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The goal of newborn screening (NBS)3 for inherited disorders of metabolism is the early detection and confirmation of disease, thus enabling early medical intervention, treatment, and improved outcomes (1). Important characteristics of a screening method include analytical specificity and sensitivity, coupled with rapid, high throughput and timely reporting of abnormal results. Routine primary screening methods are designed to identify as many abnormal infants as possible, with diagnostic sensitivity favored over specificity for disorder detection. This approach not only increases the numbers of false-positive test results, thus adding to the cost of operating NBS programs, but also places unnecessarily increased stress, anxiety, and possibly parent–child dysfunction on families (2). As the number of disorders in the NBS test panels grows, however, so does the overall number of false-positive results, which has increased severalfold per true case (3). One solution to this problem is to use improved methods or to couple primary screening methods with second-tier tests that improve selectivity.The use of tandem mass spectrometry (MS/MS) for detecting phenylketonuria is an example of an NBS method that improves detection as a primary screen while also being more selective than older, classic NBS methods such as fluorometry. In one study, MS/MS analysis of newborn spot samples of dried blood collected ≤24 h after birth was compared with fluorometric analysis of the same samples. Because of this early time of collection, the decision level for an increased phenylalanine concentration was lowered by the public health laboratory using fluorometry to ensure that no infants with phenylketonuria were missed. MS/MS analysis of the identical samples demonstrated that disease detection could be sustained while improving selectivity (4). The ability to measure multiple analytes in the same analysis enabled the calculation of the phenylalanine/tyrosine molar ratio, which reduced false-positive rates a 100-fold. This screen for phenylketonuria …

Impact of Second-Tier Testing on the Effectiveness of Newborn Screening