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CYSTIC FIBROSIS TESTING

Cystic Fibrosis (CF) is a common disease in the Caucasian population, especially those of Ashkenazi Jewish ancestry (see table below). Those with CF suffer from lung and intestinal problems. Their life expectancy is shorter, and they usually require lifelong medical care. In 1989, the gene responsible for CF was identified, making screening possible. 
 
To screen for CF, all that is required is a blood sample. Testing is voluntary, but it is now recommended that CF screening be offered to couples in whom one or both partners is Caucasian, and are planning a pregnancy or seeking prenatal care. The test is also available to those of other racial backgrounds who are at lower risk who desire testing. Testing should be preformed during the first trimester of pregnancy or earlier if possible.
 
Ethnic Group
Incidence of CF
Carrier Risk
Caucasian
1/3,300
1/29
Hispanic
1/8,000-9,000
1/46
African American
1/15,300
1/62
Asian American
1/32,100
1/90
 
CF is inherited in an autosomal recessive fashion. This means that that both partners have to be carriers of at least one copy of the abnormal gene in order to produce a child that has CF. Carriers do not have any symptoms of the disease. If your test shows that you are a carrier for CF, the next step is to test your partner. If both members of a couple are carriers for CF, there is still only a 25% chance of producing a child affected by CF. Pregnant couples who are at increased risk will be referred to the Perinatal Center for genetic counseling and to discuss further options, which may include an amniocentesis. 
 
 
 





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