Transcription:
Pregnancy & Genetic Testing: Do I Need It?

Deborah Howell (Host): Well, if you're a young couple thinking about starting a family, you hear a lot about genetic testing these days, but what is genetic testing and who can best take advantage of it? Let's talk with Cheryl Dickerson, the prenatal genetics program coordinator at WakeMed, maternal fetal medicine about pregnancy and genetic testing. This is WakeMed Voices, the podcast from WakeMed Health and Hospitals. I'm Deborah Howell. Welcome Cheryl.

Cheryl Dickerson: Hi, thank you for having me.

Deborah Howell (Host): So good to have you on the podcast today. Let's dive right in if that's all right, who can have genetic testing?

Cheryl Dickerson: Anyone really. It is a time in a patient's life, particularly, leading up to pregnancy and, once somebody is pregnant. When people have a lot of questions about how genetic conditions or inherited conditions in their family may impact their pregnancy. And we have a variety of genetic tests that are available that may be able to help answer some of those questions. And so part of what I do when I'm consulting with a family is, getting information about their medical history, their family history, and finding out what their questions are so that I can then help guide them, about genetic testing and. How genetic testing may, provide them with answers that will inform their own healthcare, the healthcare for their baby and once their baby is born.

Deborah Howell (Host): Beautiful thing. It's a beautiful thing you do. So what can genetic testing tell us?

Cheryl Dickerson: Well, there is no single genetic test that can tell everything. And sometimes we use a combination of genetic tests to gather information, Some genetic tests can indicate whether a couple is at higher chance of having a child with a particular genetic condition, before they even get pregnant. While other genetic tests are performed once the pregnancy is already ongoing and those genetic tests can provide information about whether or not a pregnancy has a genetic condition. So it just depends on at what stage, a patient or a couple is at, in terms of when they're presenting for genetic counseling as to what genetic tests are potentially available to them.

Deborah Howell (Host): Sure. Let's talk a little bit more about that timing. When should genetic testing be performed before or during Pregnancy?

Cheryl Dickerson: Well, again, that depends on the couple and when they would like to start gathering their information. Some couples come in for genetic counseling before they start embarking on getting pregnant, because they would like to have information in advance to help them decide, do they even want to attempt pregnancy? And if they do decide to attempt pregnancy, what they can do to, determine whether or not the pregnancy has the genetic condition in question. And then talk through how that information might be useful to them. during the pregnancy.

Other times the folks that I'm speaking with are already pregnant. They may not have been aware that there was some testing they could have done before pregnancy. So, they're already pregnant. And now, the tests that we can do, will depend on what questions they're trying to answer.

Deborah Howell (Host): Got it. All right, let's get down to the nitty gritty now, how and where is genetic testing performed?

Cheryl Dickerson: Genetic testing, can be performed through the OB GYN office, it can be performed through my office. So a maternal fetal medicine office, and it depends on what genetic tests that someone is interested in having. Some tests, can only be performed through a maternal fetal medicine office because in some cases, the test, it requires that a procedure be done during the pregnancy to obtain a sample from the pregnancy to facilitate the genetic testing.

So what I mean by that is. There are, two procedures that can be done during pregnancy to access the pregnancy's genetic information. One of those tests is called coriatic villa sampling or CVS for short. That is a procedure that is performed in the later part of the first trimester. And it involves getting a sample of the placent. The second procedure is called amniocentesis, and that is a procedure that is, performed, as early as the 15 weeks of pregnancy.

And it involves obtaining a sample of the amniotic fluid, that is surrounding the baby. So those are special. Procedures that, maternal, fetal medicine physicians are trained to perform. And, that is why those two tests in particular can only be done through a maternal fetal medicine office in most cases. There are other genetic tests that just require a blood sample from mom. So some OBG, Y offices will, draw blood from mom in their office and order the genetic test.

Whereas other, OB GYN providers will refer their patients to maternal fetal medicine so that, Genetic counselors can provide more information about what tests may be appropriate for that particular patient's question. And then proceed on with actually, getting the blood sample and, sending it to the laboratory for the test.

Deborah Howell (Host): Sure. And once the tests are done, how long does it usually take to get the results?

Cheryl Dickerson: That depends on the test. In some cases the result can be available within a week. And in other cases, the result might take several weeks. So it just really depends on what type of genetic test is being ordered.

Deborah Howell (Host): Got it. That makes perfect sense. And now say you get your results. What should you do next?

Cheryl Dickerson: The next step, in terms of understanding the result, could be speaking with your OB GYN provider, and, or the genetic counselor that you've been working with to understand what a quote unquote normal result means versus what a quote unquote abnormal result means. And depending on the result, the genetic counselor can then explain, and guide people to understand how that result does or does not impact their healthcare or next steps in terms of, additional testing or evaluation that may be indicated for their pregnancy.

Deborah Howell (Host): Okay. Is there anything else you'd like to add to our conversation today, Cheryl?

Cheryl Dickerson: Well, I think that one of, the most helpful things that, people can do in lead up to a consultation with a genetic counselor about genetic testing, is to know their family history, in terms of, who in the family may have, a hereditary condition, or a birth defect or other conditions that have required additional medical care. Because that is helpful to the genetic counselor in terms of pulling that information and combining it with the patient's medical history, to help understand what genetic tests might be, informative for them. And knowing your family medical history is a fairly easy thing to do, and, is quite helpful in terms of your overall evaluation.

Deborah Howell (Host): Absolutely. Cheryl, we really, really appreciate all your good work and it's been so great to have you on today. Thank you so much for your time.

Cheryl Dickerson: And thank you. I've enjoyed it.

Deborah Howell (Host): That's Cheryl Dickerson, the prenatal genetics program coordinator at WakeMed, Maternal Fetal Medicine. I'm Debra Howell with WakeMed Voices. Brought to you by WakeMed Health and Hospitals in Raleigh, North Carolina. Thanks so much for checking out this episode of WakeMed Voices to learn more about locations and services provided by WakeMed, Maternal Fetal Medicine, please visit wakemed.org. And if you found this podcast helpful, be sure to share it on your social channels. That'll help us out a lot, and be sure to check out the entire podcast library for topics of interest to you. Thanks for listening and have a great day.