Abstract

This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland). All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively. This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.

Highlights

  • There has been increasing interest in the prenatal diagnosis of congenital heart disease (CHD) over the last decade, there is little epidemiological evidence regarding the effectiveness and impact of regionally organised screening programmes in this field.with the introduction of foetal ultrasonography in the early 1980s and the routine incorporation of cardiac scanning, it is possible to diagnose a wide range of CHDs during foetal life with a high degree of diagnostic accuracy, when the examination is performed at a specialised centre [1]

  • The aim of this study was to analyse the evolution of prenatal diagnosis of CHD in our local population and its repercussions for the prevalence rate of CHD at birth, using the reliable database of the Eurocat Registry of Vaud-Switzerland [9, 10]

  • 37 cases were excluded from our study (PFO, patent ductus arteriosus (PDA), and anomalies considered as variations of the norm), resulting in a total of 535 CHD cases included in our study

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Summary

Introduction

There has been increasing interest in the prenatal diagnosis of congenital heart disease (CHD) over the last decade, there is little epidemiological evidence regarding the effectiveness and impact of regionally organised screening programmes in this field.with the introduction of foetal ultrasonography in the early 1980s and the routine incorporation of cardiac scanning, it is possible to diagnose a wide range of CHDs during foetal life with a high degree of diagnostic accuracy, when the examination is performed at a specialised centre [1]. Allan et al reported a decrease in the prevalence of hypoplastic left heart syndrome (HLHS) in infancy due to the impact of prenatal diagnosis [6, 7] These data were confirmed by Bull in 1999 [2]. The potential impact of the widespread use of foetal echocardiography, increased prenatal diagnosis, and termination of pregnancy (TOP) in cases of foetal anomalies on reducing the prevalence of CHD at birth has not yet been assessed. All of these factors are likely to result in a significant change in the paediatric population with congenital cardiac disease, with a major impact on healthcare costs. The aim of this study was to analyse the evolution of prenatal diagnosis of CHD in our local population and its repercussions for the prevalence rate of CHD at birth, using the reliable database of the Eurocat Registry of Vaud-Switzerland [9, 10]

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