Cystic Fibrosis Carrier Screening

What Is Cystic Fibrosis?

Cystic fibrosis (CF) is an inherited disease caused by a change (mutation) in the cystic fibrosis transmembrane regulator (CFTR) gene. It is a chronic, progressive disease that causes mucus to become thick and sticky. The mucus builds up and clogs passages in many of the body's organs, but primarily in the lungs and the pancreasClick here to see an illustration.. In the lungs, the mucus can cause serious breathing problems and lung disease. In the pancreas, the mucus can cause digestive problems and malnutrition, which can lead to problems with growth and development.

Cystic fibrosis is usually diagnosed during childhood. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.


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Author: Debby Golonka, MPH
Ralph Poore
Last Updated: August 20, 2007
Medical Review: Michael J. Sexton, MD - Pediatrics
Susanna McColley, MD - Pediatric Pulmonology
Andrew Swan, MD, CCFP, FCFP - Family Medicine

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Topic Contents
Arrow PointerWhat Is Cystic Fibrosis?
 What Causes Cystic Fibrosis?
 What Is Carrier Screening?
 Who Should Be Screened?
 What If I Am a Carrier?
 Is Screening Accurate?
 Should I Be Screened?
 Why Not Be Screened?
 Other Places To Get Help
 Related Information
 References
 Credits