Cystic Fibrosis Information
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 in their lungs 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 and survival.
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, so newborn screening cannot detect them all.
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 called sweat test to confirm they have cystic fibrosis. Not all babies with a positive newborn screen will have cystic fibrosis; some of them may be carriers.
If an infant is diagnosed with CF, it is recommended that he or she be followed at a CF Care Center accredited by the CF Foundation. CF Care Centers provide multidisciplinary care for children and adults with CF and must meet certain requirements for accreditation by the CF Foundation. More information on CF Care Centers and locations in Indiana can be found at www.cff.org
Family Information Sheets
Family Resource Sheets for Sweat Chloride Testing:
- Deaconess Hospital (en español)
- Lutheran Hospital (en español
- Riley Hospital (en español)
- St. Joseph Regional Medical Center, South Bend (en español)
Cystic Fibrosis Newborn Screening Follow-up Program
The Indiana State Department of Health has partnered with Indiana University School of Medicine’s Department of Medical and Molecular Genetics to perform follow-up services on abnormal cystic fibrosis newborn screening results. Contact information for the current program coordinator is below.
Melissa Wesson, MS, CCRP,
Cystic Fibrosis NBS Follow-up Coordinator