The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Conflicts of Interest
References
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IEM Reg | Abb. |
---|---|
phenylketonuria/hyperphenylalaninaemia | PKU/HPA |
maple syrup urine disease | MSUD |
isovaleric acidemia | IVA |
glutaric acidemia type I | GA-I |
medium chain acyl-CoA Dehydrogenase Deficiency | MCADD |
very long chain acyl-CoA Dehydrogenase Deficiency | VLCADD |
long chain hydrxoyacyl-CoA Dehydrogenase Deficiency | LCHADD |
carnitine palmitoyl tranferase 1 deficiency | CPT-1 |
carnitine palmitoyl tranferase 2 deficienc | CPT-2 |
carnitine-acylcarnitine translocase deficiency | CACT |
IEM pil. Study | |
tyrosinemia types I and II | Tyr I, II |
hypermethioninaemia | Met |
propionic acidaemia | PA |
methylmalonic acidaemia | MMA |
citrullinaemia | Cit |
argininaemia | Arg |
short chain acyl CoA Dehydrogenase Deficiency | SCADD |
3-methyl crotonyl CoA carboxylase deficiency | 3-MCC |
3-hydroxymethylglutaryl CoA dehydrogenase deficiency | HMG |
carnitine uptake defect | CUD |
Data | Total Pop. | Major | Roma | OR |
---|---|---|---|---|
Absol.n. | 165,648 | 140,327 | 25,321 | |
M/R% | 100 | 84.70% | 14.30% | |
IEMabs. | 192 | 84 | 108 | |
incid. | 862 | 1670 | 234 | |
prev.104 | 11.59 | 5.98 | 42.65 | OR:7.13 |
CH | 87 | 68 | 19 | |
incid. | 1904 | 2063 | 1333 | |
prev.104 | 5.25 | 4.84 | 6.56 | OR:1.35 |
CAH | 10 | 10 | 0 | |
incid. | 16,565 | 16,565 | <25,321 | |
prev.104 | 0.6 | 0.71 | 0 | |
CF | 24 | 23 | 1 | |
incid. | 6902 | 6101 | 25,321 | |
prev.104 | 1.45 | 1.64 | 0.39 | |
total abs | 313 | 185 | 128 | |
tot.incid. | 529 | 758 | 197 | |
prev.104 | 18.9 | 13.2 | 50.5 | OR:3.83 |
Prev.104 | Major | Roma | Total |
---|---|---|---|
IEM | 5.98 | 42.65 | 11.59 |
CH | 4.84 | 6.56 | 5.25 |
CAH | 0.71 | 0 | 0.6 |
CF | 1.64 | 0.39 | 1.45 |
Total | 13.2 | 50.5 | 18.9 |
Disorder | Major | Roma | Total |
---|---|---|---|
PKU | 32 | 8 | 40 |
MCADD | 6 | 9 | 15 |
GA-1 | 2 | 0 | 2 |
LCHADD | 1 | 0 | 1 |
IVA | 1 | 0 | 1 |
MSUD | 1 | 0 | 1 |
Met | 1 | 0 | 1 |
Tyr | 4 | 2 | 6 |
3MCCD | 8 | 1 | 9 |
MMA | 2 | 1 | 3 |
CUD | 20 | 16 | 36 |
Cit | 2 | 0 | 2 |
SCADD | 2 | 69 | 71 |
PA | 0 | 2 | 2 |
NKH * | 1 | 0 | 1 |
Gal | 1 | 0 | 1 |
Total | 84 | 108 | 192 |
IEM | Majority | Roma | Total |
---|---|---|---|
PKU | 2.28 | 3.016 | 2.41 |
MCADD | 0.42 | 3.035 | 0.9 |
CUD | 1.43 | 6.32 | 2.17 |
SCADD | 0.14 | 27.25 | 4.29 |
Total | 5.99 | 42.65 | 11.59 |
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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. https://doi.org/10.3390/ijns3030025
Dluholucký S, Knapková M. The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group. International Journal of Neonatal Screening. 2017; 3(3):25. https://doi.org/10.3390/ijns3030025
Chicago/Turabian StyleDluholucký, Svetozár, and Mária Knapková. 2017. "The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group" International Journal of Neonatal Screening 3, no. 3: 25. https://doi.org/10.3390/ijns3030025