Prenatal detection of congenital heart defects and its consequences

Authors: V. Tomek 1;  J. Gilík 1;  H. Jičínská 2,5;  J. Pavlíček 3;  J. Navrátil 2;  D. Čutka 4;  P. Vlašín 5;  M. Lacinová 4;  J. Marek 1;  J. Škovránek 1
Authors‘ workplace: Dětské kardiocentrum FN Motol a 2. LF UK, Praha 1;  Dětská kardiologie Pediatrické kliniky FN Brno a LF Masarykovy univerzity, Brno 2;  Oddělení dětské a prenatální kardiologie, Klinika dětského lékařství FN Ostrava 3;  Centrum lékařské genetiky s. r. o., České Budějovice 4;  Centrum prenatální diagnostiky, Brno 5
Published in: Čes-slov Pediat 2018; 73 (5): 284-290.



The aim of the study was to assess an effectivenes of prenatal detection rate of congenital heart defects (CHD) and to analyse the impact of pregnancy termination on postnatal incidence of CHD.


Prenatal diagnosis rates for CHD were compared with known incidence of CHD in children (based on the study by M. Šamánek – BOSS).


Prenatal detection rate of CHD varried between 39–49% in 2011–2015. Termination rate was 46.3% (1093 from 2358 fetuses) with high proportion of extracardiac lesion (526 fetuses, 48.1%). The highest detection rates (reaching 100%) were in single ventricle, atrioventricular defect and hypoplastic left heart syndrome. A detection rates of other critical heart lesions are increasing: transposition of great arteries (48%) and coarctation of the aorta (35%). Owing to high pregnancy terminations the postnatal rate of most CHD is declining: atrioventricular defect, hypoplastic left heart syndrome, pulmonary atresia, common arterial truncus and single ventricle.


The nationwide prenatal screening programme enabled detection of almost half fetuses with CHD. High pregnancy termination rate has an important impact on changing spectrum of postnatal incidence of heart lesions with significant lowering of severe and/or complex heart defects often combined with extracardiac defects.

Key words:

congenital heart defect, prenatal diagnosis, echocardiography, fetus


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Neonatology Paediatrics General practitioner for children and adolescents
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