Cystic fibrosis screening begins this month

All newborn babies in Illinois are now being tested for cystic fibrosis before heading home from the hospital.

March 3 was the first day all newborns across Illinois were screened for cystic fibrosis, a hereditary disease that affects mainly the lungs and digestive system, causing progressive disability. With the addition of cystic fibrosis, the state now screens for 37 metabolic and other harmful or potentially fatal inherited disorders.

“Cystic fibrosis is the most common life-shortening genetic disorder in the United States after sickle cell disease,” Dr. Damon T. Arnold, Director of the Illinois Department of Public Health said in a press release. “Newborns screened for cystic fibrosis benefit from early diagnosis and treatment, which can improve growth, lung function, reduce hospital stays and add years to life.”

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive system and other organs of the body. About 1,000 new cases are diagnosed each year in the U.S., and it is estimated 50 cases will be identified annually in Illinois.

“Research has shown that infants diagnosed with cystic fibrosis as newborns have better health than those diagnosed when they develop symptoms of cystic fibrosis,” said Dr. Susanna McColley, director, Children’s Memorial Hospital Cystic Fibrosis Center.

According to the Cystic Fibrosis Foundation, most people with cystic fibrosis are not diagnosed until they show symptoms of the disease. Early diagnosis allows for immediate intervention with specialized therapies, and these interventions have been shown to result in improved height, weight and cognitive function, and also may help maintain respiratory function, while increasing life expectancy and reducing hospitalizations.

Most babies who test positive will not actually have cystic fibrosis. According to the CFF, only a fraction of babies with an initial positive test ultimately are diagnosed with the disease. If an initial screen is positive, further tests are done to rule out or confirm a cystic fibrosis diagnosis.

Joan Eggers, OB coordinator at Perry Memorial Hospital in Princeton, said the new test is part of the PKU test, which many parents are already familiar with. The PKU test, which looks for phenylketonuria and other disorders, will now be used to look for 37 different disorders. Eggers said the cystic fibrosis test is now included and won’t require any extra testing.