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

Abstract

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.

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

“…Such an increase in MCADD incidence is in accordance with the experience of other screening programs [ 18 , 33 , 34 ]. The incidence of MCADD in Norway with eNBS (1:27,139) matches the report from the Czech Republic (MCADD incidence, 1:22,000) [ 35 ]. The incidence of MCADD after eNBS in Norway remains the lowest published in Western Europe, underscored by the fact that one third of our detected cases were born to immigrant parents.…”

Newborn Screening for CF across the Globe—Where Is It Worthwhile?

“…We respectfully disagree with the view that an incidence of at least 1:7000 hould guide decisions about whether or not to screen. In fact, many genetic disorders included in standard NBS panels have a much lower incidence without any challenge to their validity [32]. Many of the hereditary metabolic disorders in NBS panels have incidences of 1:200,000-3,000,000, as David et al [32] emphasize.…”

“…In fact, many genetic disorders included in standard NBS panels have a much lower incidence without any challenge to their validity [32]. Many of the hereditary metabolic disorders in NBS panels have incidences of 1:200,000-3,000,000, as David et al [32] emphasize. In addition, with CF NBS underway for extensive periods, the incidence of CF may decrease significantly [33] and even in previously high incidence regions become less than 1:7000.…”

“…Beyond Ireland which has the highest incidence of CF in Europe (1:1353) [39], the incidence ranges from 1:2800 in the UK [38] to 1:10,000 in Russia [40] ( Figure 5). It is 1:2850 in Belgium [41], about 1:4500 in France [42], Germany [14], Italy [38,43,44], and Spain (where large regional variations are observed) [45], while it oscillates between 1:5200 and 1:6500 in Central Europe (Czech Republic [32], Denmark [46], Netherlands [47], Poland [48], Slovakia [49], and Sweden [50]). The incidence appears lower than 1:7000 in three European countries (Portugal [51], Norway [52], and Russia [40]) as well as in various regions of Spain [45].…”

Adult Care in Cystic Fibrosis

“…1,2,36 However, as screening programs are introduced in Asia, Africa, and South America, many more children may be identified. 37,38 In contrast, there will be substantial increases in the number of adults with CF, with potentially around 50% increase in numbers over the next 20 years. 34 These increases are a result of optimal care through pediatric and adult centers, with fewer children now dying because of CF and the median age of death progressively increasing in the adult population.…”