title: Newborn Screening in Slovenia.
abstract: BACKGROUND
  Newborn screening in whole Slovenia started in 1979 with screening for phenylketonuria (PKU). Congenital hypothyroidism (CH) was added into the programme in 1981. The aim of this study was to analyse the data of neonatal screening in Slovenia from 1993 to 2012 for PKU, and from 1991 to 2012 for CH.
  
  
  METHODS
  Blood samples were collected from the heels of newborns between the third and the fifth day after birth. Fluorometric method was used for screening for PKU, CH screening was done by dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA).
  
  
  RESULTS
  From 1993 to 2012, from 385,831 newborns 57 were identified with PKU. 184 newborns out of 427,396 screened from 1991 to 2012, were confirmed for CH. Incidences of PKU and CH in the periods stated are 1:6769 and 1:2323, respectively.
  
  
  CONCLUSIONS
  Successful implementation of newborn screening for PKU and CH has helped in preventing serious disabilities of the affected children. Adding screening for new metabolic diseases in the future would be beneficial.
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
authors.forename: Andraž
authors.initials: A
authors.lastname: Šmon
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
authors.forename: Urh
authors.initials: U
authors.lastname: Grošelj
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia.
authors.forename: Mojca
authors.initials: M
authors.lastname: Žerjav Tanšek
authors.affiliation: University Medical Centre Ljubljana, Department of Nuclear Medicine, Zaloska cesta 7, 1000 Ljubljana, Slovenia.
authors.forename: Ajda
authors.initials: A
authors.lastname: Biček
authors.affiliation: University Medical Centre Ljubljana, Department of Nuclear Medicine, Zaloska cesta 7, 1000 Ljubljana, Slovenia.
authors.forename: Adrijana
authors.initials: A
authors.lastname: Oblak
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Zupančič
authors.affiliation: University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia.
authors.forename: Ciril
authors.initials: C
authors.lastname: Kržišnik
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.
authors.forename: Barbka
authors.initials: B
authors.lastname: Repič Lampr Et
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia.
authors.forename: Simona
authors.initials: S
authors.lastname: Murko
authors.affiliation: University Medical Centre Ljubljana, Department of Nuclear Medicine, Zaloska cesta 7, 1000 Ljubljana, Slovenia.
authors.forename: Sergej
authors.initials: S
authors.lastname: Hojker
authors.affiliation: University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia.
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
keywords: Slovenia; congenital hypothyroidism; incidence; mass screening; phenylketonuria