This systematic review evaluated the clinical and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem MS. The evidence appears to support the introduction of tandem MS into a UK neonatal screening programme for PKU and MCAD deficiency combined.
New technological approaches for automated processing coupled with the use of computer-assisted software would allow the analysis of hundreds of samples on a daily basis and minimise labour costs. Tandem MS has the potential for simultaneous multidisease screening using a single analytical technique. However, it is difficult to draw firm conclusions on extending the UK neonatal screening programme to all disorders detectable by tandem MS. Although the marginal cost of extending the programme to include other conditions may be relatively small, the application of this new technology to PKU and MCAD deficiency screening does not imply the wholesale inclusion of all disorders detectable by tandem MS. Robust evidence on the underlying incidence and outcomes for many of the disorders was lacking, particularly differences in long-term outcomes that could be attributed to therapies initiated as a consequence of presymptomatic detection using tandem MS.