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Pregledni rad
https://doi.org/10.13112/PC.2013.8

Newborn screening in Croatia and around the world

Danijela Petković Ramadža ; Klinika za pedijatriju Kliničkog bolničkog centra i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Vladimir Sarnavka ; Klinika za pedijatriju Kliničkog bolničkog centra i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Ana Škaričić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Ksenija Fumić ; Klinički zavod za laboratorijsku dijagnostiku Kliničkog bolničkog centra u Zagrebu i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska
Ivo Barić ; Klinika za pedijatriju Kliničkog bolničkog centra i Medicinskog fakulteta u Zagrebu, Zagreb, Hrvatska

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Sažetak
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.

Ključne riječi
neonatal screening; tandem mass spectrometry; Croatia

Hrčak ID: 119829

URI
https://hrcak.srce.hr/119829

[hrvatski]

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