What is Cystic Fibrosis?
Cystic Fibrosis (CF) is an inherited disease that affects more than 25,000 American children and young adults. CF is a multi-system disease resulting from the accumulation of thick mucus. Symptoms of CF vary, but include lung congestion, pneumonia, diarrhea, and poor growth. Most people with diagnosed CF have severe medical problems, although recently milder forms have been identified. Median survival for classical CF is 31 years. CF does not affect intelligence. There is no known cure for CF at this time. Scientists are making progress in improving treatment and in searching for a cure.
What is the difference between being a carrier and having the disease?
Carriers have one working copy and one non-working copy of the CF gene. People with CF have two non-working copies of the CF gene. Most people have two working copies of the CF gene. There are more than 900 CF gene mutations identified at this time. Carrier rates vary by ethnic background.
Is there a chance my baby could have Cystic Fibrosis?
You can have a child with CF even if there is no known history of CF in your family. The approximate risk that a couple with NO family history of CF will have a child with CF varies based on ethnic background. Risk status can only be determined with CF testing. It is important to understand that carrier testing does not detect all CF mutations or carriers. If both parents are carriers. there is a one in four (25%) chance, with each and every pregnancy, that the child will have CF. The couple does not have to have the exact same mutation.
How is Carrier Screening done?
Carrier screen can be done with a blood test. It is a one-time genetic test: and will never need to be repeated.
How much does Carrier Screening cost?
Cost and insurance coverage for CF carrier testing vary depending on your insurance policy coverage, co-pay, and/or deductibles. Many insurance companies are covering the cost of CF testing. If you are unsure of your policy you should contact your insurance company.
What if I am a CF Carrier?
Your spouse or partner can be tested for carrier status. If indicated, your baby can be tested for CF before it is born with an amniocentesis. Genetic counseling and pediatric specialist consultation are available.