Doctors diagnose cystic fibrosis (CF) based on the results from various tests.
Most States screen newborns for cystic fibrosis using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working.
If a genetic test or blood test suggests cystic fibrosis, a doctor will confirm a diagnosis using a sweat test. This test is the most useful test for diagnosing cystic fibrosis. It measures the amount of salt in sweat.
For this test, doctors trigger sweating on a small patch of skin on an arm or leg. They rub the skin with a sweat-producing chemical and then use an electrode to provide a mild electrical current. This may cause a tingling or warm feeling.
Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of cystic fibrosis.
If you or your child has cystic fibrosis, your doctor may recommend other tests, such as:
- Genetic tests to find out what type of CFTR defect is causing your cystic fibrosis.
- A chest X-ray. This painless test creates pictures of the structures in your chest, such as your heart and lungs. A chest X-ray can show whether your lungs are inflamed or scarred or whether they trap air.
- A sinus X-ray. This test may show signs of sinusitis, a complication of cystic fibrosis.
- Lung function tests. These tests measure the size of your lungs, how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.
- A sputum culture. For this test, your doctor will take a sample of your sputum (spit) to see what bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced cystic fibrosis that needs aggressive treatment.
If you're pregnant, prenatal genetic tests can find out whether your fetus has cystic fibrosis. These tests include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS).
In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.
In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. The doctor removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has cystic fibrosis.
Cystic Fibrosis Carrier Testing
People who have one normal CFTR gene and one faulty CFTR gene are cystic fibrosis carriers. Cystic fibrosis carriers usually have no symptoms of cystic fibrosis and live normal lives. However, carriers can pass faulty CFTR genes on to their children.
If you have a family history of cystic fibrosis or a partner who has cystic fibrosis (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a cystic fibrosis carrier.
A genetics counselor can test a blood or saliva sample to see whether you have a faulty cystic fibrosis gene. This type of testing can detect faulty cystic fibrosis genes in 9 out of 10 cases.
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