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

What is Newborn Screening?

July 2008

Let’s begin with a short introduction to newborn screening. Newborn screening was pioneered by Dr. Robert Guthrie in the early 1960s to identify patients with phenylketonuria, better known as PKU, which is an inborn error of amino acid metabolism that causes mental retardation unless treatment with a phenyl-alanine restricted diet is implemented before symptoms occur. Newborn screening was implemented as a public health program for PKU and subsequently other conditions for which early intervention can avoid mortality, morbidity, and disabilities.

Newborn screening comprises a program where, for the most part, blood is collected on a filter paper on the second day of life. The dried blood spots are sent to the screening laboratory where they are analyzed for the biomarkers of the disease included in the screening panel, and short- and long-term follow-up of patients found to be affected.

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What is Newborn Screening?

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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?