Other Newborn ScreeningNewborn ScreeningRUSP
Cystic Fibrosis
CF
Cystic fibrosis is caused by CFTR dysfunction leading to thick secretions, chronic pulmonary disease, pancreatic insufficiency, and elevated sweat chloride. Newborn screening uses immunoreactive trypsinogen with DNA reflex or sweat chloride confirmation. Early diagnosis enables nutritional support, airway therapies, and modulator drugs that improve survival and quality of life.
- Prevalence
- Approximately 1 in 3,500 in populations of European ancestry (varies globally)
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.