Recurrence of Congenital Heart Disease in Cases with Familial Risk Screened Prenatally by Echocardiography

Objectives . To evaluate the recurrence of congenital heart disease (CHD) in pregnant women with familial risk who had been referred for fetal echocardiography. Material and Methods . 1634 pregnancies from 1483 women with familial history of CHD in one or more relatives were studied. Fetal cardiologic diagnosis was compared with postnatal findings at 6 months or at autopsy. Results . Total recurrence rate of CHD was 3.98%, 4.06% in single familial risk, 2.9% in double, and 5% in multiple risk. It was 3.5% in case of one previously affected child; 4.5% with 2 children; 5.2% with the mother alone affected and 7,5% with father alone affected and 3.5% with a single distant relative. Exact concordance of CHD was found in 21.5% and a partial concordance in 20% of cases. Conclusions . Our data show a higher recurrence rate of CHD than previously published data and high relative risk ratios compared to normal population.