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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 mostly 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.

What Causes CF?

Cystic fibrosis (CF) is a genetic disorder. A child must inherit two defective CF genes (one defective gene from each parent) to have the disease.

A person who has inherited only one defective CF gene is a carrier of CF and does not have the disease but can pass it on to his or her children. This person can also pass on carrier status.

  • If only one parent is a carrier of a defective CF gene, the child will not have CF. But there is a 50% (1-in-2) chance that the child will be a CF carrier.
  • If both parents are carriers, there is a 25% (1-in-4) chance that the child will have CF, and a 50% chance that the child will be a carrier.

eMedicineHealth Medical Reference from Healthwise

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