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Understanding Cystic Fibrosis -- Diagnosis and Treatment

How Is Cystic Fibrosis Diagnosed?

Diagnosing cystic fibrosis in an unborn baby is possible through genetic testing. The National Institutes of Health recommends that genetic testing for cystic fibrosis be offered to all expectant couples or those still planning a pregnancy, especially if they have a family history of the disease.

Every state now screens newborns for cystic fibrosis. Blood testing will show whether your baby's pancreas is functioning the way it should.

Understanding Cystic Fibrosis

Find out more about cystic fibrosis:



Diagnosis and Treatment

A child who shows poor growth and has repeated lung or sinus infections or both may have cystic fibrosis. The standard test for cystic fibrosis is the quantitative sweat chloride test, or "sweat test," which measures the amount of salt in the sweat.

The sweat test is difficult to do in newborns because they do not sweat. For newborns, an immunoreactive trypsinogen test (IRT) may be used instead. This test involves drawing blood and looking for a specific protein called trypsinogen. A positive IRT test may be confirmed at a later date with genetic testing or a sweat test.

Other tools that help with diagnosis include chest X-rays and lung function tests, which may show lung problems common in cystic fibrosis. Tests of stool samples may show digestive problems.

What Are the Treatments for Cystic Fibrosis?

Treatment for cystic fibrosis focuses on both lung health and digestion.

Treating Lung Problems
Doctors will focus on preventing lung infections. Daily chest physiotherapy (CPT), also known as percussion and postural drainage, helps to loosen mucus in the lungs and helps with coughing. During CPT, the person is put into a position that helps drainage, and then all areas of the lungs are "percussed" by clapping on the person's back with a cupped hand. Family members can perform CPT on small children, while older children and young adults can learn to do it themselves. CPT is usually performed twice a day, though it may be done more frequently when the person has an active lung infection. Treatments using vibrating vests are also being widely used and appear to be better in many children, though expensive.

Regular exercise also helps to loosen and move secretions and maintain lung and heart fitness.

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