Cystic fibrosis: newborn screening in America
Daniel T Kleven1, Christopher R McCudden, Monte S Willis
1University of North Carolina Hospitals, USA.
Insights
Newborn screening for cystic fibrosis (CF) allows for early detection, leading to improved survival and better health outcomes. This strategy enhances lung function and growth while reducing therapy costs for CF patients.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Cystic fibrosis (CF) is a primary lethal genetic disorder in Caucasians, characterized by lung dysfunction, pancreatic insufficiency, and intestinal issues.
- Traditional CF diagnosis relied on clinical signs like family history, meconium ileus, or symptoms of malabsorption and chronic lung disease.
- The discovery of elevated immunoreactive trypsinogen in neonatal blood spots in 1979 enabled the development of newborn screening for CF.
Purpose of the Study:
- To highlight the significant improvements in survival rates for cystic fibrosis patients over recent decades.
- To emphasize the adoption and benefits of universal newborn screening programs for cystic fibrosis.
- To advocate for the expansion of newborn screening programs to improve patient outcomes in the United States.
Main Methods:
- Implementation of national newborn-screening programs in Europe, Australia, and Canada to identify CF patients post-birth.
- Adoption of universal newborn screening programs in 37 US states.
- Analysis of benefits derived from early identification of CF patients.
Main Results:
- Significant improvements in survival rates for patients with cystic fibrosis.
- Early identification through newborn screening leads to better lung function and growth.
- Less intensive therapy and reduced healthcare costs are observed with early CF diagnosis.
Conclusions:
- Universal newborn screening for cystic fibrosis is a crucial strategy for improving patient survival and quality of life.
- Early detection and intervention significantly enhance health outcomes and reduce treatment burdens.
- The increasing adoption of newborn screening programs in the US promises better futures for individuals with cystic fibrosis.
Abstract:
Cystic fibrosis is the most common lethal genetic disease in Caucasians, manifesting as progressive lung dysfunction, pancreatic insufficiency, and intestinal disease. CF was traditionally diagnosed clinically, either because of a family history or occurrence of meconium ileus, or as a result of intestinal malabsorption and chronic pulmonary disease. In 1979, it was discovered that immunoreactive trypsinogen was increased in neonatal dried-blood specimens on Guthrie cards, making it possible to screen neonates. During the past decades, survival rates of patients with CF have improved significantly (see Figure 5). To continue this progress, universal newborn screening has been implemented in many states as an addition to the arsenal of therapies and strategies to improve survival. National newborn-screening programs to identify CF patients after birth have been adopted for a number of years in Europe, Australia, and Canada. As expected, many benefits have been seen due to the early identification of CF patients, including improved survival, better lung function and growth with less intensive therapy, and reduced cost of therapy. To date, 37 states in the United States have adopted similar programs, in the hopes of improving CF outcomes. This welcome trend should help improve the lives of CF patients living in America.
Related Concept Videos
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:24Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...