Cystic fibrosis (CF) is an inherited condition that causes breathing (respiratory) difficulties and digestive problems. CF is a chronic, progressive condition that has a range of symptoms and severity.
The organs most affected by CF are the lungs and the pancreas. In the lungs, thick mucous causes breathing difficulties and can lead to chronic lung infections. Over time, this can lead to progressive loss of lung function. In the pancreas, mucous interferes with the pancreatic enzymes that help break down and digest food. As a result, people with CF may have problems with growth, weight gain, and the absorption of nutrients (sometimes called "failure to thrive" in children).
Cystic fibrosis does not cause changes in intelligence or appearance. Most often, CF develops in childhood and leads to long-term complications. It usually gets progressively worse with age. Occasionally, CF develops in adulthood with more mild signs and symptoms. (More about CF)
One in 25 Ashkenazi Jewish individuals are CF carriers. The American College of Obstetrics and Gynecology (ACOG) recommends that all couples who are pregnant or planning a pregnancy be offered CF carrier screening.
How Is Cystic Fibrosis Inherited?
The cells in our body typically contain 46 chromosomes. Each chromosome is a package that holds hundreds of genes. These genes contain the all of the blueprints for our growth and development; they are the instructions that make us who we are. All of our chromosomes (and the genes that are located on these chromosomes) come in pairs. We inherit one chromosome of each pair from our mother and the other chromosome of the pair from our father.
When there is a change in a gene (called a mutation) the instructions it contains are no longer correct and the gene cannot carry out its function. People with CF have two copies of a mutation, one copy inherited from each parent. Neither gene in the pair is working correctly, which causes the symptoms of the disease.;)
A CF carrier is a person who has a mutation in one gene of the pair. Carriers are unaffected with the disease because the properly working gene is able to compensate for the gene that contains the mutation.
When two parents are CF carriers:
- there is a 1 in 4 (25%) chance of having a child with CF,
- there is a 1 in 2 (50%) chance of having a child who is an unaffected carrier like the parents,
- and, there is 1 in 4 (25%) chance of having a child who is unaffected and is not carrier.
What This Test Tells You
This Cystic Fibrosis Panel tests for the 32 most common CF mutations, which account for 97 percent of CF mutations in people of Ashkenazi Jewish descent and people with Caucasian ancestry. This panel accounts for slightly less than 90 percent of the mutations in people with other ethnic backgrounds.
How Testing Works
Testing with DNA Direct is quick, convenient, and can be done in the privacy of your home. It can also be anonymous if you wish. How to order online and consult with our experts: DNA Direct's Expert Services
