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Int. J. Neonatal Screen. 2017, 3(3), 25;

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

Newborn Screening Centre of Slovak Republic, Children Faculty Hospital, 97409 Banská Bystrica, Slovak Republic
Institute Faculty of Health Slovak Medical University, in Bratislava, Sládkovičova 21, 97405 Banská Bystrica, Slovak Republic
Author to whom correspondence should be addressed.
Received: 6 February 2017 / Revised: 26 June 2017 / Accepted: 28 August 2017 / Published: 30 August 2017
PDF [654 KB, uploaded 31 August 2017]


The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations. A follow-up of ethnicity has been introduced in newborn screening for cystic fibrosis (NSCF) and afterwards to the entire ENS program comprising of 23 inborn errors of metabolism (IEM). In 2013–2015, a total of 165,648 newborns were investigated in ENS, 23,321 of them (14%) were the R ethnic group, a total of 313 positive cases were discovered (total ENS prevalence = 1:529, M = 1:758, R = 1:198). In the R ethnic group, there was a slightly higher prevalence of congenital hypothyroidism (CH), only one case of CF, and no cases of congenital adrenal hyperplasia (CAH) in the R ethnic group. The ENS prevalence of IEM detected by MS/MS was significantly higher in the R ethnic group than in M group (M = 1:1670 vs. R = 1:234, OR:7,13). Significant differences in the prevalence of individual types of IEM were also found. While PKU and other aminoaciduria and organic acidurias dominate in the M group, the fatty acid oxidation disorders (MCAD, SCAD) and carnitine defects (CUD) were more frequent in the R newborn group. Despite the preliminary nature of the results, an ethnic approach to ENS enables the recording of the ethnic differences in the screen prevalence of individual disorders, which would not be apparent without this approach. View Full-Text
Keywords: extended newborn screening; ethnic screening differences; Roma ethnicity extended newborn screening; ethnic screening differences; Roma ethnicity

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Dluholucký, S.; Knapková, M. The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group. Int. J. Neonatal Screen. 2017, 3, 25.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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