The authors report their experience of echocardiography performed on a group of 736 pregnancies with specific risk-factors for congenital heart disease (CHD). The aim of the study was to evaluate the influence of specific risk-factors (established through the genetic counselling) in detecting fetal cardiac anomalies and diagnostic accuracy of extended fetal echocardiographic examination in high-risk pregnancies. Twenty-seven heart defects were observed (3.6%), of these 24 were detected at ultrasound. Specificity and sensitivity were 99% and 90% respectively. These results suggest the importance of an early detection of pregnancies at increased risk for CHD and confirm the good diagnostic accuracy of a multiple cardiac examination.

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