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Why Genetic Testing?


Now let’s jump into the main reason we’re here. And I’ll ask you a big question: “How do you know your baby is okay?” Have you thought about that? Wondered about it? I think you do almost from conception. It’s amazing — you find out you’re pregnant, get used to the idea, and then the next thing you know you’re thinking what about college and how am I going to pay for that? What are we going to do? Is it a boy or is it a girl? And are they going to be smart? We wonder are they okay and, in fact, we do a lot of things to make sure they’re okay.

Well, I can tell you that I’ve been through that as a dad. I have a big family. I have five children, a great wife; been married over 25 years and the kids are growing. They’re getting big. They’re leaving the house now. But you know as a dad, I can tell you, you never stop worrying about them. In fact, I bet all of you have already, to some degree, made sacrifices for your babies … already maybe there’s something you’ve changed. You can’t drink this, or you can’t eat that, or you’ve got to do this or you’ve got to do that. It’s interesting that moms and families are willing to do things sometimes at the beginning of a pregnancy or during a pregnancy that they wouldn’t otherwise do. I’ll explain that as we go along. Sometimes it causes a little trouble. It has to do with some of the testing that’s offered and we’ll get to that.

The second main reason that I’d like to talk to you and asked you to come here today is really to address this from my professional perspective. I’m a maternal-fetal medicine doctor, or a Perinatologist. We take care of moms with complicated pregnancies. Basically an MFM is a subspecialty of OB/GYN. I learned really quickly that I don’t know what each individual person wants or what you’re specific perspective is. I learned in our population, and in the civilian community, most moms, most families, who do the tests that we’re going to talk about today don’t really understand them. In fact, they’re confused by them. Sometimes, when moms would come to me with an abnormal test, after we talked about it, they’d say, “Oh, I didn’t understand that. If I’d known that, maybe I wouldn’t have done the test.” Now, for some moms it’s great and it’s perfect, but it really depends on you and your own specific individual needs and interests.

So wouldn’t it be nice to look in there? To say, “Hey baby, how are you?” To count those fingers and toes, to check out the gender, you know all those fun things. It would be nice to look in there or maybe even have them reach out. Now I know this picture is a little graphic but let me explain it to you. I think it makes an important point. This is a picture of a mom, that’s the uterus, and there’s a little hole in it. You can see that and you can see that little hand reaching out there, and some big hands. The big hands belong to a Perinatologist, another maternal-fetal medicine doctor named Joe Bruner. He’s a former Army guy. They were doing some surgery on this baby in the womb. They were fixing the baby’s spine because the baby had a spinal defect called spina bifida. And there’s some information that fixing the spine in the womb may actually help the baby do better long-term. So they were fixing the baby and that little hand came out and grabbed Dr. Bruner’s fingers and gave a good squeeze. And, you know, it was a camera opportunity, so they got a nice picture.

Well, it’s a neat story that they were able to fix the baby. Then they closed up the uterus and put it back inside, and closed up mom and woke her up and on she went. The downside is that about several weeks after this, the mom went into labor and that uterus, where that hole was, ruptured. They had to deliver this baby very pre-term. So, the baby had to deal with the prematurity issues. I don’t know about the really the long-term, but I do know that in the intermediate-term, that baby did pretty well. So there was a price to pay for trying to do that surgery. There was a price to pay for reaching into the womb, or having that baby reach out. And that’s the point I want to make.

We do a lot of things to test babies. The Purple Book outlines a whole bunch of routine testing that you’ll have. And some of you, all of you in fact, have already had a bunch of tests. Now you may not have thought of them as tests, but I’ll bet you when you sat down with the nurse at that first visit didn’t she have you fill out a whole bunch of, answer a whole bunch of questions? Some of them really personal, right? Infectious diseases, family history and all that stuff. Well, every one of those questions has a reason that we ask them. They actually help us to help you have a better chance of taking home a healthy baby and going home healthy because they help us look for risk factors. Okay, so the purpose of that interview is to identify things that maybe we should do a little differently for you, or a different medication or a different activity or a different intervention that we need to do to help you do well. The Purple Book will outline the kind of interventions that we do, and the usual things that we should do to make sure that you do okay.

Now, our assumption is that you want us to do them. My guess is that after you had that first visit with that nurse, she sent you off to the lab to give some blood and some urine and so forth? Now, they probably drew just a little bit of blood? No, they didn’t, did they? It was like five or six vials or something right, a whole bunch of blood. Now what did they do? What tests did we do? Any ideas? Well, we tested you for things like infections and so forth. Right, can you guess an infection that might be important to know about in pregnancy? HIV. HIV, yeah. Great. Now what’s the point? Why would we test you for HIV? It could be passed to the baby. Yeah. Exactly. It could be passed to the baby.

Now the question is does testing you help us decrease the chances that it would go to the baby. Hope so. Yeah, hope so. It does because if we don’t know a mom has HIV and she goes through her pregnancy and delivers the baby, unfortunately she has about a 25 percent chance that the baby would get the infection. If the baby gets HIV when they’re little, they do terrible; they just don’t do well. So that’s one issue. The other issue is obviously moms don’t do as well if we don’t treat them, but if we give moms medication that decreases the amount of virus in her bloodstream it actually not only helps her, but it helps the baby. So instead of a 25 percent chance that the baby would get it, we can reduce the risk all the way down to less than one in a thousand in most cases. So, just doing that test reduces the risk by 250 times in that specific instance.

The nature of most of the tests that we’ve done already are like that. They help us to help you. They give us some information that will help you. And that’s the idea so we’ve done all these routine tests, we’ve done those risk factors, we’ve done the interview, we ask you all those questions and send you to the lab.