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

Introduction

July 2008

Welcome to Mayo Medical Laboratories' Hot Topics. These presentations provide short discussions of current topics and may be helpful to you in your practice.

Our presenter for this program is Dr. Dietrich Matern, from the Division of Laboratory Genetics at Mayo Clinic. Dr. Matern discusses the use of second-tier testing to reduce the number of false-positive results in newborn screening. This is accomplished using mass spectrometry technology. Dr. Matern also discusses the unique partnership between Mayo Clinic and the Minnesota Department of Health. This partnership is credited with reducing the number of false-positive test results, the cost of unnecessary follow-up testing, and parental anxiety for Minnesota parents.

Introduction

Next Slide >

 

Jump to section:

• 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?