“CVS and Amniocentesis: What are the various genetic tests we can send? – Part 1” – with Dr. Tamar Goldwaser

It’s always great to talk with MFM’s geneticist, Dr. Tamar Goldwaser, to learn about the fastest growing area of study in healthcare, genetics. In part one of this episode, Dr. Fox asks Dr. Goldwaser to describe the differences in genetic and prenatal tests that can be performed to learn more about a baby’s genetic predispositions and potential disorders prior to birth. There are many different types that reveal different pieces of information, so hearing it from the doctor who will interpret your results is always beneficial.

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Dr. Fox: Welcome to today’s episode of “Healthful Women,” a podcast designed to explore topics of women’s health at all stages of life. I’m your host, Dr. Nathan Fox, an OBGYN and maternal-fetal medicine specialist practicing in New York City. At “Healthful Women,” I speak with leaders in the field to help you learn more about women’s health, pregnancy, and wellness. Dr. Tamar Goldwaser. Tamar, welcome back to the podcast. How are you doing?
Dr. Goldwaser: Good. Thank you. Thanks for having me.
Dr. Fox: How’s the wonderful world of genetics going?
Dr. Goldwaser: It’s always good. Love it.
Dr. Fox: It’s always exciting. And you…yeah.
Dr. Goldwaser: Oh, it’s interesting. Yeah.
Dr. Fox: Yeah. And you’re now a multimedia sensation. You’re everywhere. You did the whole grand rounds for Inglewood Hospital and you’re filming with Montel. You’re doing all this good stuff, right?
Dr. Goldwaser: It’s fun. People want to know about genetics, which is great.
Dr. Fox: Yeah. As we’ve said before, this is the most rapidly expanding area of healthcare, of medicine, maybe of all science currently and in the near future, for sure. It’s just unbelievable how much is happening with genetics.
Dr. Goldwaser: It is. And I’m so happy that you are doing a lot of segments on it because I think it’s great to bring it to patients and doctors. And I’m glad that people are asking questions. And it’s hard because there are not enough people who work in the field of genetics. So I’m definitely happy to put the word out with you.
Dr. Fox: Yeah. And I think that today’s podcast what I thought we would focus on is really, I would say, probably helpful for people who are considering undergoing either a CVS or an amniocentesis. And we’ve spoken about these on the podcast before, what are they, who would get them. But, sort of, to go over, what are the possible genetic tests that we could order, right? And whether someone should get all of them, some of them, none of them? Because I think a lot of times when people, you know, they say, “I want a CVS, I want an amnio.” Or they’re deciding whether they want one, they’re not really even sure what exactly are we testing for? Like, what’s going on in there?
And there are options and it can be confusing. So I think this is a really nice maybe primer for people beforehand to know, sort of, in a sense, what they might want. Obviously, there’s gonna be a conversation that happens with, like, a human, like, a genetic counselor, one of the doctors to make a final decision. But I think that maybe listening to this podcast first will help people prepare for that conversation so it’s not all new material to them, so these aren’t, like, new concepts they’re trying to figure out the day of the test or the day before the test, which may be a little bit nerve-wracking.
Dr. Goldwaser: Yeah. So we can have informed consumers.
Dr. Fox: Yeah. That’s the goal. I think the concept is that there’s, sort of, varying degrees you can look into, or various depth into the genome where we could look based on exactly what we ask the laboratory to do. And this is really no different from if one of us were getting tested ourselves as an adult or a child, like any genetic…anytime you’re on a genetic test, there are options, right? It’s not like, you know, “Just run the genes.” It doesn’t work like that. You have to tell the lab specifically what we’re looking for, and the same is true with a fetus. Correct?
Dr. Goldwaser: Yeah. Definitely. Depending on what test is run, you can learn various types of results. So just like when you send someone’s blood, you’re not necessarily checking their lipids and their blood count and their enzymes, you send blood and then you have to check off on your little sheet, what the lab is supposed to look for. And so, yeah, absolutely. So, for amnio and CVS, and I’ll let you begin the conversation, but when we look at something like a set of chromosomes, that’s different than looking at a specific gene or looking for sections of DNA that could be missing or extra.
Dr. Fox: Exactly. And just to be clear, in this podcast today, we’re only gonna be talking about genetic tests because there are other tests that can be run from specifically an amniocentesis sample, sometimes CVS, looking for certain potential, like, infections or other things you do with the fluid. But today, we’re gonna focus just on genetic tests. So the first, sort of, level, the way I think about it, sort of the most basic, in a sense, test is something called the karyotype. What exactly is a karyotype?
Dr. Goldwaser: Great question. So a karyotype is a test that looks to see how many chromosomes does this person have? And most humans have 46 chromosomes. And chromosomes are actually pretty big pieces of coiled-up DNA. And in each chromosome, there are thousands of genes, and there’s a lot of DNA in each chromosome. And usually, people get 23 chromosomes from their mother and 23 chromosomes from their father. And you have this set of 46 chromosomes in the nucleus in every single cell of your body except for red blood cells.
And so when you do a karyotype, sometimes it’s called a chromosome analysis, in the laboratory, what they do is they actually have to look at the cells that are retrieved, so cells from an amniocentesis, and they have to actually freeze the cells at a point in time where the chromosomes are tightly packed so that you can actually see them under a microscope. And so you need to have live actively dividing cells in order to do a karyotype, and then using certain lab methods, they take the cells, they arrest the cells during their cell cycle when the chromosomes are tightly packed. And then they take a photograph. It’s an electronic photograph, which is then looked at under a microscope, and professional cytogeneticists are able to look under the microscope and recognize, based on the way that they appear, which chromosome is which.
So, it ends up looking like a pool of spaghetti with different squiggles and they can actually piece them apart and say, “Okay, here we have two of chromosome number 1. Here we have two of chromosome number 2.” And so forth. And they’ll put it together and be able to say, “Yes, indeed, this patient or this fetus has 46 chromosomes and everything is accounted for.”
Dr. Fox: A few things from that. Number one, the reason this test is not done immediately, it takes a certain amount of time, is you have to put the cells on, like, a culture dish and let them start growing and dividing in order to get them in a place where you can do it. So, meaning a karyotype is not something you can get back the next day. We’ll talk about things you can get back the next day, but a full karyotype you can’t because they need to start growing and dividing, you know, like a plant. You know, you bring it, you water it, you feed it. It takes some time to start growing. The same is true for these cells. So it does take some time.
The second thing is the idea is that we have 46 chromosomes and they’re arranged as 23 pairs. Each of the chromosomes, number 1, number 2, number 3, so forth, to 23, and the 23rd is the X and the Y, or the X and the X, they look different from one another. Meaning chromosome 2 looks different from chromosome 4, from chromosome 12, and that’s why we can tell it apart. You know, it’s not just that there are 46 chromosomes, it’s that they’re arranged as 23 pairs of chromosomes and there isn’t, you know, too many of chromosome 2 or too few of chromosome 6 or whatever it is.
Dr. Goldwaser: Exactly.
Dr. Fox: And that’s important. That’s how they tell them apart, which is not easy when you, sort of, look at it yourself. You’re like, “Wow, these look pretty similar.” But yes, the professionals can actually tell which one is which.
Dr. Goldwaser: And it’s called banding. Like, they’re all different length, like, slightly different lengths. And some of them have, like, certain bands or sections that look darker or denser than others. And that’s why we have the cytogeneticist to tell us what’s what.
Dr. Fox: So what would…and not specific diseases per se, we’ll get to that. But what conceptually could they tell from a karyotype other than this person has 46 chromosomes arranged as 23 pairs? What could they find?
Dr. Goldwaser: One type of finding would be that there is not two of a certain chromosome, rather three. Or there’s not two of a certain chromosome, rather there’s just one. So they could tell you if there’s an entirely extra chromosome or an entirely missing chromosome. So an example of an extra chromosome is Down syndrome, which is caused by trisomy 21, which means that you have 3 copies of chromosome 21. And another example is Turner syndrome, where there are, instead of having two sex chromosomes, a female just has one X chromosome. So it’s called monosomy X, one copy of chromosome X. And so those types of conditions can be identified.
And also what they could see, because the specialists know how to identify each chromosome by looking at it, they can also find if a person happens to have one piece of a chromosome or actually two whole chromosomes attached to each other. So there’s something called a translocation where a part of one chromosome is attached to another. So you could have a piece of chromosome 21 attached to a piece of chromosome 11, for instance. And so translocations can either be balanced where that patient has all the DNA that they need, just that two chromosomes are attached to each other, but they can also be unbalanced where somehow or another when the two chromosomes got stuck together, a portion of the DNA got lost. And so that person may actually be missing some key sections of DNA.
Dr. Fox: Right. So in that situation, when there’s an extra chromosome, what they’ll see is instead of 46 chromosomes, they’ll say, “Wait a second, there’s 47 here,” and they’ll find out that the extra one is, let’s say, the 21st chromosome and say, “This is trisomy 21.” Obviously, it could be a different chromosome that’s extra. Or in the second example you gave, there’d be a whole chromosome missing, say, “Wait, there’s only 45 in here,” and they’ll tell you what’s missing. The ones you mentioned are specific conditions. It could be with any of them. It tends to be with this that those are the more common ones because, for example, if there was, let’s say, trisomy two, an extra second chromosome, and this is sent on to CVS or amnio, usually those fetuses don’t make it to the point of a CVS or amnio, they would’ve already miscarried. If there’s gonna be an abnormality, it would commonly be something like Down syndrome or Turner syndrome.
One of, sort of, the analogies I give when I’m talking to people is it’s almost as if you had a set of encyclopedias in your house. I know that for our listeners, you may not know what encyclopedias are. You can google it. It was a set of books that were basically A through Z and you would open it up, and that was, like, our Google when we were kids. Like, if you needed to know something, instead of going to Google, because it didn’t exist, you would go to like…If I wanted to learn about, you know, antelopes, instead of Googling antelope, I would go to the encyclopedias, go to A, find antelope, and it would tell me, you know, a page or two about antelopes.
So, okay, that’s what they are. And then essentially, what a karyotype is, is sort of going into someone’s living room, looking at the 26 books, and saying, “Yeah, you have all the books A to Z. They’re in the right order. None of them are upside down. None of them are broken in half.” And that’s, sort of, like, the level of analysis you’re getting. Now, it happens to be with chromosomes, it’s a big deal if you have an extra or missing chromosome. But that’s, sort of, the level of discern that we’re getting from a karyotype genetically.
Dr. Goldwaser: Yeah. I like that analogy. It’s like a bird’s eye view, “Do I have my library intact? Do I have all the books?” So the chromosomes in this analogy are the books. So, everyone’s accounted for, you don’t have doubles, you’re not missing anything. And it is a bird’s eye view. It’s not a very high-powered look at the chromosome, but it’s very important because each chromosome is so packed with so much DNA that a full extra or a full missing has a big impact.
Dr. Fox: Right. And I would say on amnio or CVS, pretty much 100% of people are gonna have this test done, right? It’s very, very unusual to do an Amnio or a CVS and not get a karyotype. That’s, like, almost always phase one. Even if you weren’t concerned about it specifically, like if you’re looking for a specific reason, almost always it’s just part of, like, the routine basic analysis that’s done. Correct?
Dr. Goldwaser: Correct. And it really was the first level of genetic testing that came out. So, historically speaking, as we go, we’re gonna talk about different types of tests. So, karyotype was the first genetic test where you just wanna know if you have 46 chromosomes or anything different from that.
Dr. Fox: Now, there is a technology available that we call FISH where you can get some of the results of a karyotype or like a karyotype the next day or in two days. So what’s going on there with that test?
Dr. Goldwaser: So, FISH stands for fluorescent in situ hybridization. And what’s done there is they take a few cells from the sample, put them under the microscope, and in the mix of the dish, they put probes or actually stickers that are labeled with certain fluorescent colors. So one sticker for chromosome 21 is gonna glow green, for instance, and a sticker for chromosome 18 is pink, and so forth.
And so a standard FISH test on a CVS or amnio is going to throw stickers for chromosomes 21, 13, 18, X, and Y on a smaller sample of cells from the specimen. And if the sticker sticks, then you’ll see two signals in every cell for these chromosomes. Two for chromosome 21, 2 for 18, 2 for 13. If it’s a girl, you’ll see two for the X chromosome. If it’s a boy, you’ll see an X and a Y. And so that’ll tell you, “Okay, we have the expected dosage of these chromosomes.” But it’s not really a karyotype because the sticker doesn’t tell you if the entire chromosome is present or missing, it just tells you that the segment that the sticker attached to is there.
And so for each chromosome, they just select a certain unique sequence that the probe will stick to that’s unique to that chromosome. And so we assume if it sticks and you see two signals, you assume that means that the entire chromosome is there. And you also assume that this small sample is representative of the entire amniocentesis sample. So, it’s usually correct. It’s about 98%, 99% of the time correct. And the final karyotype will usually match the FISH test. But sometimes they’re different because there’s more DNA being looked at when you do the final chromosome analysis, and the karyotype/chromosome analysis actually gives you a full picture and you can see the entire chromosome. So you can see if something is missing a piece or if there’s a translocation. And so you get much more information from the final karyotype, but FISH is a nice test when you really are pressed for time and you wanna get at least some preliminary results very quickly. You can get those results within one to two days.
Dr. Fox: Right. I mean, it’s essentially…it’s a lab technique to get some of the information quickly, but like you said, it’s A, not all of the information, and B, it’s not even exactly the most reliable information for what you’re looking for. It’s pretty reliable. And so if you get a normal FISH, it’s usually very good for those conditions. And an abnormal, it’s usually not good, but not 100%, and we really always wait for the final to know for sure what’s going on with that particular specimen. But it’s a nice option. And is there a reason not to do the FISH test?
Dr. Goldwaser: Oh, that’s a good question.
Dr. Fox: Thank you. This is a tough podcast. I’m not throwing softballs at you. I’m really getting deep in there.
Dr. Goldwaser: Because FISH is not 100% diagnostic, I don’t always like to order FISH because I think it just…it adds an extra charge for the patient. So I don’t want…
Dr. Fox: Potentially.
Dr. Goldwaser: …people to have to pay for tests. Potentially.
Dr. Fox: Right. Not always.
Dr. Goldwaser: And also, because depending on your lab, a FISH test may come out with something where they say, “In one cell, we found this finding, but in some of the other cells, we found another finding.” And then that can cause a lot of anxiety, obviously. They may say some of the cells were normal and some were abnormal, and then you still have to wait for final chromosome analysis. You have to take the FISH results in context. So if your fetal or, you know, your sonogram was looking really good and your pretest probability or your level of suspicion that there’s something going on is low, and then you get maybe some kind of mixed results on FISH, then you’ll stay suspicious and you’ll say, “Look, let’s wait for the final because everything else looks so good.” And, you know, we don’t want you to make any kind of decision based on preliminary results. Like a decision, let’s say like, you know, even a termination, let’s say. So I’ll really urge people to wait. And sometimes that’s really torture for our patient to sit there and wait another two weeks feeling, you know, disconnected or worried or losing sleep for two weeks or more waiting for final results.
And also, because it’s about 99% accurate and it’s only looking for a certain number of the chromosomes, right, it’s only looking for chromosomes 21, 13, 18, X, and Y, a lot of patients who’ve already done aneuploidy screening, let’s say they did NIPT where they did a blood test that predicted the dosage of those exact same chromosomes, and if that was low risk, then, to me, I don’t feel it’s worth to do another screening test for the same set of five chromosomes if you already have a very low level of suspicion that those are gonna be abnormal. So I feel like it’s almost double screening before you just get to the final results.
Dr. Fox: Yeah. And there’s another…one of the technical issues is, for a CVS at least, frequently in order to do a FISH, they have to remove a portion of the sample for FISH testing. And sometimes a sample is not huge in a CVS and that could make the full analysis take some more time potentially. So that could be a downside. I tend to agree with you.
Dr. Goldwaser: Yeah. I forgot to say that that’s one of my biggest things. But I am always concerned that the FISH lab is gonna take too much of my sample, especially with CVS like you say where, you know, you don’t have a massive specimen and you just worry if different labs are gonna be doing different parts of the testing. Especially if I’m not gonna make a final decision on FISH results, I’d rather give the greatest majority of the specimen to the people doing the chromosome analysis/karyotype and microarray and all the other things we’re gonna talk about.
Dr. Fox: Yeah. I agree with you. I find that if everything is normal going into an amnio or CVS, and people are doing it mostly for…not because they’re worried about aneuploidy and extra missing chromosome, you know, trisomy 21, 13, or 18, they’re doing it, you know, just reassurance or one of the other tests we’re talking about. There’s not much value in the FISH because they’re not getting a lot of information they didn’t already have. And if something comes back abnormal, it’s more likely than not gonna be a false scare that’s gonna go away when you get the final result. And you’re just causing weeks of anxiety.
On the other hand, if someone has a real scare, like their testing is abnormal and highly suggestive of trisomy 13 or 18, and you’re doing an amnio or a CVS for that reason, I find the FISH can be the opposite because if it comes back normal, you just relieved a lot of anxiety, whereas if it came back abnormal, it’s sort of where they were already, I would say. And so I think that there’s…you know, the circumstances definitely dictate, but it’s not a test I agree that should automatically be done in every person like, “Hey, why not get results tomorrow?” Well, there could be a potential downside. So that’s the karyotype. So let’s go to the next level, which I would say is probably the microarray. What exactly is a microarray analysis?
Dr. Goldwaser: All right. So microarray analysis is a test that’s a zoomed-in look at each chromosome. So if we set the karyotype to the bird’s eye view and you wanna see that you have all the volumes or all the chromosomes, microarray looks at a much higher magnification at pre-selected areas on every single chromosome. So multiple locations on each chromosome where we’re gonna try and look to see if there is a smaller piece of DNA that’s either just missing or doubled. So we call them either deletions or duplications. And this is not just one base pair deletion or duplication, a base pair is the smallest building block of DNA. We’re actually looking for sections of DNA. They’re either missing or doubled. And so the test is designed for prenatal testing in predetermined locations. And the locations that we look at are locations on each chromosome that actually tend to be a little bit more prone to these deletions and duplications and can therefore lead to different genetic syndromes in humans.
And these microdeletions or duplications are also referred to as copy number variants. So it’s a copy number variant, meaning a copy of this section of DNA is found not twice but three times, or it’s found not twice but just once. And these copy number variants can happen to patients of any age. So, young, old, and from all ethnic backgrounds, and from all populations. And they can lead to genetic syndromes even in low-risk patients. We tend to find copy number variants that are clinically significant in 1% to 2% of all pregnancies if we do amniocentesis or CVS.
Dr. Fox: Yeah. I think that’s a really important point, number one, then sort of the level that we’re looking in my encyclopedia analysis. I tell people it’s either like flipping through the pages and making sure there isn’t a page that’s missing or extra in specific areas. Like, we know, I mean, there’s 100 places where the printers usually screw up. So there’s, “Let’s check World War II to make sure there isn’t an extra missing page. Let’s look up, you know, Franz Kafka to make sure there isn’t an extra missing page. Let’s look up soccer to make sure there is an extra missing page.” How I pick those three, I have no idea, but whatever. So that’s, sort of, the level of analysis you see. You tell them, say, “All right, listen, we know that in this printing press, there’s about 100 spots amongst the encyclopedias where they frequently have an extra or a missing page, go look for those.”
And the interesting thing is, like you said, these conditions have nothing to do with someone’s age, with someone’s history, with someone’s family history. These are new random problems, which is sort of why, as we said in an earlier podcast, every person should consider having an invasive test, even if all their testing is normal, if they wanna make sure that they’re not the 1% to 2% of people with a child with one of these conditions because they would never know otherwise until the baby’s born essentially most of the time.
And so it’s not meant to freak people out, 1% to 2% is a low chance, but it’s not zero. And so when people go through their screening or if they’re doing a CVS or amnio and getting a karyotype and finding out everything looks normal, that’s really good for what we’re testing, but it will not tell you about this 1% to 2%. And the only way to know in current technology is with an invasive test like an amnio or a CVS and having the lab look for those. There are some screening tests for these, but as we discussed, they’re not perfect, they’re not great, this is really the only way to know for sure.
Dr. Goldwaser: Yeah. And I think it’s important if someone wants to conceptualize it. When you look under the microscope and you’re doing a karyotype, you see these big spaghetti or this, like, piece that’s a long piece of DNA, you can’t see with that level of magnification, you won’t be able to see these types of deletions or duplications. And so you need to check another box and have another lab technology used in order to find these deletions and duplications.
Dr. Fox: Right. What would be the downside of checking for this? Let’s say someone’s already doing an amnio or a CVS, what would be the reason someone would choose not to have the lab look for microdeletions?
Dr. Goldwaser: Two reasons come to mind. So, the first reason is let’s say someone does a screening test for aneuploidy and the screening test said, “High risk for trisomy 21.” And the patient just, you know, wants to know, “Does the baby have trisomy 21, Down syndrome?” They may wanna just check the chromosomes and leave it at that for that point in time. And doing additional testing may just feel excessive at that time. And then for patients who are doing it, you know, the well worried, just wanting to check what they can check, they may decide not to do a microarray because when you do a microarray you could get a result that’s considered a result of uncertain clinical significance. And so when you do any type of genetic testing, aside from a karyotype, you can get one of several types of results.
They may find that there is some kind of genetic change that is called pathogenic. So, either there’s a deletion or there’s a mutation and we know it’s gonna cause a problem or it’s gonna cause a certain type of disease or manifestation. So that’s called pathogenic. You can also get a result where they say, “Well, this is different. This is not the standard finding in, you know, a big population of healthy humans, but we’ve seen it enough and we know that it is actually benign.” So there’s a finding that could be a variant that’s benign. But then you could find a variant where we don’t know if it’s gonna be disease-causing or if it’s gonna be harmless. And it lives in a category called a variant of uncertain significance or VUS for short. And that’s hard, when you’re pregnant, to learn that the fetus has a variant of uncertain significance because essentially what we’re gonna tell the patient or the expecting mom and father is, “We don’t know what this means, but just hang tight. As the years go by, more information will come out. And we are expecting that this variant will eventually get recategorized.”
And in truth, what we’ve seen is that most variants of uncertain significance, if you wait a few years, they do get downgraded to being benign. About 90% of the time, they do get downgraded to being benign. But it’s really hard when you have a fetus, ongoing pregnancy and now you’re just sitting there worrying, waiting for the next shoe to drop, to say, “Well, what’s gonna happen? Is this going to be a problem when I’m raising my child? I’m always looking for the problems and I won’t be able to just see them as a healthy child and treat them the way I treated my other children.”
So depending on, you know, the way the information is delivered and also depending on the patient’s personality or the way that they deal with uncertainty, it may just be the wrong way to go for that patient. So, we try to give the patients the opportunity to consider that. So, you say, like, “How would you feel if you got a variant of uncertain significance? We’ll try to reassure you when we get that kind of a result. And we’ll, depending on the exact finding, give you an assessment on, you know, what we’re thinking.” But some patients say, “You know what, uncertainty is really not good for me. I’m not gonna do this test.”
Dr. Fox: Yeah. Yeah. And it also depends on which uncertainty is worse for you. Is it having no information, meaning not doing a microarray at all and saying, “All right, I have uncertainty that there’s a 1%, 1.5% chance my baby has something,” right?
Dr. Goldwaser: Right.
Dr. Fox: Or the uncertainty of, “We found something and have no idea what it means.” And let’s say maybe statistically it’s 90-10, but who knows, right? It could be anything. So, what is the likelihood if someone does an amnio or a CVS of getting one of these VUSes, a variance of uncertain significance? Meaning, what is the chance that they’ll actually be in that situation of not knowing what this variant means?
Dr. Goldwaser: Okay. The chances of finding a variant of uncertain significance on a prenatal microarray depending on which lab you are using, it would be around 1%.
Dr. Fox: Yeah. It’s pretty much in the same order of magnitude of finding a real one, meaning finding a significance that we know is a problem. And so it’s sort of, you know, it’s not exactly the same, give or take, but, sort of, it’s similar. The chance you’ll find something that’s clinically meaningful and bad versus a chance you’ll find something that’s clinically insignificant or…sorry, uncertain significance. And that’s hard. It’s really, it’s a tough decision. And like you said, it should be a decision that’s made with that understanding, that on the one hand, you may wanna find out everything you can, but another hand, you may end up finding out something you don’t wanna know potentially. Or maybe someone would wanna know it. You know, say, “Listen, I can deal with that uncertainty. And it’s just something I’ll be able to follow up on, you know, as my child grows up to make sure it was downgraded to something. Or I’ll enter my child in one of the follow-up studies so that they can learn about this variant if it is something that is significant.” Again, different people feel differently about this, but it’s definitely a conversation.
Dr. Goldwaser: Yeah. And I tell patients, I really don’t see it for most people as a risk per se. And I’ll say, “You know what, we’re not gonna leave you alone. If we have that result, we’ll help you through it. We’ll get you as much information as we can. You know, we’ll work through it with you.” And the potential benefit is still there. You’re still learning a lot of information that you otherwise would not have known.
Dr. Fox: Right. I mean, you know, the baby will have that variant whether you know about it or not. And so, you know, the other way to look at it is, “Well, I think I’d rather know and just, sort of, see how it plays out, because if it ends up being an issue, I’d like to know, and if it ends up not being an issue, I’ll be happy to know that.” And I think, obviously, over time, as we learn more about all of these variants, that likelihood of having a variant of uncertain significance should only go down, right, for microdeletions, as we learn more over the years. But since this is relatively new, there’s gonna be some that we just don’t know about because there haven’t been enough babies born with it to figure out is it an issue, and what’s the likelihood of an issue, and so forth?
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