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Updated: Jun 30, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Impact of expanded newborn screening--United States, 2006
Insights
Expanding newborn screening to include 29 disorders identified 32% more infants, many with rare conditions. This highlights the need for enhanced public health programs for diagnosis and management of these rare genetic disorders.
Area of Science:
- Public Health
- Genetics
- Biochemistry
Background:
- Universal newborn screening is a key public health practice.
- Advancements in tandem mass spectrometry (MS/MS) enable multi-analyte screening of blood spots.
- The American College of Medical Genetics (ACMG) recommended a uniform panel of 29 disorders in 2006.
Purpose of the Study:
- To estimate the impact of expanding newborn screening panels to include 29 disorders.
- To assess the number of infants who would be identified with disorders under a uniform panel.
- To understand the burden on state newborn screening programs.
Main Methods:
- Utilized 2001-2006 data from states with established MS/MS screening programs.
- Estimated the number of children identified with disorders in 2006 if all states used the ACMG panel.
- Analyzed the increase in identified cases and the nature of the disorders.
Main Results:
- Expansion would have identified 32% more children (4,370 to 6,439 in 2006).
- A significant proportion of these additional cases involve rare disorders.
- Increased identification necessitates specialized local or regional expertise for screening, diagnosis, and management.
Conclusions:
- Expanded newborn screening significantly increases the identification of infants with rare genetic disorders.
- Existing public health and healthcare systems require enhancement to manage the complexities of these rare conditions.
- Continued investment in screening programs for both common and rare disorders is crucial for infant health.
Abstract:
Universal newborn screening for selected metabolic, endocrine, hematologic, and functional disorders is a well-established practice of state public health programs. Recent developments in tandem mass spectrometry (MS/MS), which is now capable of multi-analyte analysis in a high throughput capacity, has enabled newborn screening to include many more disorders detectable from a newborn blood spot. In 2006, to address the substantial variation that existed from state to state in the number of disorders included in newborn screening panels, the American College of Medical Genetics (ACMG), under guidance from the Health Resources and Services Administration, recommended a uniform panel of 29 disorders, which was subsequently endorsed by the federal Advisory Committee on Heritable Disorders in Newborns and Children. After 2006, most states began to expand their panels to include all 29 disorders; currently, 21 states and the District of Columbia have fully implemented the ACMG panel. To estimate the burden to state newborn screening programs resulting from this expansion, CDC used 2001-2006 data from those states with well-established MS/MS screening programs to estimate the number of children in the United States who would have been identified with disorders in 2006 if all 50 states and the District of Columbia had been using the ACMG panel. This report describes the results of that analysis, which indicated that, although such an expansion would have increased the number of children identified by only 32% (from 4,370 to 6,439), these children would have had many rare disorders that require local or regional capacity to deliver expertise in screening, diagnosis, and management. The findings underscore the need for public health and health-care delivery systems to build or expand the programs required to manage the rare disorders detected through expanded newborn screening, while also continuing programs to address more common disorders.
