Metabolic neonatal screening

Since the end of the seventies, many countries started programs on metabolic neonatal screening focused on early detection and diagnosis of those metabolic congenital disorders which, detected in the first days of life, were subject of treatment. Therefore prognosis of some of these diseases has improved notably. Initially the programs included the screening of phenylketonuria and congenital hypothyroidism, being extended later to the detection to congenital suprarenal hyperplasia and pancreatic cystic fibrosis. Recently the introduction of tandem mass spectrometry has allowed the screening of many metabolic diseases; nevertheless many of them do not match the minimal criteria to be included in a public health screening program.

Keywords: Prevention. Neonatal screening. Congenital metabolic diseases.