Pediatr. praxi. 2023;24(2):111-115 | DOI: 10.36290/ped.2023.033

Lethal syndromes in pediatrics - three cases of trisomy 18

MUDr. Michaela Ducháčová1, doc. MUDr. Jan Pavlíček, Ph.D.1, 2, 3, MUDr. Eva Pavlíčková4, MUDr. Markéta Nowaková, MBA1, 2, MUDr. Bořek Trávníček, MBA1, 2, Mgr. Iva Kuzníková, Ph.D.5, Bc. Tereza Broďáková5
1 Klinika dětského lékařství, Fakultní nemocnice Ostrava
2 Lékařská fakulta, Ostravská univerzita, Ostrava
3 Centrum biomedicínského výzkumu, FN Hradec Králové
4 Mobilní hospic Ondrášek, Ostrava
5 Centrum provázení, Klinika dětského lékařství, Fakultní nemocnice Ostrava

Edwards syndrome is a significant genetic abnormality with an unfavorable prognosis. It has a high rate of prenatal detection, which significantly affects its occurrence in the pediatric population. Postnatally, the dominant organ pathology is heart defects, clinically these patients always present with psychomotor impairment and failure to thrive. Despite the high percentage of early lethality, some patients may live longer than one year, and it is, therefore, to set up complex care for them. This care is available, including the management of organ pathologies. Complex or palliative care concepts are of considerable benefit in these children.

Keywords: Edwards syndrome, trisomy 18, heart defect, multiple anomalies.

Accepted: March 31, 2023; Published: April 5, 2023  Show citation

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Ducháčová M, Pavlíček J, Pavlíčková E, Nowaková M, Trávníček B, Kuzníková I, Broďáková T. Lethal syndromes in pediatrics - three cases of trisomy 18. Pediatr. praxi. 2023;24(2):111-115. doi: 10.36290/ped.2023.033.
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