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

Authors present The First Results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R ) ethnic populations. The follow-up of the ethnicity has been introduced in Newborn Screening for Cystic Fibrosis (NSCF) and after to entire ENS program comprising of 23 Hereditary Metabolic Disorders (HMD). Results: In 2013-2015, a total of 165,648 newborns were investigated in ENS, 23,321 of them (15,3%) 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 slightly higher prevalence in cong. hypothyreosis (CH), only one case of CF, and no cases of CAH in the R ethnic group. The ENS prevalence of HMD detected by MS/MS was expressively 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 HMD were found. Whereas the PKU and spectrum of aminoaciduria and organic acidurias dominate in the M group, the fatty acids oxidation disorders (MCAD, SCAD) and carnitine defects (CUD) were frequent in the R newborn group. Conclusion: Despite the presented results are preliminary, the ethnic approach to ENS is enabling the recording of the ethnic differences in the screening prevalence of individual disorders, which would be missing during unitary approach.