Couples who are CF carriers should be referred for genetic counselling if they are planning a pregnancy or in the first trimester of pregnancy.3
Children suspected of having CF (who have not been previously identified through newborn screening tests) should be referred to a paediatrician for a sweat test. Symptoms may include recurrent cough, failure to thrive, lower respiratory tract infection, bronchiectasis and/or rectal prolapse.
Males presenting with infertility due to congenital bilateral absence of the vas deferens (CBAVD) may have an atypical form of CF. Refer the patient to a fertility specialist.4