Laboratory newborn screening in the Czech Republic: results in 2010–2022 period
Authors:
Votava Felix 1; Kožich Viktor 2; Pešková Karolína 2; Chrastina Petr 2; Hedelová Monika 1; Vinohradská Hana 3; Friedecký David 4; Holubová Andrea 5; Gaillyová Renata 6
Authors place of work:
Klinika dětí a dorostu, 3. lékařská fakulta, Univerzita Karlova a FN, Královské Vinohrady, Praha
1; Klinika pediatrie a dědičných, poruch metabolismu, 1. lékařská fakulta, Univerzita Karlova, a Všeobecná fakultní, nemocnice, Praha
2; Oddělení dětské hematologie, a biochemie, Lékařská fakulta, Masarykova univerzita, a FN Brno
3; Oddělení klinické biochemie, Lékařská fakulta, Univerzita, Palackého a FN Olomouc
4; Ústav biologie a lékařské, genetiky, 2. lékařská fakulta, Univerzita Karlova a FN Motol, Praha
5; Oddělení lékařské genetiky, Lékařská fakulta, Masarykova, univerzita a FN Brno
6
Published in the journal:
Čes-slov Pediat 2024; 79 (3): 133-135.
Category:
Prevention in pediatrics
doi:
https://doi.org/10.55095/CSPediatrie2024/022
Summary
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:
Cystic fibrosis – congenital adrenal hyperplasia – newborn screening – inherited metabolic disorders – congenital hypothyreodism
Zdroje
Korespondenční adresa:
doc. MUDr. Felix Votava, Ph.D.
Klinika dětí a dorostu FNKV a 3. LF UK v Praze
Šrobárova 1150/50
100 00, Praha 10
felix.votava@fnkv.cz
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3. Metodický návod k zajištění celoplošného novorozeneckého laboratorního screeningu a následné péče. Věstník Ministerstva zdravotnictví ČR 2023; 17: 3–15.
4. 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.
5. 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
6. 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.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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- Laboratory newborn screening in the Czech Republic: results in 2010–2022 period