Genetic Counseling: Advice for Prospective Parents

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Genetic Counseling: Advice for Prospective Parents


Guest: Ms. Sally Shields – Prenatal Wellness

Host: Dr. Linda Austin – Psychiatry

Dr. Linda Austin: I am Dr. Linda Austin. I am interviewing Ms. Sally Shields who is Supervisor of Genetic Counselors in the Prenatal Wellness Center at the Medical University of South Carolina. Ms. Shields, let’s talk about some things a prospective parent can do even before conception, what advice would you give?

Ms. Sally Shields: The main thing we want people to think about is to take a daily vitamin. It can be cheap, expensive, it does not matter, any vitamin will do to reduce their risk for neural tube defects in their pregnancies. We in South Carolina have a greater risk for spina bifida and anencephaly which are defects of the neural tube, which is your head and your spinal cord. We have a greater risk than any place else in the United States. Nobody understands why that is. We know that if you supplement, not just from what you take in with your food, but if you supplement with folic acid in the time frame that the spine is developing, which is when that you do not know that you are pregnant, if you have that supplement on board then it reduces the risk of neural tube defects by 50 to 75 percent, and that is huge.

Years ago, there was a big push so that people understood this and knew about this. Essentially, you have to take a vitamin daily if you are of child bearing age because most pregnancies are not truly planned, and people were taking vitamins. Now, when I see patients for counseling, I routinely ask them if they are taking a vitamin before they got pregnant and probably less than 10 percent of the people I talk to are taking a vitamin. So, the information has kind of gotten lost. It is a simple thing. It does not have to be an expensive vitamin, so it does not have to be a big expense, but it is a huge thing. We, typically, do not have a lot of things that we can do to prevent birth defects and this is one that we can, and we just do not use it as effectively as we should.

Dr. Linda Austin: Who is a good candidate for preconception genetic testing?

Ms. Sally Fields: We would like to see people prior to pregnancy, so preconception. If they have a family history, previous child, close family member who has had a genetic disorder, they are at increased risk for a baby with a genetic disorder. We would like to see them before they are pregnant because, typically, when we start talking about gene or DNA testing, it often times is very complex. It is not as simple as what people think it is going to be, including a lot of the offices that send us patients. They will just say, do a test for Marfan syndrome, or whatever, and it is not that easy. A lot of times it takes a long time for some of these tests to come back, to be complete. We do not want to be in the confines of pregnancy to take up all that time for test results. So, people who have a family history of something that is going to increase their risk for a baby with a significant genetic disorder, that would be a good time to see them, before they are pregnant. Women who have illnesses of some sort that could affect their pregnancy would be ideal also, to see them before they get pregnant.

Dr. Linda Austin: Such as?

Ms. Sally Fields: Maternal diabetes, if they do not have great control over their diabetes, women who have autoimmune disorders. We see people who have had transplants who have to take medications because of their illness and they are concerned about their medications. I see, actually, a good number of people who have psychiatric disorders who have to take significant medications for their mental health. They worry about whether that could affect their pregnancy and they want to get on the fewest drugs possible and the lowest dose needed to control whatever disorder they have. Those would be people who we would like to talk to before they get pregnant.

Dr. Linda Austin: So, would you recommend, then, that before a woman gets pregnant, she should make an appointment with an OB/GYN to discuss some of these things, baseline?

Ms. Sally Fields: I think when a patient is in the doctor’s office, the OB/GYN, and they are at their GYN appointment, that is a good time to talk to the doctor about folic acid, about any situation they might have in their family. Most of the general population probably does not need to be seen in the preconception clinic, at Prenatal Wellness Center. It would be people who would have an increased chance for problems or, like I said, people who have significant disorders or problems with their own health that might need to be managed before they actually get pregnant. Their doctor can help them with that, I think, to tell who is a candidate for preconception and who probably does not need that.

Dr. Linda Austin: Thanks so much for talking with us today.

If you have any questions about the services or programs offered at the Medical University of South Carolina or if you would like to schedule an appointment with one of our physicians, please call MUSC Health Connection: (843) 792-1414.

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