What Causes Cystic Fibrosis? - Marlyn Woo, MD | UCLAMDCHAT Webinars
Cystic Fibrosis Symptoms and Diagnosis
Newborn Screening for Cystic Fibrosis
Spotting signs and symptoms of cystic fibrosis is important because treatment can be started as soon as a diagnosis is made to prevent lifelong problems. Early treatment can improve a child’s long-term growth, nutrition, and respiratory function.
With the screening of newborns, cystic fibrosis can be diagnosed within the first month of life before any symptoms develop. Today, newborn screening for cystic fibrosis is performed in all 50 states, but the screening methods may differ.
One form of neonatal cystic fibrosis screening involves a blood test to detect elevated levels of immunoreactive trypsinogen (IRT), a protein released by the pancreas that is linked to the disease. (2)
If the test results are positive or if they are negative but a baby shows signs of cystic fibrosis, other tests can be performed.
A sweat test measures the levels of chloride in the sweat. (3) People with cystic fibrosis have more chloride, a component of salt, in their sweat. Chloride levels in the sweat are measured in millimoles per liter (mmol/l), the standard use for blood glucose levels
A chloride level of 29 mmol/l or less means cystic fibrosis is unlikely. Levels between 30 and 59 mmol/l indicate the disease is possible, and the test is usually repeated. Greater than or equal to 60 mmol/l means the disease is likely.
A genetic or DNA test checks for a cystic fibrosis genetic defect. Some states conduct only the IRT test, while others use both IRT and DNA testing to screen for the disease.
Video: What Is Cystic Fibrosis?
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