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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.
Insights
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.
Background:
Inborn errors of metabolism comprise a set of more than 2000 known disorders which can result in significant morbidity and may be rapidly fatal. Diagnosing these disorders at birth and treating immediately, however, may often result in a normal to near-normal life for the affected infant. Thus, newborn screening (NBS) has saved or improved the lives of countless individuals since its inception in the 1960s.
Content:
This review covers NBS, from its early beginnings up to the current day practice. We follow the evolution of NBS, as well as describe the need and how disorders are added to NBS programs, the testing and how its performance is monitored, and the follow-up to the testing. We also briefly touch on NBS outside the United States.
Summary:
Newborn screening in the United States is a major public health success story and it continues to grow and evolve to cover more disorders and utilize new technological advances.
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