Cystic Fibrosis Diagnosis

By Anne Martront

With advancements and developments in genetic and newborn testing, Cystic Fibrosis diagnosis is occurring increasingly early and allowing patients, families and doctors to get a jump-start on keeping people with a Cystic Fibrosis diagnosis living a high-quality life.

A Cystic Fibrosis diagnosis can be made in unborn babies by identifying mutations in the Cystic Fibrosis Transmembrane Conductance Regulator, or CFTR gene. Most people who do not have Cystic Fibrosis have two working copies of the CFTR gene, although only one working copy is necessary to prevent the disease. A Cystic Fibrosis diagnosis is made when it is determined that neither copy of the gene is functioning normally. However, because fetal tests carry a risk of death, it is likely that the parents will be tested to determine the risk factor instead of the fetus being tested for a definitive diagnosis.

In the United States it is estimated that ten percent of all the Cystic Fibrosis diagnosis comes courtesy of newborn screening. Newborn screening can make a Cystic Fibrosis diagnosis based on decreased levels of the enzyme tryspin. However, because newborn screening is not yet routine, Cystic Fibrosis diagnosis is usually made after other symptoms present themselves. In newborns it is usually the inability to pass fecal matter that registers as a warning sign.

Cystic Fibrosis Diagnosis

Sweat testing is the most common means of obtaining a Cystic Fibrosis diagnosis. For sweat testing, a sweat-stimulating medication is applied to one electrode while an electrical current is run to a separate electrode on the skin. The sweat is then collected and tested for abnormal amounts of sodium and chloride.

After a Cystic Fibrosis diagnosis has been made, the long journey to dealing with this early-onset, life-shortening disease.