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Perinatal outcome of congenital heart disease in a population with high consanguinity
Insights
Consanguinity is linked to increased fetal heart defects and other malformations. Extracardiac anomalies significantly raise the risk of perinatal death in fetuses with congenital heart disease (CHD).
Area of Science:
- Medical research
- Fetal medicine
- Cardiology
Background:
- Congenital heart disease (CHD) is a significant concern in fetal medicine.
- Consanguineous marriages are known to increase the incidence of genetic disorders.
- Understanding the perinatal outcomes in these pregnancies is crucial.
Purpose of the Study:
- To investigate the perinatal patterns and outcomes of fetuses diagnosed with congenital heart disease (CHD).
- To specifically examine the role of consanguinity in the prevalence and outcomes of fetal CHD.
Main Methods:
- A retrospective chart review of fetuses undergoing fetal echocardiography (FE) was conducted.
- The study included 2151 fetuses over a five-year period.
- The primary outcome measured was survival at 28 days post-birth.
Main Results:
- Congenital heart disease (CHD) was diagnosed in 7.1% of fetuses.
- Among fetuses with available outcome data, 65% were from consanguineous unions.
- Extracardiac malformations were present in 48.3% of fetuses and significantly increased mortality (OR 6.8).
Conclusions:
- Joint fetal echocardiography (FE) clinics accurately diagnose most cases of CHD.
- Consanguinity is associated with a higher incidence of both cardiac and extracardiac malformations in fetuses.
- The presence of extracardiac anomalies is a strong predictor of increased perinatal mortality in fetuses with CHD.
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.
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