The results of expanded newborn screening in the Czech Republic
Authors:
F. Votava 1; V. Kožich 2; P. Chrastina 2; K. Pešková 2; T. Adam 3; D. Friedecký 3; E. Hlídková 3; H. Vinohradská 4; P. Dejmek 1; V. Krulišová 5; A. Holubová 5; M. Balaščaková 5; T. Piskáčková 5; M. Macek 5; R. Gaillyová 6; I. Valášková 6; V. Skalická 7
Authors‘ workplace:
Klinika dětí a dorostu, UK 3. lékařská fakulta a FN Královské Vinohrady, Prahapřednosta doc. MUDr. F. Votava, Ph. D.
1; Ústav dědičných metabolických poruch, UK 1. lékařská fakulta a Všeobecná fakultní nemocnice, Prahapřednosta prof. MUDr. V. Kožich, CSc.
2; Laboratoř dědičných metabolických poruch OKBI, UP Lékařská fakulta a FN Olomoucvedoucí doc. RNDr. T. Adam, Ph. D.
3; Oddělení klinické biochemie, pracoviště Dětská nemocnice, MU Lékařská fakulta a FN, Brnoprimář doc. MUDr. M. Dastych, CSc.
4; Ústav biologie a lékařské genetiky, UK 2. lékařská fakulta a FN Motol, Prahapřednosta prof. MUDr. M. Macek, DrSc.
5; Oddělení lékařské genetiky, MU Lékařská fakulta a FN, Brnoprimářka MUDr. R. Gaillyová, Ph. D.
6; Pediatrická klinika, UK 2. lékařská fakulta a FN Motol, Prahapřednosta prof. MUDr. J. Lebl, CSc.
7
Published in:
Čes-slov Pediat 2014; 69 (2): 77-86.
Category:
Original Papers
Overview
The nationwide newborn screening (NBS) using dried blood spots (DBS) was started in 1975 for phenylketonuria//hyperphenylalaninemia (PKU/HPA); in 1985 for congenital hypothyroidism (CH); in 2006 for congenital adrenal hyperplasia (CAH) and in X/2009 screening for cystic fibrosis (CF) and 9 inherited metabolic diseases – maple syrup urine disease (MSUD), glutaric aciduria type I (GA I), isovaleric aciduria (IVA), medium chain acyl-CoA, long chain 3-hydroxyacyl-CoA and very long chain acyl-CoA dehydrogenase deficiency (MCADD, LCHADD and VLCADD), carnitine palmitoyltransferase I and II deficiency (CPTD I and II) and carnitine-acylcarnitine translocase deficiency (CACTD) was mandated.
Methods:
From 1st January 2002 through 31st December 2012 a total of 1 179,136 newborns were screened for PKU//HPA and CH; phenylalanine was measured by different methods, since X/2009 solely by tandem mass spectrometry (MS/MS); the levels of thyreotropin were measured by fluoroimmunoassay (FIA). The of 17-hydroxyprogesterone concentrations were determined in 752,922 newborns by FIA. The level of immunoreactive trypsinogen (IRT) was measured in 367,114 newborns by FIA and the CFTR gene (at first 32, later 50 most common mutations) was analysed in original DBS in 1.05% of newborns with the highest IRT levels to minimize false positive results. The spectrum of metabolites for 9 expanded inborn errors of metabolism was analysed in 362,653 newborns by MS/MS.
Results:
NS detected in total 646 patients with subsequently confirmed diagnosis. Screening prevalence were as follows PKU/HPA 1:7,234; CH 1:3,562; CAH 1:12,343; CF 1:7,060; MCADD 1:17,269; LCHADD 1:51,808; VLCADD 1:90,663; GA I 1:120,884; MSUD and IVA both 1:181,327. No case of CPTD I and CPTDII/CACTD was detected. Efficacy of NBS increased with the expansion of diseases in the programme: detection rate rose from 1:2,701 in 2002–2005 over 1:2,072 in 2007–2008 to 1:1,138 after last expansion of NBS in 2009. False positive rate (FPR) was 0.540%, of which 74% represent results of CAH screening.
Conclusion:
NBS is an effective approach for presymptomatic detection of serious rare diseases. Further optimization is a subject of current research including the introduction of additional analytical tests (second tiers) to reduce FPR and by further expanding of screened disorders.
Key words:
newborn screening, dried blood spot, prevalence, rare diseases, congenital hypothyroidism, congenital adrenal hyperplasia, cystic fibrosis, phenylketonuria, inherited metabolic disorders
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2014 Issue 2
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