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Updated: Apr 12, 2026
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
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Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Daniela Ombrone1,2, Elisa Giocaliere1, Giulia Forni1
1Newborn screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, Viale Pieraccini 24, Florence, 50139, Italy.
Mass Spectrometry Reviews
|May 9, 2015
Summary
Tandem mass spectrometry (MS/MS) is a sensitive and specific technology for newborn screening (NBS), enabling early detection of treatable metabolic disorders. Future challenges include reducing false positives and negatives for improved NBS programs.
Area of Science:
- Clinical Chemistry
- Biochemical Genetics
- Mass Spectrometry
Background:
- Tandem mass spectrometry (MS/MS) has advanced significantly over 25 years.
- MS/MS offers rapid metabolite measurement in various biological samples.
- Its application in newborn screening (NBS) detects treatable disorders early.
Purpose of the Study:
- To highlight the success and advancements of MS/MS in clinical chemistry and NBS.
- To discuss the potential of MS/MS for second-tier and confirmatory testing.
- To identify future challenges and opportunities in NBS programs.
Main Methods:
- Utilizing tandem mass spectrometry (MS/MS) for metabolite analysis.
- Employing filter paper spots and biological fluids for specimen testing.
- Applying MS/MS for both initial screening and confirmatory diagnostics.
Main Results:
- MS/MS demonstrates high sensitivity and specificity in NBS.
- Early detection of asymptomatic metabolic disorders is facilitated.
- Promising results for identifying new disorders like lysosomal storage diseases and SCIDs.
Conclusions:
- MS/MS is a crucial tool in modern newborn screening.
- Future NBS programs aim to reduce false positives and negatives.
- Expanding NBS to include new treatable disorders is a key objective.
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