AB010. Newborn screening worldwide: when and where is molecular testing a part of the screening protocol

Abstract

Background Newborn bloodspot screening (NBS) describes various tests that can occur during the first few hours or days of a newborn’s life and have the potential for preventing severe health problems, including death. NBS has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. Molecular testing using dried blood spot specimens was first demonstrated as a viable 2nd-tier NBS technique for both sickle cell diseases and cystic fibrosis in the 1980s. Since that time, use of molecular tests has slowly expanded in NBS programs until now it is a routine part of many screening programs including as a primary screening method for severe combined immunodeficiency disease (SCID).