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Newborn Screening: What Does the Emergency Physician Need to Know?
Lindsay Roofe Lavin1, Nicholas Higby, Thomas Abramo
1*Pediatric Emergency Medicine Fellow (Lavin) and Assistant Professor of Pediatrics (Higby), Division of Pediatric Emergency Medicine, Department of General Pediatrics, Vanderbilt University, Nashville, TN; and †Professor of Pediatrics and EM Section Chief (Abramo), Pediatric Emergency Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR.
Newborn screening programs have evolved significantly since the 1960s, expanding to detect more genetic disorders due to technological advances and policy changes. This impacts healthcare providers and emergency room physicians.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn screening programs in the U.S. began in the 1960s, with state-level responsibility and varying screening panels.
- Historically screened disorders include congenital hypothyroidism, phenylketonuria, and cystic fibrosis, among others.
- Significant expansion in screening scope occurred post-2006, driven by technological advancements.
Purpose of the Study:
- To review the logistics of newborn screening programs.
- To explore the impact of new technology and policy on state newborn screening panels.
- To highlight disorders relevant to emergency room physicians and discuss future screening considerations.
Main Methods:
- Review of historical and current newborn screening guidelines and technologies.
- Analysis of policy changes affecting state screening panels.
- Identification of key genetic disorders and their relevance to emergency care.
Main Results:
- Newborn screening panels have expanded to include a minimum of 9 organic acidurias, 5 fatty acid oxidation disorders, 3 hemoglobinopathies, and 6 other conditions.
- Technological advancements and updated guidelines have broadened the scope of detectable genetic disorders.
- The evolving landscape of newborn screening necessitates updated knowledge for healthcare providers, particularly emergency room physicians.
Conclusions:
- Newborn screening has broadened significantly, requiring providers to be aware of a wider range of genetic conditions.
- Technological and policy shifts are continuously reshaping newborn screening, impacting diagnostic and management strategies.
- Future considerations for newborn screening include further expansion and integration into clinical practice.
