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Princess Margaret Hospital

WA Newborn Screening Program

In December 2004, the WA Newborn Screening Program introduced expanded newborn screening for a range of amino acid, organic acid, and fatty acid oxidation disorders. This followed the evaluation and introduction of a new screening technology called tandem mass spectrometry (MSMS).

MSMS is a laboratory technique that is used for many different purposes. In newborn screening, MSMS testing is used to determine which babies may be at a higher risk to have certain inherited metabolic disorders. These disorders, which are individually rare, fall into three different biochemical categories: amino acid disorders, organic acid disorders, and fatty acid oxidation disorders. An MSMS analyser is able to quickly measure a range of amino acids and acylcarnitines in a single dried blood sample. Based upon the results of this test, an infant can be identified as having an increased risk to have one of these inherited metabolic disorders. That infant will then need to have follow-up tests to confirm or rule out a diagnosis.

MSMS testing differs from other newborn screening tests because it tests for many disorders at one time. Prior to the advent of MSMS, there was a one-test, one-disease paradigm in newborn screening. While it seems that getting more information from one test would be advantageous, this shift in paradigm creates new challenges for newborn screening programs.

For additional information on MSMS:

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