Common Questions about Pregnancy and Genetic Conditions
Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as Marfan syndrome. Before making any decisions, parents should understand the many options now available, as well as the potential risks to the child and the mother.
A genetic counselor can discuss the options with you and provide insights.
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I have Marfan syndrome and I want to have a baby. What should I consider before pregnancy?
Pregnancy poses additional risks to women with Marfan syndrome because of the increased stress on the heart and blood vessels. While there is no clear distinction between women who can and cannot tolerate pregnancy, there are important considerations including:
- The existence of significant heart valve problems or aortic disease
- The current aortic diameter.
- Whether or not the woman has had aortic surgery
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What should I do before I become pregnant?
• Have an examination with your family doctor or internist to evaluate your overall health.
• Visit your cardiologist and have an echocardiogram to make sure your aorta is not at a size that would make pregnancy too risky.
• See a perinatologist (maternal-fetal medicine specialist or high risk obstetrician) to talk about specific issues related to pregnancy and Marfan syndrome.
• Consult with a clinical geneticist or genetic counselor to help you and your partner understand how Marfan syndrome is inherited and to learn about the choices you have.
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What is the chance that my baby will have Marfan syndrome?
When one parent has Marfan syndrome, each child has a 50 percent chance of inheriting the disorder, regardless of the gender of the child or the affected parent. If both parents are affected, there is a 75 percent chance that the child will be affected. A child who inherits the Marfan gene from both affected parents would be severely affected and is often associated with fetal loss or catastrophic complications shortly after birth.
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Pregnancy and Marfan Syndrome: An Update from Melissa L. Russo, MD
Marfan syndrome is a connective tissue disorder that has effects on the heart, blood vessels, ligaments and bones. The aorta is the main artery that brings blood from the heart and carries blood to the entire body. People with Marfan…