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Indiana State Department of Health

Genomics Program Home > Cystic Fibrosis Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (also called CF) is a condition that most commonly causes frequent respiratory infections and digestive problems.  Babies with CF may have trouble gaining weight and may have extra salt in their sweat. They also have thick mucus which is more difficult to cough up.

CF is an inherited (passed from parent to child) condition. Everyone inherits two copies of the CF gene (one from our mothers and one from our fathers). A gene is a set of instructions that tells our bodies how to grow and develop.  Sometimes these genes have changes (also called mutations) that prevent them from working correctly.  People with CF have two gene changes. People with one CF gene change are called “carriers.”  Carriers do not have CF, but have a higher chance of having a child with CF.

Why was CF included in Indiana’s newborn screen?

CF was added to Indiana’s newborn screen on October 1, 2007. Including CF in the newborn screen means that most children with CF will be diagnosed within the first month of life. Without newborn screening, most children with CF are diagnosed at an average age of 4 years. Children who have a positive CF newborn screen will receive treatment earlier, thereby greatly improving their quality of life.

How is CF newborn screening done?

Before babies go home from the nursery, they have a small amount of blood taken from their heel to test for a group of conditions. One of these conditions is CF. Newborn screening for CF includes measuring the level of a protein called immunoreactive trypsin (also called IRT) in a baby’s blood. If a baby has a high level of IRT, a DNA test is done. Indiana’s newborn screen tests for 43 of the most common CF gene changes. However, there are over 1,400 gene changes that are known to cause CF.  For more information on newborn screening click here

It is important for parents to understand that newborn screening cannot identify every child with CF. Babies who screen positive for cystic fibrosis need further testing to confirm they have cystic fibrosis. Not all babies with a positive newborn screen will have cystic fibrosis.

Family Information Sheets

Newborn Screening Overview  (en español)

Newborn Screen Positive for One Gene Change (en español)

Newborn Screen Positive for Two Gene Changes (en español)

Family Resource Sheets for Sweat Chloride Testing:

  1. Deaconess Hospital (en español)
  2. Lutheran Hospital (en español
  3. Riley Hospital (en español)
  4. St. Joseph Regional Medical Center, South Bend (en español)

Children’s Special Health Care Services (CSHCS) Fact Sheet

Cystic Fibrosis Resources

Family Video about Cystic Fibrosis Newborn Screening

Cystic Fibrosis Foundation

March of Dimes and Cystic Fibrosis

For a list of resources for families of children with newborn screening conditions, please click here.

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