Cystic Fibrosis Diagnostic Testing Improves: Reduces Misdiagnosis & Medical Problems

Until now, many Minnesota children with cystic fibrosis (sis-tick fye-bro-sis) were not diagnosed soon enough to help prevent or slow down serious medical problems caused by this disease. The Minnesota Department of Health Newborn Screening Program began testing newborns for cystic fibrosis (CF) in March and has already identified six babies who will benefit from early diagnosis and treatment.  “Thanks to CF newborn screening, an estimated 25 Minnesota babies who are affected with this genetic disorder can be helped each year,” said Minnesota Commissioner of Health Dianne Mandernach.  “The goal of our newborn screening program is to extend and improve the lives of people living with CF and other serious, treatable disorders.” CF is a genetic disease that causes breathing, digestive, and fertility problems. People with CF make thick, sticky mucus that clogs the airways of the lungs and prevents the pancreas from helping to digest food. Because early treatment can improve growth and lung function, newborn screening provides an opportunity for people with CF to lead longer, healthier lives.

Treatment for CF consists mainly of nutritional interventions, which have been shown to improve height, weight and cognitive function, and provide some benefits in maintaining or improving respiratory function and life expectancy. Approximately 500 people with CF currently live in Minnesota. When newborn screening detects CF early, treatment can begin right away. Without newborn screening, a child with CF may not be diagnosed for several years, especially if the child does not have specific symptoms and the parents are unaware of any family history of the disorder. “The struggle we go through as parents trying to find out what is wrong with our children before they are diagnosed is almost unbearable,” said Lou Mertz, parent of a son with CF. “Once you know your child has CF, you can do much more to keep the child healthy and to help the child grow up normally. I am so proud of our state for adding CF to our newborn screening program.” The national Cystic Fibrosis Foundation, headquartered in Bethesda, Maryland, urges all states to test for CF in their newborn screening programs. The foundation believes that screening newborns for CF will enable early diagnosis and treatment. Foundation officials have praised Minnesota for including CF in its newborn screening program because early detection will help families avoid a lengthy struggle for a correct diagnosis and follow-up treatment.

When a baby has a positive newborn screen for CF, the family is referred by their doctor to one of three Minnesota CF centers, located at Children’s Hospitals and Clinics of Minnesota, the University of Minnesota Children’s Hospital, or the Mayo Clinic. Doctors specializing in CF are available to evaluate, diagnose and treat the baby. The CF centers provide families with expert care so their babies have the opportunity to live life as healthy as they can be. Since 1965 when Minnesota started screening for PKU (phenylketonuria), all Minnesota babies have had a blood sample sent to the Minnesota Department of Health for newborn screening, unless their parents opt-out of this testing. The sample is collected before each baby goes home from the hospital.  Over the last four decades, technology and treatment have improved, and Minnesota has expanded its newborn screening panel to include more disorders. By adding CF to the newborn screening program, Minnesota now screens for all of the disorders recommended by the American College of Medical Genetics. In fact, Minnesota has one of the most comprehensive newborn screening programs in the country. “Minnesota screens for 53 conditions,” Commissioner Mandernach said. “Newborn screening can mean the difference between life and death or disability and healthy development for significant numbers of the more than 70,000 babies born in Minnesota every year.”