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Updated: Sep 16, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Advances in Newborn Screening
1Department of Pediatrics, The University of North Carolina School of Medicine, Pediatric Genetics and Metabolism, CB#7487, Medical School Wing E, Chapel Hill, NC 27599-7487, USA.
Abstract:
Newborn screening (NBS) is one of the most successful public health programs of the last century. Beginning in the 1960s, states in the United States have been screening newborns to detect conditions at a presymptomatic stage and initiate treatments that save lives and prevent disability. With decreasing costs of genomic sequencing, expansion of NBS is on the horizon. While genomic NBS that allows detection of more treatable conditions is an exciting possibility, it is important to proceed with caution and acquire evidence of the benefits, harms, and impact before introducing it as part of this public health mandate.

