complications are chronic lung disease, exocrine pancreatic insufficiency and male infertility. CF is an autosomal recessive disorder and it is estimated that ~1 in 20 of us are carriers of CF.
Being a carrier of CF is not expected to have any implications for health, but it may have reproductive implications. We do not see patients for CF carrier testing in the Genetics service, unless there are additional issues. Where both partners are found to be carriers of CF, the couple can be referred to Clinical Genetics to discuss reproductive options (e.g. preimplantation genetic testing).
Non-genetic specialists (including GPs) can request CF carrier testing on Ice. It is imperative to state the name and details of the patient’s known affected relative.