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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Newborn screening
Inderneel Sahai1, Deborah Marsden
1New England Newborn Screening Program, University of Massachusetts, Jamaica Plains, Boston, MA, USA.
Insights
Newborn screening identifies over 50 inherited disorders early, preventing severe health issues. Advances continue to expand screening capabilities for better infant health outcomes.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- Newborn screening enables early detection of inherited disorders, crucial for preventing morbidity and mortality.
- Since 1962, newborn screening has evolved from phenylketonuria to over 50 conditions.
Purpose of the Study:
- To provide an overview of the current status of newborn screening.
- To detail the range of detectable disorders, methodologies, and analytical challenges.
Main Methods:
- Review of current newborn screening practices and technologies.
- Analysis of specimen types and laboratory techniques used in newborn screening.
Main Results:
- Newborn screening panels now encompass over 50 inherited disorders.
- Technological advancements have significantly expanded screening capabilities.
Conclusions:
- Newborn screening is a vital public health tool for early intervention.
- Ongoing evolution in methodologies and disorder inclusion is expected.
Abstract:
Screening newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since the introduction of newborn screening in 1962 to screen for phenylketonuria, technological advances have enabled the screening panel to expand substantially so that it now includes more than 50 disorders. Newborn screening will continue to evolve,, and deployment of improved methodologies and incorporation of additional disorders are expected. This article provides an overview of the current state of newborn screening, and describes the disorders detectable, the methodologies employed, and the challenges involved in analyses of specimens obtained from newborns.
