Diagnosis for cystic fibrosis can occur relatively early due to advancements in prenatal or newborn screening. Newborn screening is performed at the birth hospital and is required in all 50 states of the U.S.
The United States Department of Health and Human Services Recommended Uniform Screening Panel includes 31 disorders and the State of Florida screens for an additional 22 genetic conditions.
Elevated values of Immune Reactive Trypsinogen (IRT) with secondary testing for mutations which can cause CF, helps to identify people who need further testing for cystic fibrosis. The results are sent to the infant’s primary care provider as well as to our Cystic Fibrosis Center. From there, we will perform further testing and consultation with the family immediately.
Not every child that has been identified with an elevated IRT is diagnosed with Cystic Fibrosis. However, each infant that does have an elevated IRT or shows 1 or 2 mutations on newborn screening should be immediately evaluated at our center.
Our center will arrange for a sweat test with an office visit immediately afterwards. This office visit will allow time for us to evaluate the newborn screening information as well as sweat test results and provide genetic counseling to the family.
What is a sweat test? The sweat test is considered the gold standard for diagnosing CF. Read More.
Newborn screening for CF is done in the first 2 or 3 days after birth. Early treatment may prevent serious, lifelong problems. Read More.
Jean Polasky, BSN, RN Newborn Screening Program