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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
Newborn screening for cystic fibrosis
Jeffrey S Wagener1, Marci K Sontag, Frank J Accurso
1Department of Pediatrics, Pediatric Pulmonary Section, University of Colorado School of Medicine and the Children's Hospital, Denver 80218, USA. wagener.jeff@tchden.org
Insights
Early diagnosis of cystic fibrosis (CF) through newborn screening improves disease management and prevents complications. Advances in genetic screening technology are expanding early detection, presenting new clinical challenges and opportunities for improved patient outcomes.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Public Health Screening
Background:
- Early diagnosis of cystic fibrosis (CF) is crucial for effective disease management and prevention of complications.
- Newborn screening programs are expanding, with 10% of US CF patients identified early.
- Technological advancements enable broader genetic condition screening, including for CF.
Purpose of the Study:
- To review recent advances in cystic fibrosis newborn screening.
- To examine improvements in early care for infants diagnosed with CF.
- To discuss challenges and opportunities presented by expanded genetic screening.
Main Methods:
- Literature review of recent studies on CF newborn screening and early care.
- Analysis of trends in genetic screening technologies and their application to CF.
- Examination of clinical implications of early CF diagnosis and carrier detection.
Main Results:
- Significant progress has been made in cystic fibrosis newborn screening protocols.
- Expanded screening identifies more infants with CF, enabling earlier intervention.
- New technologies facilitate broader genetic screening, posing challenges in interpretation and management.
Conclusions:
- Early detection of cystic fibrosis through newborn screening significantly enhances patient outcomes.
- Ongoing advancements in genetic screening necessitate updated clinical guidelines and training.
- The expansion of newborn screening programs holds promise for improved long-term health in individuals with CF.
Abstract:
Early diagnosis of cystic fibrosis (CF) provides an opportunity to improve disease control and prevent early complications. Of patients with CF in the United States, 10% are identified early through newborn screening (including infants born in Colorado, Massachusetts, New Jersey, New York, Wisconsin, Wyoming, and parts of California, Connecticut, Pennsylvania, and Montana). Successful screening programs in these states have stimulated other states to consider adding CF screening to their newborn programs. Additionally, new technology permits expanded screening for numerous genetic conditions. Genetic screening, such as that used most frequently for CF, creates new challenges for the clinician, including atypical disease presentations and carrier detection. In this review, we examine the many advances in CF newborn screening and early care that were reported during the last few years.
