A one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented.
Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis.
Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286.
Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.
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 Burgard P Rupp K Lindner M Haege G Rigter T Weinreich SS Loeber JG Taruscio D Vittozzi L Cornel MC Hofmann GF. Newborn screening programmes in Europe; arguments and eforts regarding harmonization. Part 2 - From screening laboratory results to treatment follow-up and quality assurance. J Inherit Metab Dis. 2012;35: 613-25.
 Dluholucký S Knapková M Záhorcová M. Newborn screening in Slovakia - from 1985 till today. Acta Fac Pharm Univ Comen 2013 Suppl.VIII:32-36 Available at http://www.degruyter.com/view/j/afpuc.2013.60.issue-supplementum8/afpuc-2013-0006/afpuc-2013-0006. xml Accessed at February 28 2014
 Lam C Carter JM Cederbaum SD Neidich J Gallant NM Lorey F Feuchtbaum L Wong DA. Analysis of cases of 3 – methylcrotonyl CoA carboxylase defciency (3-MCCD) in the California newborn screening program reported in the state database. Mol Genet Metab. 2013 (4): 477-83.
 Loeber JG1 Burgard P Cornel MC Rigter T Weinreich SS Rupp K Hofmann GF Vittozzi L. Newborn screening programmes in Europe; arguments and eforts regarding harmonization. Part 1 – From blood spot to screening result. J Inherit Metab Dis. 2012 Jul;35(4):603-11.
 Pollitt RJ. Introducing new screens: why are we all doing different things? J Inherit Metab Dis. 2007 30(4):423-9.
 Schimmenti LA Crombez EA Schwahn BC Heese BA Wood TC Schroer RJ. Bentler K Cederbaum S Sarafo-glou K McCann M Rinaldo P Matern D di San Filippo CA Pasquali M Berry SA Longo N. Expanded screening iden-tifes maternal primary carnitine defciency. Mol Genet Metab. 2007 90(4):441-5.
 Wilcken B Wiley V Sim KG Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electroscopy tandem mass spectrometry. J Pediatr. 2001:138(4):581-4.
 Wilcken B Haas M Joy P Wiley V Bowling F Carpenter K Christodoulou J Cowley D Ellaway C Fletcher J Kirk E P Lewis B McGill J Peters H Pitt J Ranieri E Yaplito-Lee J Boneh A. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 2009 124(2):e241-e248
 Wilcken B Newborn screening: how are we traveling and where should we be going. J Inherit Metab Dis. 2011 34(3):569-74.
 Wilson JMG Jungner G. Principles and practice of screening for disease Geneva: WHO; 1968. Available from: http:// www.who.int/bulletin/volumes/86/4/07-050112BP.pdf.
 Zabransky S. Newborn screening for endocrine and metabolic diseases in Europe 2000. Screening J 2002 2:1-14
 Professional Guidance of the Ministry of health of the Slovak republic 42/2012 about screening (in Slovak) Available at: http://www.health.gov.sk/Zdroje?/Sources/do-kumenty/vestniky_mz_sr/2012/vestnik-39-60-2012.pdf Accessed at 1.3:2014