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.
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机译：作者介绍了在斯洛伐克的大多数（M）和罗姆人（R）族群中进行全国新生儿筛查（ENS）的初步结果。在新生儿筛查性囊性纤维化（NSCF）中引入了种族的跟进性，之后又对整个ENS计划进行了随访，该计划包括23种先天性代谢错误（IEM）。 2013年至2015年，ENS共调查了165,648名新生儿，其中R族为23,321名（占14％），共发现313例阳性病例（ENS总患病率= 1：529， M = 1：758，R = 1：198）。在R族中，先天性甲状腺功能减退症（CH）的患病率略高，R族中只有1例CF，而没有先天性肾上腺皮质增生（CAH）病例。 R族中MS / MS检测出的IEM的ENS患病率明显高于M族（M = 1：1670 vs. R = 1：234，OR：7,13）。还发现个别类型IEM的患病率存在显着差异。在M组中，PKU和其他氨基酸尿症以及有机酸尿症占主导地位，而R新生儿组中，脂肪酸氧化障碍（MCAD，SCAD）和肉碱缺陷（CUD）更为常见。尽管结果具有初步性质，但针对ENS的种族方法可以记录个体疾病的筛查患病率中的种族差异，而如果没有这种方法，这将是不明显的。
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