Epidemiology of rare diseases detected by newborn screening in the Czech Republic
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 (PKU/HPA), congenital hypothyroidism (CH)...
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| Veröffentlicht in: | Central European journal of public health 2019-06, Vol.27 (2), p.153-159 |
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| creator | David, Jan Chrastina, Petr Pešková, Karolina Kožich, Viktor Friedecký, David Adam, Tomáš Hlídková, Eva Vinohradská, Hana Novotná, Dana Hedelová, Monika Al Taji, Eva Holubová, Andrea Skalická, Veronika Macek, Milan Gaillyová, Renata Votava, Felix |
| description | 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 (PKU/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-CoA dehydrogenase 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.
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.
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.
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. |
| doi_str_mv | 10.21101/cejph.a5441 |
| format | Article |
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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.
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.
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.</description><identifier>ISSN: 1210-7778</identifier><identifier>EISSN: 1803-1048</identifier><identifier>DOI: 10.21101/cejph.a5441</identifier><identifier>PMID: 31241292</identifier><language>eng</language><publisher>Czech Republic: National Institute of Public Health</publisher><subject>3-Hydroxyacyl-CoA dehydrogenase ; Aciduria ; Acyl-CoA dehydrogenase ; Adrenal glands ; Biotinidase ; Carnitine ; Chains ; Congenital diseases ; Cystathionine b-synthase ; Cystic fibrosis ; Dehydrogenase ; Diseases ; Epidemiology ; Fluorescence ; Fluorimetry ; Homocystinuria ; Hyperplasia ; Hypothyroidism ; Isovaleryl-CoA dehydrogenase ; Laboratories ; Maple syrup ; Maple syrup urine disease ; Mass spectrometry ; Mass spectroscopy ; Methylenetetrahydrofolate reductase ; Neonates ; Newborn babies ; Phenylketonuria ; Reductases ; Screening ; Syrup ; Translocase ; Urine ; Very long chain acyl-CoA dehydrogenase</subject><ispartof>Central European journal of public health, 2019-06, Vol.27 (2), p.153-159</ispartof><rights>Copyright National Institute of Public Health Jun 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-4997c6bf4c37034d05e11ab51840e547db592bc558d5d90d84e0c9a63ac804e83</citedby><cites>FETCH-LOGICAL-c357t-4997c6bf4c37034d05e11ab51840e547db592bc558d5d90d84e0c9a63ac804e83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31241292$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>David, Jan</creatorcontrib><creatorcontrib>Chrastina, Petr</creatorcontrib><creatorcontrib>Pešková, Karolina</creatorcontrib><creatorcontrib>Kožich, Viktor</creatorcontrib><creatorcontrib>Friedecký, David</creatorcontrib><creatorcontrib>Adam, Tomáš</creatorcontrib><creatorcontrib>Hlídková, Eva</creatorcontrib><creatorcontrib>Vinohradská, Hana</creatorcontrib><creatorcontrib>Novotná, Dana</creatorcontrib><creatorcontrib>Hedelová, Monika</creatorcontrib><creatorcontrib>Al Taji, Eva</creatorcontrib><creatorcontrib>Holubová, Andrea</creatorcontrib><creatorcontrib>Skalická, Veronika</creatorcontrib><creatorcontrib>Macek, Milan</creatorcontrib><creatorcontrib>Gaillyová, Renata</creatorcontrib><creatorcontrib>Votava, Felix</creatorcontrib><title>Epidemiology of rare diseases detected by newborn screening in the Czech Republic</title><title>Central European journal of public health</title><addtitle>Cent Eur J Public Health</addtitle><description>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 (PKU/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-CoA dehydrogenase 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.
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.
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.
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.</description><subject>3-Hydroxyacyl-CoA dehydrogenase</subject><subject>Aciduria</subject><subject>Acyl-CoA dehydrogenase</subject><subject>Adrenal glands</subject><subject>Biotinidase</subject><subject>Carnitine</subject><subject>Chains</subject><subject>Congenital diseases</subject><subject>Cystathionine b-synthase</subject><subject>Cystic fibrosis</subject><subject>Dehydrogenase</subject><subject>Diseases</subject><subject>Epidemiology</subject><subject>Fluorescence</subject><subject>Fluorimetry</subject><subject>Homocystinuria</subject><subject>Hyperplasia</subject><subject>Hypothyroidism</subject><subject>Isovaleryl-CoA dehydrogenase</subject><subject>Laboratories</subject><subject>Maple syrup</subject><subject>Maple syrup urine disease</subject><subject>Mass spectrometry</subject><subject>Mass spectroscopy</subject><subject>Methylenetetrahydrofolate reductase</subject><subject>Neonates</subject><subject>Newborn babies</subject><subject>Phenylketonuria</subject><subject>Reductases</subject><subject>Screening</subject><subject>Syrup</subject><subject>Translocase</subject><subject>Urine</subject><subject>Very long chain acyl-CoA 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; Novotná, Dana ; Hedelová, Monika ; Al Taji, Eva ; Holubová, Andrea ; Skalická, Veronika ; Macek, Milan ; Gaillyová, Renata ; Votava, Felix</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-4997c6bf4c37034d05e11ab51840e547db592bc558d5d90d84e0c9a63ac804e83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>3-Hydroxyacyl-CoA dehydrogenase</topic><topic>Aciduria</topic><topic>Acyl-CoA dehydrogenase</topic><topic>Adrenal glands</topic><topic>Biotinidase</topic><topic>Carnitine</topic><topic>Chains</topic><topic>Congenital diseases</topic><topic>Cystathionine b-synthase</topic><topic>Cystic fibrosis</topic><topic>Dehydrogenase</topic><topic>Diseases</topic><topic>Epidemiology</topic><topic>Fluorescence</topic><topic>Fluorimetry</topic><topic>Homocystinuria</topic><topic>Hyperplasia</topic><topic>Hypothyroidism</topic><topic>Isovaleryl-CoA dehydrogenase</topic><topic>Laboratories</topic><topic>Maple syrup</topic><topic>Maple syrup urine disease</topic><topic>Mass spectrometry</topic><topic>Mass spectroscopy</topic><topic>Methylenetetrahydrofolate reductase</topic><topic>Neonates</topic><topic>Newborn babies</topic><topic>Phenylketonuria</topic><topic>Reductases</topic><topic>Screening</topic><topic>Syrup</topic><topic>Translocase</topic><topic>Urine</topic><topic>Very long chain acyl-CoA dehydrogenase</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>David, Jan</creatorcontrib><creatorcontrib>Chrastina, Petr</creatorcontrib><creatorcontrib>Pešková, Karolina</creatorcontrib><creatorcontrib>Kožich, Viktor</creatorcontrib><creatorcontrib>Friedecký, David</creatorcontrib><creatorcontrib>Adam, Tomáš</creatorcontrib><creatorcontrib>Hlídková, Eva</creatorcontrib><creatorcontrib>Vinohradská, Hana</creatorcontrib><creatorcontrib>Novotná, Dana</creatorcontrib><creatorcontrib>Hedelová, Monika</creatorcontrib><creatorcontrib>Al Taji, Eva</creatorcontrib><creatorcontrib>Holubová, Andrea</creatorcontrib><creatorcontrib>Skalická, Veronika</creatorcontrib><creatorcontrib>Macek, Milan</creatorcontrib><creatorcontrib>Gaillyová, Renata</creatorcontrib><creatorcontrib>Votava, Felix</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Proquest Nursing & Allied Health Source</collection><collection>Health & Medical Collection (Proquest)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central 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diseases detected by newborn screening in the Czech Republic</atitle><jtitle>Central European journal of public health</jtitle><addtitle>Cent Eur J Public Health</addtitle><date>2019-06-01</date><risdate>2019</risdate><volume>27</volume><issue>2</issue><spage>153</spage><epage>159</epage><pages>153-159</pages><issn>1210-7778</issn><eissn>1803-1048</eissn><abstract>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 (PKU/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-CoA dehydrogenase 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.
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.
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.
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.</abstract><cop>Czech Republic</cop><pub>National Institute of Public Health</pub><pmid>31241292</pmid><doi>10.21101/cejph.a5441</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| source | EZB Electronic Journals Library |
| subjects | 3-Hydroxyacyl-CoA dehydrogenase Aciduria Acyl-CoA dehydrogenase Adrenal glands Biotinidase Carnitine Chains Congenital diseases Cystathionine b-synthase Cystic fibrosis Dehydrogenase Diseases Epidemiology Fluorescence Fluorimetry Homocystinuria Hyperplasia Hypothyroidism Isovaleryl-CoA dehydrogenase Laboratories Maple syrup Maple syrup urine disease Mass spectrometry Mass spectroscopy Methylenetetrahydrofolate reductase Neonates Newborn babies Phenylketonuria Reductases Screening Syrup Translocase Urine Very long chain acyl-CoA dehydrogenase |
| title | Epidemiology of rare diseases detected by newborn screening in the Czech Republic |
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