Screening neonatale esteso

Abstract

Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The introduction of the newborn screening programme completely changed the natural history of many diseases, as it allowed their precocious diagnosis and a prompt pharmacological or dietary treatment. For example, as to phenylketonuria, before the newborn screening, mental retardation and epilepsy were key elements to suspect this condition; nowadays, a child affected by phenylketonuria is indistinguishable from their healthy peers. After its birth in the early 1990s, newborn screening has undergone a constant series of changes: the number of conditions searched for has increased, the tools to analyze the blood samples have improved and even the facilities and transportation system have developed. At the same time, various critical issues have emerged, namely how to deal with false positive samples, management costs, differences between regional programmes and even ethics (what other conditions should be included or not). This article aims to explain how this complex diagnostic system works, trying to picture the current situation of extended newborn screening in Italy and in the world, paying particular attention to its prospects.