Neonatal Screening for Inherited Metabolic Diseases in 2016

Abstract

The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934. This disease has been the paradigm of inherited metabolic diseases. The next paradigm was the introduction of tandem mass spectrometry in the NBS programs that make possible the simultaneous measurement of several metabolites and consequently, the detection of several diseases in one blood spot and in an unique analysis. We aim to review the current situation of neonatal screening in 2016 worldwide and show scientific evidence of the benefits for some diseases. We will also discuss future challenges. It should be taken into account that any consideration to expand an NBS panel should involve a rigorous process of decision-making that balances benefits against the risks of harm.