• 1st Trimester Genetic Risk Assessment
• Maternal Screening
• Chorionic Villous Sampling
• Genetic Amniocentesis
• Cystic Fibrosis Carrier Screening
• Integrated Prenatal Screening

Cystic Fibrosis Carrier Screening

Cystic Fibrosis (CF) is a life-long illness that is usually diagnosed in the first few years of life. The disorder causes problems with digestion and breathing. Cystic Fibrosis does not affect intelligence or appearance. Symptoms of CF can be treated. But, they can grow worse over time and become more difficult to treat. Average life expectancy is in the 30’s. There is no cure for Cystic Fibrosis.

What causes Cystic Fibosis?

CF is a genetic disorder. It results when two healthy parents each carry a gene for CF and each pass on their CF gene to their child. This is an autosomal recessive condition, which means that one must inherit two copies of the gene to be affected.

What is the chance of being a CF carrier?

Ethnicity/Race	Chance of Being Carrier	Chance Both Carriers
White	1 in 29	1 in 841
Hispanic American	1 in 46	1 in 2,116
African American	1 in 65	1 in 4,225
Asian American	1 in 90	1 in 8,100

There are well over 25 different mutations (changes in the CF gene) responsible for most cases of CF in whites. However, since not all CF mutations are known you could still be a carrier even if your test results are normal. The chances of this are very low.

If you are found to be a carrier, your partner should then be tested. Remember you both need to be carriers in order to be at increased risk to have an affected child. If you are both carriers, your risk to have a child with CF is 1 in 4. In that case you may wish to have genetic counseling to find out more about additional testing which can be done during pregnancy to test for CF in your baby.

The testing is completely up to you. Reasons not to be tested include:

• If CF does not seem like a very serious disorder to you
• If the chance of being a carrier seems low
• If you would not consider having prenatal diagnosis to help you decide about pregnancy termination or preparing for the birth of a baby with CF
• Because the test is not perfect and will not identify all carriers
• Because the cost of testing is not covered by your insurance company

For more information on CF, talk with your health care provider or visit the Cystic Fibrosis section of Medline Plus, a web-based informational site run by the NIH.

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Last Updated:
4/12/07