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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.
Insights
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.
Abstract:
Newborn screening programs were established in the United States in the early 1960s. Newborn screening programs were then developed by states and have continued to be the responsibility of the state. All states require a newborn screening, but what is required of these programs and screening panels has differed greatly by state. Historically, the most commonly screened disorders are the following: congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell disease and associated hemoglobinopathies, biotinidase deficiency, galactosemia, cystic fibrosis and phenylketonuria, maple syrup urine disease, and homocystinuria. However, under new guidelines in 2006 and with new advances in technology, the scope of newborn screening programs has expanded to include at a minimum 9 organic acidurias, 5 fatty acid oxidation disorders, 3 hemoglobinopathies, and 6 other conditions. This CME article reviews the logistics of newborn screening and explores the effect of new technology and recent policy on state screens and what that means for providers. This article also highlights several of the disorders most relevant to emergency room physicians and discusses future considerations of newborn screening.
