Cystic Fibrosis (CF), Causes, Symptoms, Treatment & Life Expectancy

Diagnosis of cystic fibrosis

Diagnosis of cystic fibrosis occurs in newborns as a part of the newborn screening. Cystic fibrosis screening occurs for all newborns in the united states, and it allows the early diagnosis and treatment of the affected children.

Newborns screening

The screening test measures the immunoreactive trypsinogen (IRT) that the pancreas releases. High IRT occurs with premature babies and stressful delivery; thus, it needs other tests to confirm cystic fibrosis.

We have two tests to confirm the condition:

• Sweat test: Doctors conduct this test when the infant is 2-weeks old. They apply a sweat-producing chemical to the skin. Then, they collect some sweat and test it for saltness. In cystic fibrosis, the sweat test reveals saltier sweat than normal.
• Genetic tests: The doctor takes a blood or saliva sample and checks it for a mutation in the CFTR gene.

Older children and adults who didn’t have screening

If your doctor suspected cystic fibrosis from medical history and physical examination, he would conduct a sweat or genetic test to confirm the diagnosis.

To detect carriers

If you have a family history of cystic fibrosis, you can do genetic tests to see if you carry the disease, which means that you may pass it to your future children.