Cystic Fibrosis Carrier Screening

Cystic Fibrosis (CF) is a life-threatening condition affecting the ability to secrete mucus fluids normally. Individuals with CF commonly have problems with the lungs, digestive system and reproductive system. They often suffer from pulmonary infections and organ damage due to difficulty in clearing secretions. The severity of CF varies from person to person. CF does not affect intelligence, appearance or development. There is no cure for CF currently. The average life expectancy of a person with CF is 30 years, but children born with CF today may live longer as treatments improve.

What is a CF Carrier?

People who receive one normal cystic fibrosis gene and one abnormal cystic fibrosis gene are called CF carriers. They do not have the disease but have a 50% chance of passing the abnormal gene on to their child. In order for the child to be born with cystic fibrosis, he or she would need to inherit an abnormal gene from both parents.

What is CF Carrier Screening?

Cystic fibrosis (CF) carrier screening is a genetic test that lets you know what your risk is for carrying an abnormal gene, as well as what your chances are of having a child with CF.

How is CF Carrier Screening Done?

Your blood will be drawn and sent to the laboratory for testing. Additional information regarding family history, your race and ethnicity and your personal history will be provided to the lab. This additional information is essential to aid in the interpretation of the blood results.

What Does a Negative Screen Mean?

A negative screen does not guarantee that you are not a carrier. This test detects only the most common changes in the CF gene.

What Does a Positive Test Mean?

A positive screen means that the laboratory found a change in one of your two CF genes and that you are a carrier. There is a 50% chance that you will pass this gene to your child. With a positive finding, we recommend that your partner be screened for CF carrier status. Additional testing will be recommended as needed based on the results.

The decision to be tested is yours. Some insurance companies may not cover the test. If you are interested in more information on cystic fibrosis please talk with your health care provider at your next appointment.