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.

It is your decision whether to have cystic fibrosis testing. Some of the reasons people have given for deciding to have cystic fibrosis carrier testing are:

• My chance of being a carrier seems high. This may be especially true in families with a history of cystic fibrosis.
• Cystic fibrosis seems like a very serious disorder to me.
• They would consider prenatal diagnosis (amniocentesis, CVS) to help them make decisions regarding the pregnancy, or help prepare for the birth of a baby with cystic fibrosis. Prenatal diagnosis would only be indicated if both parents were found to be carriers.
• Because test results are usually reassuring.
• Because the cost of testing is covered by my insurance company.

Some reasons people have given for deciding not have cystic fibrosis carrier testing include:

• My risk of being a carrier does not seem very high. This may be especially true if you are Asian or African-American.
• Cystic fibrosis does not seem like a very serious disorder to me.
• They would not consider prenatal diagnosis (amniocentesis, CVS)
• Because the test is not perfect and will not identify all carriers.
• Because the cost of testing is not covered by my insurance company.

The cost of testing is approximately $200 and may not be covered by your insurance company.

Contact your healthcare provider if you are interested in having cystic fibrosis carrier testing or have questions about testing. If you are found to be a cystic fibrosis carrier then your partner should have carrier testing.

Genetic counseling is available to women at increased risk of carrying a fetus with cystic fibrosis.