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

Impact of Second-Tier Testing on Performance of Newborn Screening by MS/MS at Mayo Clinic

July 2008

What is the impact of second-tier testing on the performance of newborn screening by tandem mass spectrometry at the Mayo Clinic? We have a very low false-positive rate  of 0.07%, a high-positive predictive value of 39%, a positive detection rate, where we find one affected case in 2,249 babies screened, there are very few unnecessary follow-up evaluations, basically 1.4 per week in 100,000 births. This, as you will recognize, is the "best case scenario."

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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?