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Cystic Fibrosis DiagnosisNewborns and infants who exhibit the early symptoms of cystic fibrosis are usually tested for the disease. Early symptoms include: - Poor growth
- Recurrent gastrointestinal or respiratory problems
- Salty sweat
Babies with a mild form of cystic fibrosis often seem healthy at birth and don't start developing symptoms until they reach childhood or their teenage years. Studies have shown that routine cystic fibrosis screening of all newborns would enable children to be diagnosed and treated for the disease an average of one year earlier than waiting for symptoms to develop. The Centers for Disease Control and Prevention (CDC) and the Cystic Fibrosis Foundation recommend that all states routinely screen for cystic fibrosis in all newborns. Diagnostic TestsThe following tests are used to diagnose or monitor the progress of cystic fibrosis. People are advised to meet with a genetic counselor afterwards to understand their test results. Sweat TestThe sweat test is the standard diagnostic test for cystic fibrosis. It is the easiest and most accurate test for the disease. People with cystic fibrosis have high levels of salt in their sweat. The sweat test measures the amount of chlorine (a component of salt) in a person's sweat. Because newborns may not produce enough sweat, they are often tested a few months after birth. The more costly genetic test may be used at birth for children suspected of having the disease. Genetic testThe genetic test is used when the results of a sweat test are unclear. In May 2005, the U.S. Food and Drug Administration (FDA) approved the first DNA-based blood test to help detect cystic fibrosis. The Tag-It Cystic Fibrosis Kit directly analyzes human DNA (deoxyribonucleic acid) to find genetic variations indicative of cystic fibrosis. A blood sample or cells from the inside of a person's cheek is tested for the various mutations of the CFTR gene. Testing for all mutations would be too expensive and time consuming. As a result, false negatives are possible and a negative test result does not rule out the possibility of cystic fibrosis for people with rare mutations of the gene. Early ScreeningBecause cystic fibrosis is an inherited disease, close relatives of people who have cystic fibrosis might be carriers of the disease. People with a relative who either has cystic fibrosis or is a known carrier of the disease may decide to be tested. Spouses of people who test positive may also decide to be tested. Prenatal screening to determine if a developing baby will develop cystic fibrosis is an option for couples who both test positive. Genetic counselors help people understand their test results and the options available to them, and answer any questions they may have. Carrier TestCarrier testing determines if a couple is at risk of giving birth to a child with cystic fibrosis. A laboratory test is performed on a sample of their blood or saliva. False negatives are possible, because carrier testing cannot detect all of the defective gene mutations. In rare cases, a cystic fibrosis carrier may have a normal test result, although it's highly unlikely that both parents will have false negative test results. Prenatal TestPrenatal testing can only determine if a developing baby will have cystic fibrosis. The prenatal test is performed at the 11th week or 16th week of pregnancy, and has a slight risk of injury to the developing baby. Unfortunately, prenatal testing cannot determine the severity of cystic fibrosis after birth. Although prenatal treatment for a developing baby who tests positive is not yet available, the test does provide family members with time to consider their plans for the future.
Health MonitoringBecause cystic fibrosis is a chronic condition that affects many organs of the body, the following tests are used to monitor health and adjust therapy accordingly. Respiratory System Tests- CT scan
A chest CT scan (computed tomography scan) produces cross-sectional computerized images of the chest that can show if there is any inflammation and scarring. CT scans are often used to investigate any abnormalities identified by X-rays. CT scans are also called CAT or computerized axial tomography scans. - Lung function test
Lung function tests determine the health of the lungs by examining its ability to move air into and out of the body. People breathe into a spirometer, which measures the volume of air entering and leaving their lungs. A lung function test is also called a pulmonary function test or spirometry test. - Sputum culture
Sputum is the material coughed up from the lungs, mixed with saliva, and then spit out. Culturing sputum from the lungs identifies which microorganisms are causing a lung infection. Additional testing is then performed to determine which antibiotic to use to treat the infection. - X-rays
A chest X-ray produces pictures of the lungs that can show if there is any inflammation or scarring. It also identifies the presence of any air in the cavity outside of the lungs (pneumothorax).
Digestive System Tests- CT scan
A CT scan is used to diagnose problems in the digestive system organs, such as the pancreas and liver. - Glucose test
Glucose tests measure the concentration of glucose (sugar) in a person's blood or urine. The test is used to diagnose diabetes. - Pancreatic function test
The pancreatic function test measures the ability of the pancreatic juices to reach the small intestine and aid digestion. - Stool analysis
The stool analysis measures the amount of fat and digestive enzymes in a person's stool. - Upper gastrointestinal and small bowel series
The upper gastrointestinal and small bowel series tests identify structural and functional abnormalities in the esophagus, stomach, and small intestine.
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