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Updated: Jul 16, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Newborn screening: current status
1Nemours Children's Clinic, Jacksonville, Florida, USA. parn@nemours.org
Insights
Newborn screening programs in the U.S. have advanced child health, but state-run policies and new technologies like tandem mass spectrometry create complex issues. These include cost, ethics, and quality control for screening rare metabolic disorders.
Area of Science:
- Public Health
- Biochemistry
- Genetics
Background:
- Newborn screening is a vital public health initiative, established in all U.S. states since the 1970s.
- Programs are state-managed, leading to variations in screened conditions, testing, follow-up, and funding.
- Technological advancements, particularly tandem mass spectrometry, enable broader screening for metabolic disorders.
Purpose of the Study:
- To examine the policy implications of expanding newborn screening.
- To address the challenges posed by new screening technologies and diverse state-level approaches.
Main Methods:
- Review of state-based newborn screening policies and practices.
- Analysis of the impact of tandem mass spectrometry on screening capabilities.
- Discussion of policy considerations related to cost, ethics, quality, and oversight.
Main Results:
- Tandem mass spectrometry significantly expands the scope of detectable inborn errors of metabolism.
- Decentralized, state-run programs present challenges in standardization and equitable implementation.
- The expansion of screening necessitates careful consideration of economic, ethical, and quality assurance factors.
Conclusions:
- Advancements in laboratory technology necessitate ongoing policy evaluation for newborn screening.
- Balancing expanded screening capabilities with resource allocation, ethical considerations, and quality oversight is crucial.
- Effective newborn screening requires coordinated policy development to address the complexities of modern metabolic disorder detection.
Abstract:
Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. Newborn screening programs are state-run, and decisions are left to the individual states regarding the conditions to be screened for, the mechanism for confirmatory testing, follow-up care, and financing of the programs. Laboratory advances in tandem mass spectrometry make it possible to screen newborns for many rare inborn errors of metabolism. This raises many policy issues including screening's cost-effectiveness, ethics, quality, and oversight.
