Newborn screening in Croatia and around the world

Abstract

Newborn screening is a healthcare program aimed at identifying newborns with health conditions that can cause severe illness or death unless detected and treated early. In the Republic of Croatia, newborn screening has been organized for phenylketonuria and congenital hypothyroidism in a single center, at Laboratory for Newborn Screening, Department of Pediatrics, Zagreb University Hospital Center, which has very good screening results. During the last decade, newborn screening for inborn errors of metabolism has been signifi cantly improved, mainly due to the novel technology of tandem mass spectrometry, which has the ability to detect specifi c metabolites for more than 50 disorders from a single dried blood spot. This novel technology has become a standard for the so-called expanded newborn screening and it has been used in developed countries all over the world. Results of well designed and large studies have shown that early detection of inborn errors of metabolism by expanded newborn screening program reduces mortality and leads to better clinical outcome in aff ected children, but also that it is cost-eff ective. In the last few years, great eff orts have been made to implement expanded newborn screening program in our country. Having in mind benefi ts and negative sides of expanded newborn screening in the world, we tried to tailor a rational and for our circumstances adjusted disease panel which will, hopefully, be implemented soon in the national newborn screening program. Here we describe former results and achievements of the current Croatian newborn screening program, as well as the anticipated benefi ts, challenges and negative side eff ects we will have to deal with once the expanded newborn screening program is initiated.