Cystic Fibrosis

Cystic fibrosis is one of the most common genetic disorders in the United States. It is associated with breathing problems, recurrent lung infections, as well as problems with digestion. There are medications that can be given to help but even with treatment, this condition causes life-long illness and a shortened life expectancy. Cystic fibrosis does not affect intelligence or physical appearance.

Cystic fibrosis is a genetic disorder that results from mistakes/changes in a certain gene. All genes come in pairs, one from the mother and the other from the father. Cystic fibrosis is present only when an individual inherits two changed (abnormal) genes, one from each parent. When an individual has one changed gene and one normal gene, the person is a carrier. No significant health problems are caused from being a carrier of cystic fibrosis. Unless someone has had testing they will never know they are a carrier. The chance an individual is a carrier depends on their family history and ethnic background. You can be a carrier even if no one in your family has cystic fibrosis.

If no one in your family has cystic fibrosis, then your risk of being a carrier is:

1 in 25 for non-Hispanic Caucasians
1 in 46 for Hispanics
1 in 65 for African Americans
1 in 90 for Asians

If a relative has cystic fibrosis or is a carrier, then your risk of being a carrier is much higher.

Both parents must be carriers of cystic fibrosis for them to have a child with cystic fibrosis. A test is available that will identify most carriers. If both parents are found to be carriers of the cystic fibrosis gene then there is a 1 in 4 (25%) chance the fetus (unborn baby) will have cystic fibrosis. These couples should consider prenatal diagnosis (CVS, amniocentesis). Cystic fibrosis cannot be treated before birth. The purpose of the testing prior to birth is to allow couples to make decisions regarding the pregnancy and prepare for the birth of a child with special health care needs. Diagnosis of cystic fibrosis in pregnancy leads to earlier treatment in infancy and may improve the outcome of the child.

Testing cannot identify all carriers, however, the chance a person is a cystic fibrosis carrier after a negative test is very small.

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