A new clinic at the Johns Hopkins Children’s Center has opened its doors to the youngest of cystic fibrosis patients—those diagnosed with CF at birth. The need for the clinic is precipitated by a program to go into effect July 1, when Maryland officially joins the ranks of about a dozen other states where CF screening is part of the standard newborn screening panel.

A bloodspot test currently used to screen for 32 genetic metabolic disorders will be also used to help detect CF, an inherited condition marked by the cells’ inability to effectively transport chloride. In CF, this defect causes buildup of thick, sticky mucous mainly in the lungs and the pancreas leading to malabsorption, malnutrition and susceptibility to bacterial infections in the lungs. About 30,000 Americans have CF. Seventy percent of all CF diagnoses occur by age 1; about 20 percent occur by age 10, and 10 percent after age 10.

“The new screening test will catch the significant percentage of children with CF who fall through the diagnostic cracks under the current--largely reactive--system of diagnosis,” says Beryl Rosenstein, M.D., pediatrician at the Children’s Center.

Early diagnosis means that more infants will be put on preventive therapies before damage occurs, which in turn means fewer complications, fewer hospitalizations, better quality of life, increased life expectancy and reduced healthcare costs.

The early diagnosis of CF will also pose new challenges both for health-care providers and parents--challenges that will be addressed at the clinic, Rosenstein says. The clinic will focus on the following:

• Counseling, education and support to address the unique emotional and psychological needs of parents whose newborn has been diagnosed with CF.
• Nutrition counseling to prevent malnutrition in the earliest developmental stages when the consequences could be the most devastating and long-lasting.
• Teaching families techniques to help clear airway secretions.
• Infection control to help reduce the risk of newborns becoming infected with bacteria that permanently colonize the lungs and cause early and progressive lung damage.
• Pulmonary function tests to assess lung status early in infancy, allowing physicians to intervene at the first sign of decline.

The screen works by testing each newborn’s blood for immunoreactive trypsinogen (IRT), a pancreatic enzyme elevated in babies with CF. Elevated IRT levels do not mean that the baby has CF. Infants with high values of IRT will be referred for a sweat test, the diagnostic standard for CF.

For more information on CF and newborn screening, go to www.hopkinscf.org.