Expanded newborn screening using tandem mass spectrometry

Tandem mass spectrometry is a promising new screening technology. It enables to screen simultaneously within the same analytical run not only for phenylketonuria but also for a wide range of other treatable disorders in the metabolism of amino acids, organic acids and fatty acids. The high potential for an additional preventive benefit must be weighed against risks that might arise from lack of quality assured and premature technology application such as late screening, lack of intervention measures or high false positive rates. Here we describe the technical and medical prerequisites for technology introduction within a Bavarian model program and the results on > 300.000 newborns accumulated since 1999. At overall low recall rates a cumulative detection rate of 1:2.700 was achieved. In particular the high frequency in the recognition of fatty oxidation disorders (1:8.500) is expected to provide a high preventive effect.