The availability of novel technologies, such as tandem-mass-spectrometry (MS/MS) and DNA analysis, has expanded tremendously the number of genetic conditions that can be diagnosed through neonatal screening programs at birth, including conditions that cannot be treated nor prevented, or that will become manifest only later in life, or that identify individuals that are only at an increased risk...

The Neonatal Screening Program for congenital hypothyroidism (CHT) and phenylketonuria (PKU) commenced in 1996 with the objective of bringing better quality of life to people throughout the country, especially in the remote areas. This involved the implementation of routine services to the public health infrastructure all over the country. The plan of action has been designed so that by the yea...

OBJECTIVES The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). METHODS A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was...