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Newborn Screening in Slovenia
INTRODUCTION: 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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter Open
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820172/ https://www.ncbi.nlm.nih.gov/pubmed/27646913 http://dx.doi.org/10.1515/sjph-2015-0013 |
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author | ŠMON, Andraž GROŠELJ, Urh ŽERJAV TANŠEK, Mojca BIČEK, Ajda OBLAK, Adrijana ZUPANČIČ, Mirjana KRŽIŠNIK, Ciril REPIČ LAMPR ET, Barbka MURKO, Simona HOJKER, Sergej BATTELINO, Tadej |
author_facet | ŠMON, Andraž GROŠELJ, Urh ŽERJAV TANŠEK, Mojca BIČEK, Ajda OBLAK, Adrijana ZUPANČIČ, Mirjana KRŽIŠNIK, Ciril REPIČ LAMPR ET, Barbka MURKO, Simona HOJKER, Sergej BATTELINO, Tadej |
author_sort | ŠMON, Andraž |
collection | PubMed |
description | INTRODUCTION: 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. |
format | Online Article Text |
id | pubmed-4820172 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | De Gruyter Open |
record_format | MEDLINE/PubMed |
spelling | pubmed-48201722016-04-20 Newborn Screening in Slovenia ŠMON, Andraž GROŠELJ, Urh ŽERJAV TANŠEK, Mojca BIČEK, Ajda OBLAK, Adrijana ZUPANČIČ, Mirjana KRŽIŠNIK, Ciril REPIČ LAMPR ET, Barbka MURKO, Simona HOJKER, Sergej BATTELINO, Tadej Zdr Varst Original Scientific Article INTRODUCTION: 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. De Gruyter Open 2015-03-13 /pmc/articles/PMC4820172/ /pubmed/27646913 http://dx.doi.org/10.1515/sjph-2015-0013 Text en © National Institution of Public Health, Slovenia http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License (CC BY-NC-ND 3.0). |
spellingShingle | Original Scientific Article ŠMON, Andraž GROŠELJ, Urh ŽERJAV TANŠEK, Mojca BIČEK, Ajda OBLAK, Adrijana ZUPANČIČ, Mirjana KRŽIŠNIK, Ciril REPIČ LAMPR ET, Barbka MURKO, Simona HOJKER, Sergej BATTELINO, Tadej Newborn Screening in Slovenia |
title | Newborn Screening in Slovenia |
title_full | Newborn Screening in Slovenia |
title_fullStr | Newborn Screening in Slovenia |
title_full_unstemmed | Newborn Screening in Slovenia |
title_short | Newborn Screening in Slovenia |
title_sort | newborn screening in slovenia |
topic | Original Scientific Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820172/ https://www.ncbi.nlm.nih.gov/pubmed/27646913 http://dx.doi.org/10.1515/sjph-2015-0013 |
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