Transcript episode #49:What to know about genetic testing for you and your baby
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In this episode of the podcast, I'm clearing up the confusion regarding genetic tests in pregnancy and I'm sharing a super special offer with you. Quick note, you will hear me mention in the episode that this is episode number 48, it is actually episode number 49, my apologies about that. So the show notes will be at www.ncrcoaching.com/episode49.
Welcome to the All About Pregnancy & Birth podcast. I'm your host, Dr. Nicole Calloway Rankins, a board certified Ob Gyn physician, certified integrative health coach and creator of The Birth Preparation Course, an online childbirth education class that will leave you feeling knowledgeable, prepared, confident and empowered going into your birth. Quick note, this podcast is for educational purposes only and it's not a substitute for medical advice. You can see the full disclaimer at www.ncrcoaching.com/disclaimer.
Well hello there. Welcome to another episode of the podcast. This is episode number 49. Thank you for spending some time with me today. I hope you are having an amazing day and on today's episode of the podcast, I have my good friend and high risk pregnancy doctor extraordinaire, Dr. Keisha Reddick on the show. Dr Reddick has been on the podcast before and I asked her to come back and talk about genetic tests in pregnancy. It's something that's changed a lot over the last few years and I'm not as up to date on it if I'm honest, because I don't do office practice anymore. As a hospitalist, I'm only in the hospital so I don't order or manage these tests. So I asked her to come on and clear up the confusion because I know there can be a lot of confusion about this. So in today's episode we talk about what genetic testing is, what is carrier screening, who should get screening, what the different types of screening tests are, when they can be done during pregnancy, how ultrasound fits into genetic screening, and then what happens if you have an abnormal test result.
Now, I created a chart on the show notes page that summarizes all of the tests that she's going to talk about. You can peek at that chart at www.ncrcoaching.com/episode49, that's the whole word episode, followed by the number four nine. So in www.ncrcoaching.com/episode49 if you'd kind of like a visual to go along with it. I know a lot of folks listen in Spotify and apparently Spotify doesn't actually allow you to see the show notes like other podcast players or put links there so you can easily get to my website. That was kind of brought to my attention in my Facebook group, All About Pregnancy & Birth. And side note, if you're not in my Facebook group, it's free. It's a great place to connect with other pregnant women and me as well. That's All About Pregnancy & Birth on Facebook.
But yeah, someone told me in the group that you can't see the show notes like you can on other podcast players. So I'm going to start saying it, the whole thing. So it's www.ncrcoaching.com/episode49. So E P I S O D E 4 9. All right, that clears that up. Okay, so before we get into the episode, let me do a quick listener shout out. This is a review that was left in Apple podcast and it is from DLC923. I like that. I like how it rhymes, and the title of the review says highly recommend and then the review itself says "This podcast is phenomenal. Highly recommend for any mom or dad to be." Well thank you DLC923 for that awesome review. I loved that. It was straight to the point. I really appreciate your kind words and you mentioned that this podcast is phenomenal.
Let me tell you something else that's phenomenal. I am offering this amazing end of the year discount on The Birth Preparation Course. December is a special month with a lot of meaning for me. In fact, the day that this episode is being released is actually my 40th wedding anniversary, so shout out to my husband Falcon. He is amazing. But December is also when we brought our first daughter home from the hospital after spending a month in the NICU and then my youngest daughter was born in December. And this month also marks the one year anniversary of when I started this podcast. I cannot believe it has been this long, so I'm doing something that I've never done before and definitely won't do again anytime soon. And that is from now until December 31st you can get the All Access Level of The Birth Preparation Course for the same price as the Essentials Level.
That is a $150 discount on the All Access Level of the course, and at the All Access Level you get increased access to me through live sessions and a private Facebook community. I can review your birth plan. We talk about topics in pregnancy and birth, we really go a bit deeper and beyond. You will not have this much access to a board certified OB GYN with the amount of experience that I have, I can guarantee you that. So this is a great opportunity for you to be knowledgeable, prepared, confident and empowered for your birth. That's what The Birth Preparation Course does for you, and get that increased access to me for a huge, huge discount. So definitely check it out. Go to www.ncrcoaching.com/enroll and use the code "December" in order to claim your discount. Remember, there's a 30 day money back guarantee on The Birth Preparation Course. You can look in it. If you're not happy with it, then you'll get your money back. So check it out. Again, that's www.ncrcoaching.com/enroll and use the code "December" and that will be in the show notes as well.
All right, so let's get into today's episode with Dr. Keisha Reddick on genetic testing in pregnancy.
Nicole: Hey, Dr. Reddick, welcome back to the podcast.
Keisha: Well thank you. I'm excited to be welcomed back.
Nicole: Yes. You were on back on episode 6 of the podcast talking about high risk pregnancies. That was a great episode and I will link to that in the show notes. And I asked you to come back today to talk about genetic testing during pregnancy. I know things have changed a lot in the last few years and I am just not up to date on it anymore since I don't do prenatal care anymore. So, I know you will give folks all the information they need.
Keisha: Yes. I'm excited to tell people and to dispel the myths about prenatal testing.
Nicole: Awesome. So for those who may not have heard you on episode 6, just tell us a little bit about yourself and your work.
Keisha: Well, I am a maternal fetal medicine doctor, so I take care of patients who are high risk. High risk by definition can be maternal complications or conditions or I will take care of patients who have babies that have genetic disorders or birth defects. Part of my job is to do consults. So sometimes I'll see patients who may have a certain condition and for me to have a consult with them and give recommendations to a doctor. But we also have our own panel of patients that we take care of and that we deliver here at our practice. I'm also a teacher, so I teach and do resident education and I am a wife and I am a mother of three kids. So I have a busy life. But it's a good life.
Nicole: Yes, yes, yes, yes. Busy. And she is one of the best MFM doctors I know. Alrighty. So what is genetic screening and carrier screening? How about we start with that?
Keisha: Okay, so genetic screening is a method for us to screen a population and in this case it's pregnant women, for certain genetic conditions. And when we're thinking about screening, we want to be able to pick up the most common ones. Screening doesn't mean that your baby has any of those conditions. Rather it may mean that you have a higher risk for a condition or sometimes there's a little bit of a clue that maybe your placenta may not be working as well later on in the pregnancy. So for patients who are seen during their pregnancy, they can opt to do that or can they opt to do not do, it is completely optional. On the other hand, carrier screening is a little bit different. Carrier screening is looking at more of the genetic material of the actual mother. So there are some genetic conditions, for example, sickle cell disease. In order for someone to have sickle cell disease, they have to get a copy of that particular trait or gene from each parent. So if I have a mom who does a carrier screening panel that may pop up on that panel and we may say, "Hey, you know what, we need to test the dad." And that gives us an idea of how to statistically predict if your child is going to have that actual condition. So they're somewhat similar in that they're both screening tests, but the answers that you're getting are a little bit different.
Nicole: Got it. So genetic screening looks for issues that may be going on with the baby, whereas carrier screening looks for whether or not mom has a gene that may confer a higher risk for her baby.
Keisha: Correct, correct.
Nicole: Okay. Okay. So who should consider these tests? Because one of the things I know that I see happen a lot, and I was probably guilty of this when I was in the opposite as well. It's just like, okay, it's time for you to get your genetic testing. Here's the slip and without much discussion about it. So who should should get these tests?
Keisha: Okay, well according to the American College of OB GYN, patients, all patients should be offered genetic screening and carrier testing. Now if the patient on likes tonight do it, that's fine. But in doing so with offering the patient this testing, I think we have to add additional counseling for it because as I said earlier, a screening test is just that is screened to you. It's not diagnostic. So it's not going to say this is what your baby has. That's a different type of test we would have to do to get that answer. So sometimes if patients are doing the test without a whole lot of thought, what happens when they have an abnormal result is that we have to then circle back and have you to make some decisions. And some of those decisions are, okay, well do you want to do some additional testing? And so we can get information more definitive about what's going on with the baby or are you okay with just what the result you get right in front of you?
Keisha: So in general, regardless of their risk, high risk or low risk, those patients should be offered screening. Now, higher risk patients. And when I say high risk in this setting, I'm talking about women who are advanced maternal age who are, you know, greater than 35 at delivery or if they had a prior child with a chromosome abnormality or if there is a genetic syndrome that runs in their family, that may be a different subset of patient that may need more diagnostic testing because a screening test might not give the answers that they're looking for. But for the general population, everybody should be offered the test. But with the appropriate counseling, of, you know what to do when we get results back.
Nicole: Got it. So everybody should be offered it. But again, I think that piece is crucial that we miss a lot is what happens with the results. So people can make a decision about whether or not they want to go down that pathway.
Keisha: Absolutely. Cause I think most people think, well, nothing's in my family. You know, this doesn't run in my family. So this is not gonna be an issue. Well, most things aren't in your family. Most things when a chromosome abnormality comes up, it's often sporadic. It's just random. So just because it isn't something that runs in your family doesn't mean that you may not be affected by it.
Nicole: Exactly. Okay. Okay. And we're going to get into what happens when a test result comes back abnormal. Get to that a little bit later. But first let's just talk about what are the different types of tests? I know there's noninvasive, there's nipped, there's nuchal translucency. I don't even know if we do that anymore. There's quad screen. Okay, so quad screen. So what, tell us all the different types of tests that are available.
Keisha: So we'll take a trimester by trimester. That's probably the easiest way to break it down. So in the first trimester, patients can be offered something called a nuchal translucency. The nuchal translucency is an ultrasound. As performed in a doctor's office, you have to have a certified sonographer to do the nuchal translucency and basically it's a measurement on the skin thickness on the back of the baby's neck and there's a cutoff value to over a certain millimeters is abnormal under a certain amount we consider it normal. That is a screening test for things like down syndrome. It is not the best screening test alone, so just a nuchal translucency alone, your screening accuracy is about 75%. Combined with blood work it increases your detection rate. So typically a patient gets the nuchal translucency tests or ultrasound and then they have blood draw with it. With that blood draw you have maternal biochemical markers, analytes and depending on those levels in calculation with that nuchal translucency measurement give you an overall risk result.
Keisha: So some patients will do a first trimester screen and then they may do a subsequent screen that adds back onto that called a sequential into the second trimester to get an overall result. The benefit of that is that you're kind of getting early information in the first trimester, you know before you have to wait till the second trimester to get your final result. Some patients, if you have difficulty doing the ultrasound or getting a good nuchal translucency, that's adequate. Some patients may do what we call an integrative screen. The integrative screen is both the first trimester blood draw and then a second trimester blood draw, but then you don't get an answer until the second trimester. So unlike the sequential where you're kind of in a preliminary or early results in the first trimester, you're gonna have to wait.
Nicole: Okay. I think I feel like that would be hard.
Keisha: You know, I tell patients all the time, waiting is the hardest thing, but you know for some patients you know who have a difficult scan. That is the thing that's awkward. Now these are offered to typically low risk patients. Okay. So patients who are less than 35, assuming that they have no genetic history that's pertinent to their current management. What's recently come on in the market, and when I say recent now it's been well over seven years, going on eight years now, is something called noninvasive prenatal screening or noninvasive prenatal testing. This test is a blood draw. So all of the sequential and the integrative are what we call noninvasive testing. And this says that it's just a blood draw on the mom. So all the biggest harm is a needle sick. But for this particular test, they use different technology in how they get their answer.
Keisha: So right now in our blood, when you're pregnant, you have fragments of your baby's blood cells and you, okay, so we are our children, right? And so what they do is they take that and they analyze it and they say, okay, if you have equal amounts of each chromosome, this is probably a normally normal chromosome baby. Okay? But if I have a lot of chromosome 21 then that puts this patient at a higher risk for down syndrome. Now the detection rate for this test is greater than it is for both the sequential or first trimester screening, as well as they integrative it simply because it is a snapshot of the DNA. Now there are some caveats with this test. When this was first developed from a research and development standpoint, it was designed for high risk patients and high risk is defined in this scenario, again as greater than 35 women who have had a prior child with a chromosome abnormality or ultrasound findings.
Keisha: So sometimes when you do a test and there's not any of those particular risk factors and you apply it to someone who is younger, say for example a 20 year old and you do this test, well if the test comes back abnormal, it may be hard to determine just how abnormal it is. So the thing that most patients think about this test is, oh, this is the gender test. It does give you the gender, which is helpful because there are some sex chromosome abnormalities out there that you know, can have a recurrence risk. However, you know, if I have someone that is 20, 21 years old, well guess what, they're less likely to have a baby with down syndrome because they are young and their eggs are young. So if this test comes back abnormal for them, well is the test going to be truly abnormal or is it going to be sort of abnormal?
Keisha: Are we going to have a 60% chance? Are we going to have a 40% chance of this being a truly abnormal test? So you have to kind of, I tell patients, you know what, if it comes back abnormal, what do you, what's your, what's your game plan? Are you going to worry? Are you going to want us to do more testing? I do think noninvasive testing has been great for patients who do not want you to do invasive testing like an amniocentesis or CVS, but it does have a few limitations and one of those is the age range. It's not going to pick up every single thing. It does not replace an amniocentesis, nor does it replace a CVS. Sometimes CVS, this is just for chorionic villus sampling. So that is a test that's performed in the first trimester and that's an invasive procedure where you get the actual chromosomes.
Keisha: But that said, this non invasive prenatal testing does not replace that. There are a lot of them on the market right now. So you know, we need, a lot of times we will see patients who've already had the testing done and then they come to us for the anatomy ultrasound. To that end, it does not replace the anatomy ultrasound because just because a baby has normal chromosomes doesn't mean that the baby has normal anatomy. So you can have a baby that has a heart defect and they can have normal chromosomes. So it's key for patients to know that, you know, it's not the insurance plan. Okay. You still need to have adequate follow up. And then ultrasound. The other test that's available is in terms of blood work is a second trimester screen. Some people call it a quad screen. This is only performed in the second trimester between 15 to 20 weeks.
Keisha: You know, I don't see this as much except for patients who may be have established care a little bit later and have missed the window to do the nuchal translucency. Or if they were, you know, couldn't decide if they wanted to do testing earlier on and now they're 17 weeks and I'll say well you know at this point, this is the other test we offer for low risk patient. We are less likely to offer a quad screen to someone who is over 40 because it's almost always going to come back abnormal because it factors in your age. So for patients who are older, we really need to give them a better option for testing. So those are the non invasive testing. So your first trimester screen, your integrative sequential, your quad screen. And then the one that's most recent is the noninvasive prenatal testing or the gender test.
Nicole: Got it. Now I feel like I see that offered almost routinely to anybody is that...
Keisha: It is, it is. When they first rolled this out on the market, it was supposed to be designed for patients who are over 35 but because when you do a test it needs to be validated for the population you're doing it on. And so it wasn't as validated for younger patients. I will say this, you know, if you're doing a sequential or integrated screen, you may actually pick up some other stuff that the non invasive prenatal screen won't pick up. So it is offered a lot. Sometimes it can be complicated if a patient has like uterine fibroids or if I have a patient that is significantly overweight, they might not have enough fetal fraction for them to run the tests. And so sometimes we'll have to have patients that have blood draws or alternatively patients may elect to do an invasive blood test or invasive procedure.
Keisha: And the two invasive procedures are the amniocentesis, which is a sampling of amniotic fluid that's typically done in the second trimester and on into the third trimester you can do an amnio really after 14 or 15 weeks, that sample is sent to lab and what's in the amniotic fluid is the fetal skin cells. And so they grow those cells out and you will know, hey, the baby has this many chromosomes. Your baby has the correct number of chromosomes or hey, your baby has too many chromosomes. The other option is a chorionic villus sampling or CVS. That's performing primarily in the first trimester and it is an invasive procedure that involves a needle, but it goes into the placenta. So they take a little bit of those cells from the placenta and they send that off to the lab similar to an amniocentesis and get a similar result.
Nicole: Got it. Okay. So I feel like because the nuchal translucency requires a skilled technician to do the measurement, maybe that's why noninvasive is becoming more prevalent.
Keisha: I think so. And I think the people that people in general want information earlier, especially about gender but you know, and I think that, you know, patients don't want to wait, you know, and if there's an alternative that maybe doesn't stack up quite like an amnio but it's darn close, well I don't blame them. I would choose that as well.
Nicole: Like can you do that at any point during pregnancy or is it only...
Keisha: So you can do it at any time. The original studies for the companies that started the test validated it to about 22 weeks. That said, you know, if we have a patient that comes in as advanced maternal age and they have otherwise normal ultrasound or maybe they have a small baby, you know, I think it's reasonable if you have a 28/ 30 weeker patient. If, however, I have a patient that has multiple anomalies or complex things that I see on ultrasound, I might say, you know, you can do this test, but it's really not going to give us all the information that we really need to know to take care of your baby. You may want to consider doing an amniocentesis because not only can I look at the number of chromosomes, but I can have the lab to look at each individual chromosome and see if there's little pieces of DNA that's missing. That test is called a micro array and micro array can pick up on a lot more details of information than say just the karyotype and it's going to pick up more than a blood test.
Nicole: Oh, okay. That's a lot. So you can get the blood test, the nuchal translucency or the quad screen. Those are the first trimester quad screen in the second trimester. And then if you have an abnormal result you get, and we'll talk about that, the amniocentesis or the CVS. The micro array you said adds like additional information potentially to, okay.
Keisha: Correct. So, so most times if we're doing an amnio, we add a micro array because there's new, the evidence shows that you're going to get more information. So if you're going to send it off, you want to get all done as much as you can.
Nicole: Got it. Got it. So as far as it sounds like the clear benefits of, or what do you see as the biggest benefits of genetic screening or carrier screening?
Keisha: I'm glad you asked that. So you know, and my practice as a lot of patients are nervous when they come to my office because they feel like I'm going to tell them some bad news or they feel that I'm going to say, Hey, you need to do something else with your pregnancy. And often, you know, I get the response of, well how's that going to change anything? You know, if the baby has a chromosome problem, can you fix it? And I'll say, no I can't. And they'll say, well, what's the point of me doing the test and my response is, my job is to get you and your baby in the right place for delivery. Okay. My job is to make sure this baby is brought here into this world safely. And so if I could get all the information I need to know, I might learn that there's genetic syndrome that I need to do certain other tests on you that I need to deliver you at a certain time. Maybe you need to deliver at a NICU that has other sub-specialists. It helps us in guiding your care and more importantly, we don't want anything to delay us trying to figure this out after your baby is born. I want the pediatricians to have everything they need. So when your kid is here, they can get on top of things as opposed to them having to run tests and try to figure things out. We don't want that delay and we want you in the right place for delivery.
Nicole: Yeah, and that can make a really big difference. I don't think people necessarily realize the difference in availability of specialists at different hospitals and not all hospitals have the doctors that babies need. So it can be very important to be prepared ahead of time so that your baby has the, you know, the right people around him or her when she, you know, when they're born. And then also it helps you maybe get mentally.
Keisha: Absolutely. Absolutely. I think sometimes people just don't want to know. You know, it's like, I don't even want to know about this. I don't want to tackle it. And I'll say there is power in knowing, there is power in knowledge. If we know that there is something complex with this baby, I want us to start preparing. I want you to be prepared. I want you to get information. There's support groups for moms out there. We have a team of people here in our office that reach out to patients. We have our genetic counselors that help them. So I have to really tell patients, you know, it's not about what I can change. I can't change the genetics, but there's a lot of other things that I can help and work on before your baby gets here.
Nicole: Got it. So maybe at the very least, at least if you declined genetic testing, ask, you know, if there happens to be a problem, is the hospital where I am, do you have most of the resources available to deal with issues or how would that work out?
Keisha: Exactly. So sometimes what I'll do if we have patients with certain findings on ultrasound, I'll call the doctor and say, hey, you know, I'm worried about this kid and I know she had a normal quad screen, but I'm concerned there may be some other things and I think she should deliver here. And I'll tell the patient, I'm going to talk to your doctor and have a conversation with them and you can see them. What we'll do is we'll co-manage patients until about 32-34 weeks and I'll say, stay with your doctor and then we'll take on everything after that point. That way you can deliver here because I want to have everybody lined up. The beauty of my current practice is that we have, you know, great partners. We have a phenomenal team. We have nurses and we have genetic counselors and they work very diligently on coordination of care because a lot of people don't understand. They don't see what's going on behind the scenes. And so behind the scenes we are calling the neonatologist, we're setting up consults for you to meet with them, we're setting up tours for you, we're meeting with the pediatric surgeons, we're having conferences, we're sending emails, we're creating watch lists is what we have to let everybody on the team know what's happening with you. So there are no gaps and no lapse in your care.
Nicole: Okay. Well I guess that's it then. Let's just go ahead and talk about like what happens when you have an abnormal test result. Obviously from what you're saying at your institution, there's a tremendous amount of coordination to make sure everybody has the right support things in place. But what happens from that moment of that initial concerning result to getting to that point of, you know, getting plugged into that system.
Keisha: So if, if they've started off with a blood test, then the patient's notified. So all of our tests, we call them back out, positive or negative, they get a phone call and we actually bring them in because a conversation about if your baby has down syndrome is not one that we need to have over the phone. So by the time the patient gets here, they meet with our genetic counselors who are extremely skilled at discussing the genetic condition with the patient. They have a host of resources for the patient and if there's a blood test, we will say, you know, we probably need to confirm this with an amniocentesis. Or with some type of invasive testing. And so sometimes the patients elect to do it, sometimes they don't. But for those who would like to do it, the one thing I want people to keep in mind is doing genetic testing also helps me to determine what's the chances of this happening again?
Keisha: Sometimes it is just lightening and it's sporadic and it's random. But sometimes we may have a little glitch in our DNA, but we don't know it because otherwise we are normal healthy people. But when that DNA matches up with your partner's DNA, then it becomes a problem with those chromosomes forming like they should. So sometimes patients don't think about, well in the future what's going to be my chances? I can quote you what your chances are if I have that information. So if a patient says, okay, well I'm going to do an amnio, we do that right here in the office. Amniocentesis in the past, I think the quote at risk for complications was about a half a percent it is significantly less than that when done in skilled hands. And that's done only by the MFM doctors here at my practice so they can have amniocentesis and go home the same day.
Keisha: I usually tell them to take it easy. That test does take about 10 days to result out because it is cells that have to grow any culture. Once we get that back, we notify the patient and at that point we talk to the patient about what's their decision making. Because certainly we have some conditions that unfortunately are incompatible with life outside of the mom. So we have, you know, conditions that, you know, we need to ask patients, what are your desires for this pregnancy? How can we help you come to a decision? How can we help you through this pregnancy? So once you get an abnormal result, if we confirm that it's truly abnormal, then we go down that pathway. If we confirm that, hey, maybe this was a false positive, then we may say, you know what? I think you're okay. Let's have another later on in the pregnancy to make sure growth is normal.
Nicole: Okay, so you bring them back in person, which is really important I think, to discuss the results and then just kinda individualize it from there. And have that important discussion about, you know, if it's something that's really severe, is it an option if women want to end their pregnancy, I'm not going to get into the politics of pregnancy termination. But it's one of the reasons why politics needs to be out of pregnancy termination because this can be an incredibly difficult decision for women to make for a highly desired pregnancy. So you have to have these really, really tough discussions. And do you only use your genetic counselors just for abnormal results or can anybody see a genetic counselor?
Keisha: Anybody can see a genetic counselor. I mean, I will have patients, if they have a family history of heart defects, they can see a genetic counselor. They often will see the genetic counselor. If the patient's just advanced maternal age, they can see them. Or if the, you know, the example I gave of the patient who's, you know, 20-21 years old or you know, she's a younger woman who is interested in the non invasive prenatal screening, I may say, hey, you know what? I want you to sit down with genetic counselors so that we can really explain this very thoroughly to you so that you have a clear picture of what testing you may want to do. So it's not just patients who have abnormal results. We receive a full gamut of patients with different conditions.
Nicole: Got it, got it. Now we talked a lot about the benefits of genetic screening. Are there any harms to getting this done?
Keisha: For the screening to me, no, cause you're getting information. And I might be biased because I'm an information seeker and a planner to the actual invasive tests such as the amniocentesis and the chorionic villus sampling. You know, there's a very, very small risk for complications that can lead to miscarriage. We quote a one in 1600 risk for amniocentesis and less than 1% for chorionic villus sampling. That's said, you know, it sounds very scary to patients. You know, like you're sticking something in me and we do it under ultrasound guidance so we're not sticking the baby. Although there are situations where there's fetal care centers, they'd have to stick the baby for procedures. But we do this under ultrasound guidance and in some cases, you know, if I have a baby that has, you know, the unfortunate case of a lot of anomalies, the anomalies will put the patient at a higher risk for miscarriage than me doing the amniocentesis.
Nicole: Right, right, right. And most, I would say a lot, well, how would you say, how many people do chorionic villus sampling? That's not...
Keisha: That is not common. No, no. There's, you know, there's not as many providers that do it and since the noninvasive prenatal screening or testing or nips came out, we really just don't have patients to do it. It's also some tests based on your geographic location. So there's certain parts of the country that are more likely to do invasive testing, whereas there are other parts of the country that are hands off and do not want any invasive testing at all.
Nicole: Got it. So, but most, MFM still do amniocentesis?
Keisha: Yes. Yes.
Nicole: And I will say I had an amniocentesis with my first, um, with my older one, and of course I had extra fluid. I had polyhydramnios so you could probably have, you know, thrown a needle from across the room and got the fluid. But, ladies, it's really not that painful. You think it sounds terrible in order to have a needle stuck through your belly. But it's actually not bad. It's a tiny needle and they draw off not that much fluid. I think the needle to numb it up can probably hurt more than just doing the test.
Keisha: Oftentimes patients say are you going to know me up. I'm like, well that's two sticks and it's not going to, you know, numb everything up. I'm also reminding them and say, hey, the needle that we use to actually, it's probably smaller than what you get blood drawn and very tiny. And I tell them, I'm like, it's the anticipation of it all is the anticipation of something and more times than not, patients say, oh you know what I wasn't asking to have
Nicole: How long does the amniocentesis take?
Keisha: It takes me more time to set it up than actually to do it. It's more time to, you know, put all the things that I need out and you know, clean off the mom's abdomen. It takes me more time to do that and do the ultrasound and look than it does for me to I, it takes me less than a minute to actually do the amnio.
Nicole: Yeah. It's not a long procedure at all. I mean it sounds complicated but it is not. It is not long and it's not painful. So if you ever get to that point, ladies, where you have to consider that, just have that background information that it's not a terribly like burdensome test at all.
Keisha: No, not at all. Not at all. And patients are often shocked when they're like, oh, we can do it today. And they're like, really?
Nicole: Now you mentioned this briefly, but just to touch upon it again one more time because I think this is also important about how ultrasound fits in with genetic testing and screening.
Keisha: So ultrasound is great, but nothing is perfect. There is no test that is 100%, and is going to tell us everything. Ultrasound allows us to do direct visualization and any evaluation of the baby. So we are able to look at the brain anatomy. We're able to look at the heart, we're able to look at the kidneys, we're able to look for markers for chromosome abnormalities, but ultrasound detection is not perfect. You know, for example, for down syndrome, the ultrasound detection rate is 50%, 60 maybe at best. So what that translates into is that half the children with down syndrome will have a normal ultrasound. So I tell patients this is the piggyback if you want information is the blood test because combined we can know that, hey your risk is a lot lower. If you're just going on the ultrasound alone then I cannot guarantee you that. I mean I could tell you what I see today is normal. I think everything is okay and I can do a guess based on your age, but it is hard to do one without the other. You can do that. But if you're looking for answers, if you truly are, you know the information seeker, you need to know that you have to do additional testing besides an ultrasound. On the contrary, if you have the testing and it's normal, it does not eliminate if the baby has an abnormality, it's not going to pick that up.
Nicole: Got it, got it. So like you said, it goes both ways. Like you can't get a normal genetic screening test and that that doesn't mean everything's normal cause you can still see some structural issues. And then on the flip side, a normal ultrasound does not guarantee that everything is okay with the baby's chromosomes with those genetics.
Nicole: Yeah. And I've seen, I've seen babies born particularly with down syndrome cause that's one of the more common chromosome issues. Babies born with down syndrome where it was a surprise because the ultrasound was normal.
Keisha: Yes, yes. Yeah. That is what I don't want for my patients. I mean things can happen, but you know, I tell him, I'm like, I just don't want you to have that in the delivery room. You deserve more than that.
Nicole: Right. Yeah. Yeah. It can be a little bit that, that's a hard situation. It's hard to explain guys, what it feels like when you see a baby that's born and you know that there's something going on and you have to kind of explain that and the, you know, this moment that's happy... So I can say, you know, you, you can make your own choices obviously, but I can say that from experience that I think most people in that situation would have preferred to know earlier.
Keisha: Right. And that's why I tell people, I said, I really do believe that I'm led to do what I'm doing. I really do. And it's not me trying to convince you to do anything that you don't want to do. I am just solely here to provide the best care for you and your baby. And sometimes I need a little bit more information for me to do it in the best manner that I can.
Nicole: Exactly. And just, just to be clear, you also focus on not just like, oh the baby has this problem or this issue. You're also taking into account how this woman is dealing with this emotionally you are addressing that as well.
Keisha: Oh, absolutely. Because here's the thing, you know, especially you know, for all patients. But you know my heart goes out to the women who we know that their baby has so much complexity that it's more than likely incompatible with life once, once they're delivered, that woman is going through the rest of that pregnancy and people are asking her questions about her baby or people want to touch her belly, you know? And so when I have patients that are in that scenario, when they come back, I'll say, you know, tell me about your life right now. How are things going at home? Because once you start having these diagnoses, it changes the dynamics of a lot of things for those patients. You know, it sometimes it can put a strain between interpersonal relationships because people process things very differently. For their family at home if they have children, trying to explain that to your child, that there's something going on with the baby, that's very, very challenging. So I teach residents here, so I have to tell them, listen, you know, I know you just talked to this patient about this condition, but I want you to think about everything else she has going on in her life right now it's a lot, and have to think about those things in your process of evaluating and caring for this woman in that difficult time.
Nicole: Exactly. Exactly. Now, just to finish up, we will say that most people have normal testing, so yes. Yeah, yeah, yeah.
Keisha: 97% will have no birth defects. The birth defect rate is like 3%.
Nicole: Got it. So, so just be reassured that most of the time it's normal. But if you happen to fall into that category where it's not, there are certainly resources and there's some benefit to knowing ahead of time so you can be prepared for it on all levels really.
Keisha: Absolutely. Absolutely. And there is power in knowledge. There's power in knowing. It's scary. I'll tell patients I know it was scary. I know it is, but I'm here to hold your hand through it all because we need to do this the right way. We need to get all the pieces of the puzzle together. I'm not, I don't know everything. I don't, I can't tell everything about this particular thing, lab test or from just this picture, I need help and this is how we can figure this out.
Nicole: Gotcha, gotcha. So just to wrap up then, what is your favorite piece of advice regarding genetic testing? I wonder if it's that there is power in knowledge rather. Would that be your favorite piece? Was this something else?
Keisha: I would say number one there is power in knowledge. I think that's in everything in life. You know it's scary but when you know it, you can start to process it. And that our goal, all of us, is to have you in the right place for delivery and have all of the resources we need available for you and your baby. And sometimes that requires you to have a test that you're nervous about that. That you've heard rumors about there's myths about it and that I'm gonna stick the baby. I am not going to do that. I want to take care of you and this is part of it. And so, and I always tell patients even when they're there, I said listen, I've hit you with a lot. You don't need to make a decision because I'm sitting here in front of you. You can go home, you can come back tonight, you can come back tomorrow. I'm here, I'm here. I don't want you to feel like you have to do something right now. So take your time. Cause I say listen, sometimes doing nothing is doing something and that's okay.
Nicole: a really good point. Yes. It doesn't mean that just because you're not doing something right that moment, you know, I can't say it any better. Doing nothing is sometimes doing something. Yes, yes.
Keisha: Yeah. Sometimes you need that time to process that and what we'll do in our practice is we'll call the patient in a couple of days. We give you some space, give you some time and we'll circle back and talk with them and we give them our phone numbers. So you know, I want patients to know that we want you to be empowered from your pregnancy and we can empower you a lot of ways and we can empower you through a tough pregnancy. If a baby has a problem, we can still have empowerment from that and that may involve some testing. It may involve some tough topics, but we can get you through it.
Nicole: Well that is just a perfect way to end. I don't know any other way to end. A better way to end. Other than that, thank you so much for being here. This was great information. It got me up to date on things too. So I know it's going to be super, super helpful to the women listening.
Keisha: Well thank you for having me.
Nicole: Yeah. Where can women find you if they're interested?
Keisha: If they are looking for me, I practice in Savannah, Georgia and at Memorial Health University Hospital. My practice is called High Risk OB Care. So you can find me from a professional standpoint there or you may find me in the local Target on a personal level.
Nicole: Yeah, yeah, yeah, yeah. Keisha, I've known her for a long time. We trained together in residency. She's one of my best friends and she has three kids in like different stages. Yes, she has a little tiny toddler and then the middle one. Hey, he's in, he's 10?
Keisha: He's in middle school and I have another one in middle school. So at less than a year I'll have a preschooler, a middle schooler and a high schooler. So you know, if you see me on the streets walking around, it's ok, I'm gonna be ok...
Nicole: Well. Again, thank you so much for being here and I'm like I said, super, super helpful information and I know women will find it useful, so thanks.
Keisha: Thank you.
Nicole: Well, what do you think? I found the information quite helpful. I know it can be like overwhelming, but I really think Dr. Reddick broke it down so it's easy to understand and I hope you felt the same way too. Now you know after every episode when I have a guest on the show, I do something called Nicole's notes and that is where I talk about my top three or four takeaways from the episode. So here are Nicole's notes from today's episode.
Number one, just a quick reminder that most pregnancies are completely normal. I know we said it during the conversation, but just know that most of the time this testing is going to be completely normal. So you know, start from a place of knowing that that's going to be true. We're just want to prepare you for those instances where it may not be
Okay. Number two, remember that this test is optional. I know some women don't want to do the test and you know that's totally understandable, totally within your rights. It's not something that you have to do. Just want to be sure that you are making an informed decision when you do so. So that's the purpose of providing this information so you can make an informed choice about what's best for you and your pregnancy. Now we'd say again that I do think you should consider getting it if, you know, you're at a hospital that doesn't have as many resources, not all hospitals that have labor and delivery units have resources for higher level of care. So if you happen to be at a higher risk too based on your age or health history or your family history, then maybe do you consider going ahead and getting it even if you have some hesitancy. But again, it's totally your choice.
Okay. Next thing is remember that it doesn't pick up everything and then also doesn't mean that everything is normal. My own personal case demonstrates that I had normal genetic testing in the second trimester. Actually my first trimester screen was a little bit off, but it was thought to be related to age, but I had normal screening in the second trimester and then later went on to have a child that had an intestinal malformation called duodenal atresia and that was picked up on ultrasound. So you can have normal genetic testing and still have issues potentially. It doesn't guarantee that everything is okay.
And then the last thing is just to reiterate, Dr. Reddick's point is that there is power in knowledge and not just for genetic testing like we talked about, but as she said, and that is what you should do in terms of your pregnancy and your birth. There is power and knowledge. So soak up all the knowledge and information you can. So again, you can make informed choices about what is best for you in your unique situation. That is what we are here to do.
Okay, so that's it. I would love to hear your experience with genetic testing. Were you confused about the tests? Did you get an abnormal result? What happened with that? Let me know in the All About Pregnancy and Birth Facebook group. And again, if you haven't joined you can go to Facebook and search for it or they will be a link to join in the show notes. Also be sure to subscribe to the podcast in Apple podcast or wherever you listen to podcasts and you know I would love it if you leave review in Apple podcast. Number one, I just love to hear what you think about the show and it also helps other women find this show and just help the show to grow. So if you don't mind leaving me that review in iTunes honest review, then please do so. Or Apple podcast, I should say, it's not called iTunes anymore.
And then of course do not forget about that amazing discount on The Birth Preparation Course. This end of the year special just for December, you can get the All Access Level for $147 it is normally $297 so you get that increased access to me at that huge $150 discount. This course will ensure you are knowledgeable, prepared, confident and empowered for your birth. You've got nothing to lose. If you're not happy with it for some reason within 30 days, just ask to get your money back and you can do so. No questions asked. So go to www.ncrcoaching.com/enroll and use the code "December" to get your discount before the end of the month.
Now next week's episode, the final two Tuesdays of the year are holidays, Christmas Eve and New Year's Eve. So I'll be rebroadcasting a couple of episodes. One of them is on the gut microbiome in pregnancy and there is some really fascinating and interesting and informative information in that episode. You'll definitely enjoy it if you haven't heard it already and if you've heard it before, I think you'll love hearing it again. And then I'll end the year with the episode that is perhaps the most meaningful one to me. So of course come on back next week. And until then I wish you a healthy and happy pregnancy and birth.
Today's episode is brought to you by Women's Wellness coaching by Dr. Nicole Calloway Rankins. Head to www.ncrcoaching.com to check out my free one hour mini course on how to make your birth plan, as well as my comprehensive online childbirth education class, The Birth Preparation Course, with over eight hours of content and a private course community. The Birth Preparation Course will leave you knowledgeable, prepared, confident, and empowered going into your birth. Head to www.ncrcoaching.com to learn more.