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Cystic Fibrosis

What is Cystic Fibrosis?

Cystic fibrosis (CF) is a life threatening illness and is one of the most common inherited diseases, affecting approximately 1 in 3500 births in the United States. Cystic fibrosis results in abnormally thick mucus which causes abnormal breathing, recurrent lung infections, and digestive disorders. Most males with cystic fibrosis are infertile. Average life expectancy with current therapies is approximately 30 years.

How is cystic fibrosis inherited?
Cystic fibrosis is a genetic disorder caused by mutations, or alterations, of the cystic fibrosis gene. All genes come in pairs. In order to develop cystic fibrosis a person must have two mutated (abnormal) copies of the cystic fibrosis gene, one inherited from the mother and one from the father.

What is a cystic fibrosis carrier?
If a person has one normal copy and one abnormal copy of the cystic fibrosis gene, he/she will not develop cystic fibrosis, but is a carrier for the disease. When both parents are cystic fibrosis carriers, their children are at risk for both inheriting and developing cystic fibrosis.

Why should potential parents be screened for cystic fibrosis?
If both you and your partner are carriers, there is a 1 in 4 (25%) chance that your child will inherit two cystic fibrosis-causing genes (one from each parent) and will develop cystic fibrosis; and a 1 in 2 (50%) chance that your child will be a CF carrier. In the event that both partners are CF carriers, genetic counseling is recommended to plan how to manage any current or future pregnancies.

How does ethnicity relate to cystic fibrosis?
People of all ethnicities may be cystic fibrosis carriers. However the risk that a person is a CF carrier varies by his/her ethnicity:

European Caucasian 1 / 25
Ashkenazi Jewish 1 / 24
Hispanic American 1 / 58
African American 1 / 61
Asian American 1 / 94

When should I have cystic fibrosis carrier screening performed?
It is recommended by the American College of Gynecology (ACOG) and American College of Medical Genetics (ACMG) that all couples considering pregnancy be offered cystic fibrosis carrier screening.

How is screening done?
A small amount of blood is taken from one of your veins and tested for the 23 most common mutations that cause cystic fibrosis. Test results are usually available within one to two weeks.

What does a positive result mean?
A positive result means that you are a carrier for one of the 23 mutations tested for in the ACOG/ACMG-recommended cystic fibrosis carrier screening panel. To assess the risk of your child inheriting and developing CF, your partner should also be screened.

What does a negative result mean?
A negative result means that your chances of passing CF to your children are very small. Because the carrier screening test includes only the most common mutations, there is still a slight chance that you may be a carrier for one of the rare mutations even if your screening test is negative.

Does my partner need to be screened forcystic fibrosis too?
You may choose to have your partner screened at the same time, or elect to have your partner screened only if you receive a positive CF carrier screen result.

Is CF Screening reimbursable?
CF screening is covered under most insurance plans, including Medicare. Please consult your physician for more information.