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.
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, several points seem well-established:
- Women who have had composite graft surgery (including an artificial aortic valve) of the aortic root need special guidance because of the potential for harmful effects of warfarin (such as Coumadin®) on the developing fetus. While it is thought that prior aortic root surgery decreases the risks associated with pregnancy for women with Marfan syndrome, this does not eliminate all risk since other aortic segments can enlarge and tear.
- Any pregnancy in a woman affected by Marfan syndrome should be considered “high-risk” (a term obstetricians use) and her aorta should be evaluated by echocardiography at least every three months.
- Delivery should be by the least stressful method possible. There is current controversy regarding whether a controlled vaginal delivery or a Cesarean section imposes less stress for the majority of women with Marfan syndrome. The decision regarding the best delivery method for a particular woman should be made after careful consultation with an obstetrician familiar with all relevant issues. Cesarean section is not absolutely necessary because of Marfan syndrome, but may be indicated for any of the usual reasons that would apply to any pregnancy
- Women are often advised to complete childbearing early in life.
- Certain medications used in the treatment of Marfan syndrome cannot be used during pregnancy due to a risk of birth defects and fetal loss. These include angiotensin converting enzyme inhibitors (such as enalapril or captopril) and angiotensin receptor blockers (such as losartan).
Note: If a woman is diagnosed with Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome, there are additional risks when considering becoming pregnant. Women with Loeys-Dietz syndrome have a risk of aortic dissection and uterine rupture during pregnancy and directly after childbirth. Pregnancy may also be very dangerous for women with vascular Ehlers Danlos syndrome. Obstetric complications include risk of uterine rupture during labor, damage to the vagina and perineum, bleeding, and rupture of blood vessels and the colon. If you are diagnosed with Loeys-Dietz syndrome or vascular Ehlers Danlos syndrome, or think you may have one of these conditions, consult with a genetic counselor and knowledgeable doctors before considering pregnancy.
Download the document below to learn more about pregnancy and family planning in Marfan syndrome.