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Carrier Testing for Cystic Fibrosis:

Straightforward answers to
important questions

Cystic fibrosis (CF) is the most common inherited condition in Caucasians.  CF occurs in 1/2,500 Caucasian children and less frequently in other ethnic groups.  In most cases, there is no family history of CF.
What is cystic fibrosis?
CF is a condition in which mucous is abnormally thick because of an abnormality in the CFTR gene.  This results in reduced ability to fight respiratory infections and, ultimately, loss of lung capacity.  In addition, many affected individuals are unable to digest fats because of a poorly functioning pancreas.  Although longevity has increased as treatment advances have occurred, the average life expectancy for individuals with CF is 35-40 years.  Males with CF are nearly always infertile.  Affected individuals have normal intellectual abilities.  There are milder forms of CF, one of which causes absence of the vas deferens and infertility in men, but no lung disease.  Occasionally an individual with CF has very mild lung disease and few other medical problems.
How is it inherited?
CF is inherited in an autosomal recessive manner.  This means that males and females are equally likely to be affected and that both parents must be carriers of CF to have an affected child.  Approximately 1 in 25 Caucasians are CF carriers.  CF carriers have no manifestations of CF and no health problems related to being a CF carrier.  When both parents are CF carriers, there is a 25% chance in each pregnancy for the baby to be affected with CF.
Who should be offered CF carrier screening?
Genetic consultation, ideally prior to conceiving, or as early as possible after a pregnancy is recognized, can be helpful when there is a family history of CF or if other prenatal testing is being considered.
What do I need to consider to make a decision about having testing?
How can I get more information?
Your obstetrician has written information on CF carrier testing.  If desired, he or she can refer you to a geneticist for comprehensive consultation.  The geneticist, after obtaining a complete family history and reviewing relevant medical information, will be able to discuss the genetic issues in more detail, arrange carrier testing if desired, interpret the results of genetic testing, and make recommendations for further testing and/or prenatal diagnosis.

The decision about cystic fibrosis carrier testing is yours.  This information, along with advice from health professionals, will help you make an informed decision and one that is appropriate for your circumstances.

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© 2001 The Genetics Center, Inc, All Rights Reserved.                                   This page last updated on February 7, 2013