Cystic Fibrosis Carrier Testing

The more you know now, the better you can prepare to care for your child.

No one likes to imagine that their unborn child may face a lifetime of health problems due to a genetic condition such as cystic fibrosis. However, you may want to know in advance if your child has a chance of being born with cystic fibrosis. Knowing ahead of time gives you the opportunity to prepare for any challenges that may lie ahead.

At Woman's, we recommend newly pregnant women or anyone considering becoming a parent get carrier tested for cystic fibrosis. There are more than 1,800 known mutations of the gene that causes cystic fibrosis. The carrier test looks for the most common disease-causing mutations.

It is important to discuss all genetic testing with a healthcare professional. At Woman's, our genetic counselors will work with you to decide if the cystic fibrosis carrier test is right for you, and explain every aspect of the test, including your results.

What is Cystic Fibrosis?

Cystic fibrosis is one of the most common inherited diseases. It causes the body to produce an abnormal amount of mucus. The mucus clogs the lungs and other organs, such as the pancreas. This can lead to lung infections and damage to the organs. There is no cure, however research is being done to help those with cystic fibrosis lead longer, healthier lives.

Who Is at Risk?

Cystic fibrosis is inherited as a recessive condition. A recessive condition means that both parents have the same abnormal gene. If a person is born with two abnormal cystic fibrosis genes, then he or she will have cystic fibrosis. The risk of having a child with cystic fibrosis increases if:

  • You have a relative who has cystic fibrosis
  • You have a relative who is a carrier
  • Both parents of the unborn child are carriers

Who Is a Carrier?

Some people have one normal gene and one abnormal gene. They are called carriers. Carriers can pass the gene to their children, but do not have cystic fibrosis.

How does the test work?

Carrier testing looks at person's genetic material, either from a blood sample or from cells scraped from the inside of the mouth. This material helps determine if a person carries a mutation of the cystic fibrosis gene.