Abstract
Introduction: Congenital heart defects (CHD) represents the most frequent congenital malformation. Prenatal detection of heart lesions is based on cooperation of screening and specialized echocardiographic examination.
Methods: To assess the success of prenatal detection of heart defects (CHD) we compared the number of prenatal diagnosis with a known prevalence of CHD at birth as determined by prospective Bohemian "BOSS" study. The study established prevalence of all CHD at birth 6.16 per 1 000 liveborn newborns and 2.36 of those with critical forms.
Results: Between 1986 and 2012 were evaluated 2 996 of foetuses with congenital heart defects. A detection rate of CHD reached 47% during recent five years and detection of critical forms exceeded 80%. 1 612 (54%) mothers of foetuses with CHD opted for termination of pregnancy, 49% of them had an extracardiac heart malformations. 1 296 (43%) newborns were born with prenatally detected heart lesion and 90 (3%) foetuses died in utero.
Due to high termination rate of foetuses with CHD the number of children with several complexed heart lesions declined (hypoplastic left heart syndrome, pulmonary atresia, single ventricle, persistent arterial trunk, atrioventricular defect and Ebstein anomaly). Conclusion: The nationwide prenatal ultrasound screening programme enabled detection of 43% of all CHD in recent years.
Owing to severity of lesions and associated extracardiac malformations and cultural background, termination rate of foetuses with CHD remains high. High termination rate lead to significant decrease of postnatal incidence of several complex and severe CHD (such as hypoplastic left heart syndrome).