What is Cystic Fibrosis?
Cystic fibrosis is a genetic disorder caused by mutations in the CFTR gene. These mutations lead to the production of thick, sticky mucus that can clog the lungs and block the pancreas, affecting breathing and digestion. CF is inherited in an autosomal recessive pattern, meaning a child must inherit two defective copies of the gene (one from each parent) to develop the disease.
Key Features
- Affects the lungs, digestive system, and sometimes the reproductive system
- Caused by a defect in the CFTR protein, which regulates salt and water movement in cells
- Chronic and progressive condition, but treatments have significantly improved life expectancy
Common Symptoms
- Persistent cough with thick mucus
- Frequent lung infections (such as pneumonia or bronchitis)
- Wheezing or shortness of breath
- Poor weight gain and growth despite good appetite
- Greasy, bulky stools due to poor nutrient absorption
- Male infertility (in most cases)
How to Reduce the Risk
- Carrier screening before pregnancy to check if you or your partner carry CFTR gene mutations
- Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) during IVF to select embryos without CF mutations
- Prenatal genetic testing for early detection in pregnancy
- Genetic counseling to understand family history and reproductive options