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Newborn Screening: Current Practice and Our Journey over the Last 60 Years
Jing Cao1, Marzia Pasquali2, Patricia M Jones1
1Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, United States.
The Journal of Applied Laboratory Medicine
|March 20, 2024
Summary
Newborn screening (NBS) programs have evolved significantly since the 1960s, improving outcomes for infants with inborn errors of metabolism. Early detection and treatment through NBS are crucial for normal development.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- Inborn errors of metabolism are over 2000 genetic disorders that can cause severe illness or death.
- Early diagnosis and treatment of these conditions at birth can lead to normal or near-normal development.
- Newborn screening (NBS) has been instrumental in saving and improving lives since its introduction.
Purpose of the Study:
- To review the historical development and current practices of newborn screening.
- To describe the criteria and process for adding new disorders to NBS programs.
- To examine the methodologies, performance monitoring, and follow-up care associated with NBS.
Main Methods:
- Historical review of newborn screening programs.
- Analysis of the evolution of diagnostic technologies and methodologies.
- Examination of policy and implementation strategies for NBS.
Main Results:
- Newborn screening has evolved from basic biochemical tests to sophisticated genetic analyses.
- The process for adding new disorders involves rigorous evaluation of evidence and technology.
- Continuous monitoring and follow-up are essential for the effectiveness of NBS programs.
Conclusions:
- Newborn screening in the United States represents a significant public health achievement.
- NBS programs are continually expanding to include more disorders.
- Technological advancements are driving the ongoing evolution and improvement of NBS.
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