Epidemiology of rare diseases detected by newborn screening in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10395398" target="_blank" >RIV/00064165:_____/19:10395398 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/19:00110154 RIV/00216208:11110/19:10395398 RIV/00216208:11120/19:43917655 RIV/00216208:11130/19:10395398 and 5 more
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8v0sGLO0ru" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=8v0sGLO0ru</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.21101/cejph.a5441" target="_blank" >10.21101/cejph.a5441</a>
Alternative languages
Result language
angličtina
Original language name
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
Original language description
Objectives: Presymptomatic detection of patients with rare diseases (RD), defined by a population frequency less than 1: 2,000, is the task of newborn screening (NBS). In the Czech Republic (CZ), currently eighteen RD are screened: phenylketonuria/hyperphenylalaninemia (PK U/HPA), congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), very long chain acyl-CoA dehydrogenase deficiency (VLCADD), carnitine palmitoyl transferase I and II deficiency (CPTID, CPTIID), carnitine-acylcarnitine translocase deficiency (CACTD), maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleryl-CoAdehydrogenase deficiency (IVA), argininemia (ARG), citrullinemia (CIT), biotinidase deficiency (BTD), cystathionine beta-synthase-deficient homocystinuria (CBSD HCU), and methylenetetrahydrofolate reductase deficiency homocystinuria (MTHFRD HCU). The aim was to analyze the prevalence of RD screened by NBS in CZ. Methods: We examined the NBS programme in CZ from 1 January 2010 to 31 December 2017, which covered 888,891 neonates. Dried blood spots were primarily analyzed using fluorescence immuno-assay, tandem mass spectrometry and fluorimetry. Results: The overall prevalence of RD among the neonate cohort was 1: 1,043. Individually, 1:2,877 for CH, 1:5,521 for PKU/HPA, 1 :6,536 for CF (1:5,887 including false negative patients), 1:12,520 for CAH, 1:22,222 for MCADD, 1:80,808 for LCHADD, 1:177,778 for GA I, 1 : 177,778 for IVA, 1:222,223 for VLCADD, 1:296,297 for MSUD, 1:8,638 for BTD, and 1:181,396 for CBSD HCU. Conclusions: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Central European Journal of Public Health
ISSN
1210-7778
e-ISSN
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Volume of the periodical
27
Issue of the periodical within the volume
2
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
7
Pages from-to
153-159
UT code for WoS article
000472898100012
EID of the result in the Scopus database
2-s2.0-85068840514