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

Newborn Screening Performance in the USA (MS/MS)

July 2008

To illustrate the impact of newborn screening performance, let’s review best case-worst case scenarios as they are currently encountered in different parts of the US when it comes to newborn screening with tandem mass spectrometry. There are more than 4 million babies born in the US each year. In the best case, the false-positive rate of a screening program is 0.07% and the positive detection rate is one true positive in 2,249 live births. That would identify 1,780 affected babies per year and 2,800 false-positives. The positive predictive value of tandem mass spectrometry screening would be 39%, and based on a population of 100,000 babies per year, 1.4 babies would have to undergo unnecessary follow-ups per week.

In the worst case scenario, where the false-positive rate is 3.0% and the detection rate is one true positive in 15,000 live births, the positive predictive value would only be 0.2% and 58 babies as opposed to 1.4 in the best case scenario would have to undergo unnecessary follow-up testing each week.

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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?