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Cystic Fibrosis Carrier Testing

Cystic Fibrosis (CF) is a life-long illness that is usually diagnosed in the first few years of life. This disorder can cause problems with digestion and breathing. The digestive problems are usually treated with medications. The respiratory problems often require daily respiratory therapy and antibiotic treatments for frequent lung infections both at home and in the hospital. The severity of the symptoms varies from one affected individual to the next. In general, most people with DF have a shortened life span; some die in childhood, others may live into their 40's and beyond. There is no cure for the disease, but research on more effective treatments is still underway.

Cystic fibrosis carrier testing can assess if a couple is at increased risk of giving birth to a child who will have CF. It is a laboratory test done on a sample of blood or saliva. If the couple is found to be a high risk, additional testing can be done to see if the developing fetus will have CF. CF cannot be treated during pregnancy. The purpose of the test is to have the information so you can prepare yourself to care for a child with special health needs or so you can terminate the pregnancy.

Cystic fibrosis is a genetic disorder. To have the disease, a person must have a pair of abnormal genes. To be a carrier, only one abnormal gene is needed. You can be a carrier of CF even if no one in your family has CF and your prior children do not have CF. Approximately 1 out of every 30 Caucasian persons carriers the abnormal gene. Other ethnic groups have lower carrier rates. If both partners in a couple are carriers, their child has a 1 in 4 chance of having CF.

The currently available test screens for the 34 most common mutations of the CF gene. There are some mutations in the CF gene that the current test cannot find. For this result, you could still be a carrier even if your test is normal. If the test shows that you are a carrier, the next step is to test the baby's father. If both of you are carriers, specific testing of the fetus can be performed.

If you feel that you may want to be tested or want to know more information about the test, tell your healthcare provider that you are interested in learning more about CF testing. You may also want to check to make certain that the cost of CF testing is covered by your insurance company.