Cent Eur J Public Health 2019, 27(2):153-159 | DOI: 10.21101/cejph.a5441

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Jan David1,7, Petr Chrastina2, Karolina Pešková2, Viktor Kožich2, David Friedecký3, Tomáš Adam3, Eva Hlídková3, Hana Vinohradská4, Dana Novotná5, Monika Hedelová1, Eva Al Taji1, Andrea Holubová6, Veronika Skalická7, Milan Macek6, Renata Gaillyová8, Felix Votava1
1 Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czech Republic
2 Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
3 Department of Clinical Biochemistry, Faculty of Medicine, Palacký University and University Hospital Olomouc, Olomouc, Czech Republic
4 Department of Clinical Biochemistry, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic
5 Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic
6 Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
7 Department of Paediatrics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
8 Department of Medical Genetics, Faculty of Medicine, Masaryk University and University Hospital Brno, Brno, Czech Republic

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 (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.

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.

Keywords: rare disease, newborn screening, Czech Republic, public health, epidemiology, prevention

Received: June 28, 2018; Revised: January 15, 2019; Accepted: January 15, 2019; Published: June 26, 2019  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, et al.. Epidemiology of rare diseases detected by newborn screening in the Czech Republic. Cent Eur J Public Health. 2019;27(2):153-159. doi: 10.21101/cejph.a5441. PubMed PMID: 31241292.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions - a systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015 Sep;18(6):906-14. Go to original source... Go to PubMed...
    2. Council recommendation of 8 June 2009 on an action in the field of rare diseases. Off J Eur Union. 2009 Jul 3;52(C 151):7-10.
    3. Government of the Czech Republic. National strategy for rare diseases 2010-2020. Prague: Government of the Czech Republic; 2010.
    4. Votava F, Kozich V, Chrastina P, Peskova K, Adam T, Friedecky D, et al. Performance metrics of 5 years of newborn screening in the Czech Republic. Int J Neonatal Screen. 2016;2:69-70.
    5. Wilson JM, Jungner YG. Principles and practise of mass screening for disease. Bol Oficina Sanit Panam. 1968;65(4):281-393. (In Spanish.) Go to PubMed...
    6. Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol. 2015;39(3):171-87. Go to PubMed...
    7. Methodical guideline for neonatal laboratory screening and follow-up care. Věstník MZ ČR. 2016;2016(6):2-11. (In Czech.)
    8. Blehova B, Pazoutova M, Bloudkova D, Kroutilova O. Evaluation of screening for phenylketonuria after 6 years of existence of the laboratory. Cesk Pediatr. 1976;31(7):399-401. (In Czech.)
    9. Hnikova O, Kracmar P, Zelenka Z, Philipiova O, Fabianova J, Skvor J, et al. Screening of congenital hypothyroidism in newborns in Bohemia and Moravia. Endocrinol Exp. 1989;23:117-23. Go to PubMed...
    10. Votava F, Novotna D, Kracmar P, Vinohradska H, Stahlova-Hrabincova E, Vrzalova Z, et al. Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance. Eur J Pediatr. 2012;171(6):935-40. Go to original source... Go to PubMed...
    11. Sommerburg O, Krulisova V, Hammermann J, Lindner M, Stahl M, Muckenthaler M, et al. Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations. J Cyst Fibros. 2014;13(1):15-23. Go to original source... Go to PubMed...
    12. Chrastina P, Bartl J, Hornik P, et al. LCHAD deficiency - the most frequent fatty acid oxidation disorder in newborn screening in the Czech Republic. Cesk Slov Pediatr. 2009;64(4):175-6.
    13. Buyukgebiz A. Newborn screening for congenital hypothyroidism. J Pediatr Endocrinol Metab. 2006;19(11):1291-8. Go to original source... Go to PubMed...
    14. Pourfarzam M, Zadhoush F. Newborn Screening for inherited metabolic disorders; news and views. J Res Med Sci. 2013;18:801-8.
    15. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99(2):363-84. Go to original source... Go to PubMed...
    16. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95(9):4133-60. Go to original source... Go to PubMed...
    17. Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros. 2009;8(1):71-8. Go to original source... Go to PubMed...
    18. van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-56. Go to original source... Go to PubMed...
    19. Leonard JV, Dezateux C. Newborn screening for medium chain acyl CoA dehydrogenase deficiency. Arch Dis Child. 2009;94(3):235-8. Go to original source... Go to PubMed...
    20. The portal for rare diseases and orphan drugs [Internet]. Paris: Orphanet [cited 2018 May 25]. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN.
    21. Prevalence of rare diseases: bibliographic data. Orphanet Report Series, January 2018, Number 2 [Internet]. [cited 2018 May 30]. Available from: https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf.
    22. Massie J, Curnow L, Gaffney L, Carlin J, Francis I. Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 2010;95(7):531-3. Go to original source... Go to PubMed...
    23. Vavrova V, Zemkova D, Skalicka V, Votava F. Problems in the diagnostics of cystic fibrosis - the need of newborn screening. Cesk Slov Pediatr. 2006;61(12):703-9.
    24. Votava F, Kozich V, Chrastina P, Peskova K, Adam T, Friedecky D, et al. The results of expanded newborn screening in the Czech Republic. Cesk Slov Pediatr. 2014;69(2):77-86.
    25. Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS, Rupp K, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis. 2012;35(3):603-11. Go to original source... Go to PubMed...
    26. Frankova V, Votava F, Kozich V. Expansion of newborn screening for inherited metabolic disorders - ethical questions. Cesk Slov Pediatr. 2014;69(2):87-94.
    27. Dhillon K, Ho T, Rich P, Xu D, Lorey F, She J, et al. An automated method on analysis of blood steroids using liquid chromatography tandem mass spectrometry: application to population screening for congenital adrenal hyperplasia in newborns. Clin Chim Acta. 2011;412(22-23):2076-84. Go to original source... Go to PubMed...
    28. Ross LF, Clarke AJ. A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Pediatr Neurol. 2017;77:12-22. Go to original source... Go to PubMed...
    29. Burgard P, Rupp K, Linder M, Haege G, Rigter T, Weinreich SS, et al. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis. 2012;35(4):613-25. Go to original source... Go to PubMed...
    30. Svaton M, Sediva A, Mejstrikova E, et al. Differential diagnostics of immunodeficiency using antigen receptor excision circles in neonatal screening cards and in postnatal peripheral blood. Orv Hetil. 2012;153 Suppl 3:42.

    Return to the content