Newborn Screening in Slovakia – From 1985 Till Today / Novorodencký skríning na Slovensku – od roku 1985 doposiaľ

S. Dluholucký 1  and M. Knapková 1
  • 1 Newborn Screening Centre of SR, Children Faculty Hospital Banská Bystrica, Banská Bystrica, Slovakia

Regular newborn screening enables detection of severe disorders in their asymptomatic early phase and thus allows the start of early treatment and prevention of long-term sequelae. This concept is in full accordance with care for so called rare diseases. Recently, the national NBS in Europe are under the supervision of ISNS and EUNENBS to ensure the quality control and unified approach. NBS in Slovak Republic has been provided for the whole population as a governmentally guaranteed activity since 1985. The first screened disorder was congenital hypothyroidism (CH). Patients have been screened for phenylketonuria (PKU) since 1995, for congenital adrenal hyperplasia (CAH) since 2003, and for cystic fibrosis (CF) since 2009. The organizational network of NBS ensures more than 98% coverage of the population of newborns. Between 1985 and 2011, the newborn screening centre (NSC SK) examined 3,239 068 newborn infants and confirmed 413 cases of CH (1: 4 128), 157 cases of PKU (1:5 908), 51 cases of CAH (1:8 677) and 26 CF cases (1:6 315). In 2012, the expanded NBS (ENBS) was introduced. It used tandem mass spectrometry (ms/ms) to detect other nine hereditary metabolic disorders (HMDs), defect of beta-oxidation of fatty acids, carnitine disorders, and organic acidurias. Four month pilot study revealed 12 positive cases in 25 000 screened newborns as well as other HMDs not included in the screening - in “peripheral view” of ms/ms. Since 1. January, ENBS has been performed as a regular NBS in the whole population. In January, fifteen new cases were detected (prevalence even 1:763).

If the inline PDF is not rendering correctly, you can download the PDF file here.

  • Dluholucký S. Kongenitálna hypotyreóza na Sovensku. Stav záchytu a dlhodobej starostlivosti o postihnuté deti. Československá pediatrie, 1982;37(3):121-124. ISSN 0069-2328. [in Slovak].

  • Dluholucký, S. a kol. Výsledky trojročného screeningu kongenitálnej hypotyreózy v spádovej oblasti juh Stredoslovenského kraja. Československá pediatrie, 1983;38(12):712-715. ISSN 0069-2328. [in Slovak].

  • Dluholucký S. a kol. Psychosomatický vývoj a hladiny tyreoidálnych hormónov u detí s kongenitálnou hypotyreózou, substituovaných dvomi rôznymi preparátmi. Československá pediatrie, 1986;41(5):259-263. ISSN 0069-2328. [in Slovak].

  • Dluholucký S., Hornová V. Pätnásť rokov skríningu kongenitálnej hypotyreózy u novorodencov na Slovensku. Medicínsky monitor, 2000;3:24-25. [in Slovak].

  • Dluholucký, Knapková M. Výsledky skríningového programu novorodencov v roku 2004. Lekárske listy, 2005;18:5-9. [in Slovak].

  • Dluholucký S., a kol. Neonatálny skríning cystickej fibrózy na Slovensku - Predbežné výsledky testovania modelu a pilotnej štúdie. Pediatria, 2008;3(1):14-16. [in Slovak].

  • Dluholucký S., Knapková M., Hornová V., Cibirová M. Dvadsať rokov skríningu kongenitálnej hypotyreózy u novorodencov na Slovensku. Lekársky obzor, 2006;55(4):131-135. [in Slovak].

  • Dluholucký S., Hornová V., Bucek M., Langer P. Studies on congenital hypothyroidism and result of three and half years of compulsory screening program in Slovakia. Endocrinologia experimentalis, 1989;23(2 June):125-135. ISSN 0013-7200.

  • Dluholucký S., at al. Congenital hypothyroidism in one of monozygotic twins: Comparison of their long-term psychosomatic development. Neuroendocrinology Letters, 2006;27(1-2):203-208.

  • Knapková M., Dluholucký S. Safe Cut-Off level in newborn screening for congenital hypothyroidism in Slovakia. J Inherited Metab Dis. 2011;34 (Suppl 2, P1): S26.

  • Knapková M., Dluholucký S. Newborn screening of cystic fibrosis in Slovakia. Československá pediatrie, 2011;66(10): 41-42. [in Slovak].

  • Dluholucký S., Knapková M. Analysis of secular increase of congenital hypothyroidism in Slovakia. Československá pediatrie, 2011;66, 10:42-43. [in Slovak].


Journal + Issues