Newborn Screening for Inborn Errors of Metabolism in Saskatchewan

In Saskatchewan all babies are screened for approximately 30 metabolic disorders. The newborn screen includes testing for several amino acid disorders, organic acid disorders, fatty acid disorders, endocrine disorders and a few other inherited metabolic conditions. Methods of detection include tandem mass spectrometry, immunoassays using fluorescent detection and spectrophotometric techniques. All methods will produce some results that fall into the “gray zone.” This means that a repeat newborn screening sample may be needed, not that a baby has a specific disorder. Recollection of all requested samples is extremely important to determine the significance of “gray zone” results. Parents should not be alarmed by the request to have a sample recollected, as this will occur in approximately 1% of all births.