Prenatal Ultrasound Screening of Congenital Heart Disease in an Unselected Population: A 21-Year Experience

Study Questions:

What is the prevalence of congenital heart disease and the impact of a national prenatal ultrasound screening program on outcomes in a discrete patient population?


A comprehensive national registry was created, which enabled confirmation of pre- and post-natal findings clinically and by post-mortem examination. As part of the centralized health care system in the Czech Republic, all pregnant women underwent screening ultrasounds by obstetricians who had been trained by pediatric cardiologists. Women with abnormal screening ultrasounds were then referred for formal fetal cardiac evaluation. Post-natal examination, echocardiography, and post-mortem examinations were used to correlate post-natal findings with fetal ultrasonography.


Of 9,475 fetuses referred for formal fetal echocardiograms, 1,604 (16.9%) had congenital heart disease, of which 501 (31.2%) also had extracardiac anomalies. Over the entire study period (1986-2006), detection rates were highest for double-outlet right ventricle and hypoplastic left heart syndrome (HLHS) at 77.3% and 50.6%, respectively. There was improvement in detection rates over the course of the study. For the final years of the study, detection rate for HLHS was 95.8%, while transposition of the great arteries was diagnosed antenatally in 25.6% of fetuses. Termination of pregnancy occurred in 57.3% of infants found to have congenital heart disease.


The authors concluded that a centralized health care system and prenatal registry gives detailed data on the prevalence and spectrum of congenital heart disease.


The prenatal screening program described in this study consisted of a fetal ultrasound performed by obstetricians trained with a program provided by pediatric cardiologists. Goals of the ultrasound included obtaining a good-quality four-chamber view and visualizing crossing of the great arteries. There was significant improvement in detection rates over the course of the study, although diagnosis of transposition of the great arteries remained a challenge, with approximately three-quarters of fetuses going undetected. Prenatal diagnosis of transposition is important in that it allows the child to be born at a center where there is rapid access to interventions such as balloon atrial septostomy. An extremely high elective termination rate of 57.3% limits interpretation of the post-natal results of this study.

Clinical Topics: Congenital Heart Disease and Pediatric Cardiology, Noninvasive Imaging, Congenital Heart Disease, CHD and Pediatrics and Imaging, CHD and Pediatrics and Quality Improvement, Echocardiography/Ultrasound

Keywords: Prenatal Diagnosis, Infant, Registries, Czech Republic, Heart Defects, Congenital, Ultrasonography, Prenatal, Fetus, Pregnancy, Echocardiography

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