Supplemental Newborn Screening by MS/MS-Based Second-Tier Testing

Evolution of Newborn Screening

July 2008

Since the 1960s, newborn screening evolved by the inclusion of additional conditions to screening panels following a model, where one condition is identified by one test that measures one analyte to which one cutoff is applied.

However, in the 1990s, tandem mass spectrometry, or MS/MS, was applied to newborn screening allowing for improved efficiency and effectiveness, but also representing a more complex technology that allows for multiplexing where in a single dried blood spot punch, multiple conditions can be identified in a single assay that measures more than 60 amino acids and acylcarnitines with analyte-specific cutoffs. In the US, newborn screening is administered under the jurisdiction of each state which determines which conditions each baby should be screened for. Because of this and the slow implementation of tandem mass spectrometry, a significant discrepancy developed in the number of conditions screened for in each state.

< Previous Slide

Evolution of Newborn Screening

Next Slide >

 

Jump to section:

• Introduction
• What is Newborn Screening?
• Evolution of Newborn Screening
• ACMG* Uniform Panel
• MS/MS Impact on Newborn Screening
• Newborn Screening Performance in the USA (MS/MS)
• Costs of False-Positive NBS Results
• Newborn Screening in Minnesota
• MN Newborn Screening Program
• Costs of False-Positive NBS Results
• What is Second-Tier Testing?
• Second-Tier Testing is Performed for the Following "Problem" Analytes
• Why Second-Tier Testing?
• Costs of False-Positive NBS Results
• Impact of Second-Tier Testing on Performance of Newborn Screening by MS/MS at Mayo Clinic
• Questions?