Perinatal outcome of congenital heart disease in a population with high consanguinity

Objective: To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages. Methods: Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth. Results: Between 1 January 2005 and 31 December 2010, 1950 pregnant women carrying 2151 fetuses underwent a total of 2828 FEs. CHD was diagnosed in 152 fetuses (7.1%), and perinatal outcome was available in 120, among which 78 (65%) had consanguineous parents. Thirteen fetuses died in utero, while 86 (71.7%) survived. The most prevalent lesions included left heart obstruction (25.8%), conotruncal malformations (21.7%), septal defects (18.3%), and cardiomyopathy (15.8%). Correct diagnosis was achieved in 92.2% of the cases. Extracardiac malformations occurred in 48.3% of the fetuses and were associated with increased mortality regardless of the type of CHD (P<0.001, odds ratio 6.8, 95% confidence interval 2.7-17.5). Conclusion: Joint FE clinics detect most CHD with high accuracy. Consanguinity contributes to a higher prevalence of fetal cardiac and non-cardiac malformations. The presence of extracardiac anomalies is associated with an increase in perinatal mortality.