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The CF Foundation urges all states to include newborn screening for cystic fibrosis in test panels


Similar recommendations issued from the CDC based on benefits of early diagnosis

The Cystic Fibrosis Foundation today issued a recommendation for the implementation of routine cystic fibrosis (CF) screening in all newborns. In addition, the Centers for Disease Control and Prevention (CDC) issued a recommendation in its October 15 Morbidity and Mortality Weekly Report (MMWR) Reports and Recommendations that all states should consider routine screening for CF in all newborns. CF Foundation-supported research and peer-reviewed evidence conducted and gathered over the past two decades have demonstrated the benefits of newborn screening for CF. People with CF who are diagnosed at birth gain more weight and have better nutrition than those who are diagnosed later in life. Better nutrition and weight gain in children with CF has been linked to a slower decline in respiratory function, the primary cause of death in CF.

Advances in CF treatment and care, have had a significant impact on the length and quality of life for people with CF. Research on newborn screening for CF has shown further clinical benefit when therapeutic interventions were administered near the beginning of life. Early diagnosis allows a special high-calorie, high-fat diet, along with pancreatic enzyme and fat soluble vitamin supplementation to begin immediately, if needed, before digestive complications occur. Better nutrition has been linked to improved height and weight measurements, better pulmonary status, and cognitive benefits.

"It is imperative that states add newborn screening for CF to their test panels to give people with this disease the best odds at living longer, healthier lives," said Robert J. Beall, Ph.D., president and CEO of the Cystic Fibrosis Foundation. "The CF Foundation is prepared to be a resource of knowledge and expertise for states as they consider this important recommendation and begin implementing newborn screening for CF."

Although new therapies and specialized care have extended the lives of people with CF, the average age of diagnosis--approximately 3 years--has remained the same. Traditionally, children with CF are not diagnosed unless CF has been present in a family’s history or until symptoms appear. In many cases, delayed diagnosis has resulted in irreversible nutritional and pulmonary morbidities. By making a CF diagnosis sooner, therapeutic interventions can minimize and postpone the development of symptoms, which can slow the progression of the disease.

Implementation of CF Newborn Screening

Participants in a recent workshop hosted by the CF Foundation discussed how to implement routine newborn screening for CF, as well as how the CF Foundation and its nationwide network of accredited care centers can ensure the best care for newborns before classic CF symptoms develop. The CF Foundation will work closely with state governments to urge the inclusion of CF on newborn screening test panels and will provide guidance on optimum test procedures and the elements of a comprehensive program. The CF Foundation also will encourage states to refer parents of newly diagnosed infants to its accredited care centers. These centers provide state-of-the-art specialty care and the opportunity for infants to benefit from medical advances. In addition, these centers will continue to track demographic, diagnostic, and treatment data via the CF Foundation’s national Patient Registry to further improve their care. Newborn screening for CF also will enable new treatment options for infants to be evaluated and developed.

"After reviewing and carefully considering the scientific evidence, the benefits of newborn screening for CF are now clear. We now must turn our attention to ensuring that parents of newborns diagnosed with CF are given the educational resources they need to care for their children and that they receive appropriate treatment from CF experts," said Preston W. Campbell, III, M.D., executive vice president of medical affairs of the CF Foundation. "I am eager to witness the improvements that CF newborn screening will inevitably bring to people with CF and am proud of the CF Foundation’s leadership role in this initiative."

The newborn screening tests for CF are not diagnostic tools. If the initial screen is positive, then further tests are done to rule out or confirm a CF diagnosis. Only a fraction of newborns with a positive initial screen ultimately will be diagnosed with CF. Currently, seven states conduct CF newborn screening in all newborns; three states screen for CF in some hospitals or populations; while two more states are now implementing CF screening programs. From 1990 to 1999, 1.46 million babies were screened for CF and 372 were ultimately diagnosed with CF. CF is one of the most common disorders identified in the newborn screening programs that include it in their testing.

Allison Tobin | EurekAlert!
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