The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group
Autor: | Mária Knapková, Svetozár Dluholucký |
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Jazyk: | angličtina |
Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty Ethnic group Ethnic populations Cystic fibrosis ethnic screening differences 03 medical and health sciences 0302 clinical medicine Immunology and Microbiology (miscellaneous) 030225 pediatrics medicine Congenital adrenal hyperplasia Carnitine Newborn screening business.industry lcsh:RJ1-570 Obstetrics and Gynecology extended newborn screening lcsh:Pediatrics medicine.disease Congenital hypothyroidism 030104 developmental biology Roma ethnicity Aminoaciduria Pediatrics Perinatology and Child Health business medicine.drug |
Zdroj: | International Journal of Neonatal Screening, Vol 3, Iss 3, p 25 (2017) International Journal of Neonatal Screening; Volume 3; Issue 3; Pages: 25 |
Popis: | 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. |
Databáze: | OpenAIRE |
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