Jernej Kovač
Klinični inštitut za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Barbka Repič Lampret
Klinični inštitut za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Žiga Iztok Remec
Klinični inštitut za specialno laboratorijsko diagnostiko, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Teja Sever Šraj
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Urh Grošelj
Klinični oddelek za endokrinologijo, diabetes in bolezni presnove, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Abstract

Newborn Screening (NBS) is one of the most significant and successful public health initiatives globally. Implemented in various capacities across most developed countries, NBS programs vary in scope and focus, with the most comprehensive screening for over 50 conditions. In Slovenia, NBS is a vital component of the public health system, initiated in 1979 with screenings for phenylketonuria. The program has evolved and expanded with the introduction of new technologies such as mass spectrometry for metabolic diseases and immunoreactive and genetic tests for conditions like cystic fibrosis, spinal muscular atrophy, and primary immune deficiencies. Dried blood spots on filter paper facilitate easy transportation to the University Children’s Hospital Ljubljana for the analysis. Professional sample collection by maternity ward staff ensures sample quality, which is critical for successful laboratory testing. Participation in the program is universal for all newborns, with an option for parental refusal. Hundreds of Slovenian newborns have been successfully diagnosed and treated, underscoring the program’s importance. With the advent of new medicines and therapies, the scope of NBS is set to expand. The program’s success relies on the synergy between participating groups - maternity hospitals, the pediatric clinic, and the laboratory.

Key words: newborn testing, metabolic disorders, neuro-muscular disorders, immune deficiencies, screening testing, inborn disorders