Čes-slov Pediat 2024, 79(3):133-135 | DOI: 10.55095/CSPediatrie2024/022
Laboratory newborn screening in the Czech Republic: results in 2010-2022 period
- 1 Klinika dětí a dorostu, 3. lékařská fakulta, Univerzita Karlova a FN Královské Vinohrady, Praha
- 2 Klinika pediatrie a dědičných poruch metabolismu, 1. lékařská fakulta, Univerzita Karlova a Všeobecná fakultní nemocnice, Praha
- 3 Oddělení dětské hematologie a biochemie, Lékařská fakulta, Masarykova univerzita a FN Brno
- 4 Oddělení klinické biochemie, Lékařská fakulta, Univerzita Palackého a FN Olomouc
- 5 Ústav biologie a lékařské genetiky, 2. lékařská fakulta, Univerzita Karlova a FN Motol, Praha
- 6 Oddělení lékařské genetiky, Lékařská fakulta, Masarykova univerzita a FN Brno
The aim of this short article is to summarize the results and basic performance metrics of newborn laboratory screening from a 13-year period in the Czech Republic. The total cumulative prevalence of all 18 screened diseases was 1 : 1081. The highest prevalence was in congenital hypothyroidism 1 : 2894; phenylketonuria 1 :
4 960; cystic fibrosis 1 : 6309; biotinidase deficiency 1 : 9253; congenital
adrenal hyperplasia 1 : 12 190 and medium-chain fatty acid acyl-CoA dehydrogenase deficiency 1 : 22 833. The other screened diseases showed a prevalence of about 1 : 100 000 or less.
Keywords: newborn screening, inherited metabolic disorders, congenital hypothyreodism, congenital adrenal hyperplasia, cystic fibrosis
Accepted: April 3, 2024; Published: May 1, 2024 Show citation
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References
- Grosse SD. Showing value in newborn screening: challenges in quantifying the effectiveness and cost-effectiveness of early detection of phenylketonuria and cystic fibrosis. Healthcare (Basel) 2015; 3(4): 1133-1157.
Go to original source... 
Go to PubMed... - Honzík T, Kožich V, Pešková K, Votava F. Laboratorní novorozenecký screening. Ces-slov Pediatr 2022; 77(1): 12-18. Go to original source...
- Metodický návod k zajištění celoplošného novorozeneckého laboratorního screeningu a následné péče. Věstník Ministerstva zdravotnictví ČR 2023; 17: 3-15.
- Lind-Holst A, Baekvad-Hansen M, Berglund A, et al. Neonatal screening for congenital adrenal hyperplasia in Denmark: 10 years of experience. Horm Res Paediatr 2022; 95(1): 35-42. Go to original source... Go to PubMed...
- Conlon TA, Hawkes CP, Brady J, et al. International newborn screening practices for the early detection of congenital adrenal hyperplasia. Horm Res Paediatr 2023. doi: 10.1159/000530754 Go to original source... Go to PubMed...
- Kharrazi M, Sacramento Ch, Comeau AM, et al. Missed cystic fibrosis newborn screening cases due to IRT levels below program cutoffs: a national survey of risk factors. Int J Neonatal Screen 2022; 8(4): 58-76. Go to original source... Go to PubMed...
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