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Family History and Congenital Heart Disease

In the general population, about 1 percent of all children are born with congenital heart disease. However, the risk increases when either parent has congenital heart disease (CHD), or when another sibling was born with CHD. Consider the following statistics: If you have had one child with congenital heart disease, the chance that another child will be born with CHD ranges from 1.5 percent to 5 percent, depending on the type of CHD in the first child. If you have had two children with CHD, then the risk increases to 5 percent to 10 percent to have another child with CHD. If the mother has CHD, the risk for a child to be born with CHD ranges from 2.5 percent to 18 percent, with an average risk of 6.7 percent. If the father has CHD, the risk for a child to be born with CHD ranges from 1.5 percent to 3 percent. Congenital heart defects involving obstructions to blood flow in the left side of the heart have a higher rate of reoccurrence than other heart defects. If another child is born with CHD, it can be a different type of defect than seen in the first child. Some heart defects are considered to have autosomal-dominant inheritance, meaning that a parent with the defect has a 50 percent chance, with each pregnancy, to have a child with the same heart defect, and males and females are equally affected. Similarly, there is also a 50 percent chance that an offspring will not be affected. Consultation with a genetic counselor or genetic specialist is encouraged for women with congenital heart disease before becoming pregnant. In families with CHD either in the parents or offspring, fetal echocardiography can be performed in the second trimester, at about 18 to 22 weeks of pregnancy, to determine the presence of major heart defects in the fetus.

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