Cystic fibrosis

Autosomal recessive disease – affecting lungs, pancreas, GI system
Recurrent chest infections, failure to thrive, malabsorption
1/25 Caucasian people are carriers
Data gathering
Clinical management
Genetic testing of parents – blood test or mouth scrapings
Antenatal testing – CVS (10-13 weeks), only for those at high risk
After birth testing – heel prick on day 5, sweat test if older
Explanation – two CF genes need to be inherited, the CF gene is responsible for how cells handle salt, water, mucus so mucus ends up being thicker than normal and the body has trouble clearing this from the body hence digestive and lung problems
If both parents have CF gene, refer for genetic counselling