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Speaker 2Hello everyone. This is Dr. Carrie [inaudible] with another episode of fertility docs, uncensored
Speaker 3Me laugh . Carry when you do.
Speaker 2I am joined here by my lovely, delightful, and beautifully attired , um, colleague Dr. Abby , Evelyn from Nashville fertility center, Abby , please tell the folks at home what you're wearing.
Speaker 3Well, I'm wearing , um, Joanne fabric t-shirt with my new cricket design. Uh , we don't want to tell our producer Brandy, but , uh, pulled the graphic design off our website, our fertility docs , um, uncensored kind of logo with a woman and her lips and all that. And I pulled it off and I was able to use my cricket to actually make it an iron on transfers . So I now had a yellow t-shirt with our logo on it. So I proudly display that, probably display that today at the beginning of our broadcast
Speaker 2There you have it folks. She's beautiful. She's beautifully attired. She's smart. She's talented. She has it all. We
Speaker 3Also have an eco up. We also
Speaker 2Have the lovely end in chanting, fiery red head of Dr . Benson of the tech center here, gracing us with our presence. How are you, Susan? I am so good
Speaker 4Today. Any day that I get to sit here and chit chat with y'all it just brightens my day. It really does
Speaker 2Make for a good, so sweet. And
Speaker 4It does because I I'm usually not smiling this much when we, when we're at the very beginning about to roll over.
Speaker 3Usually, you know, if you guys are like, I am, I hardly ever see my partners in practice. We're so busy seeing our own patients that we don't get to talk to each other. So this is actually kind of like almost like, kind of being on a little snippet of a girl's trip, kinda, you know, it's kind of fun. It is.
Speaker 2It is. We just
Speaker 3Need a little wine , maybe,
Speaker 2Hey, we could do a, the drunk history we could do drunk reproductive endocrinology,
Speaker 4Drunk history.
Speaker 2There's um, I don't actually know what either. I don't know if it's a TV show or a YouTube show or something, but I've heard of it before. Therefore it must exist. Right, right, right, right. Yeah.
Speaker 4And, and the premise of it ,
Speaker 2Um, it's historians getting intoxicated and going through history and telling the , uh,
Speaker 3Where do you come up with this stuff? I've never heard
Speaker 2Of this before. I didn't, if I came up with that, I'm sure I would be a gazillionaire by now because I would have a hot TV show talking about the war of 18, 12.
Speaker 3Our patients may not want to come see us if they think we're drinking after hours, you know, intoxicated. So that may not be good for business care. Our
Speaker 2Patients may want to come see us even more if they were drinking after
Speaker 3Hours. Okay. Yeah.
Speaker 2Ours. We are all stone cold, sober, calculating machines during this, right.
Speaker 4Um , or a kind of play hard.
Speaker 2Yes. Well, I don't know, maybe work hard and sleep art
Speaker 3And we are broadcasting after hours now. So we really should have some wine . I mean, it's, you know, eight o'clock right now on the central time here. So, you know, we really should have some won .
Speaker 2I mean , Abby , your family is actually the one that's doing all the risky activities
Speaker 3This week . Oh my gosh. I tell you, I am not much of a risk taker , although I will say, and I didn't tell you guys this earlier, but earlier this summer , uh , went to camp with my daughter as one of the leaders. And so actually repelled down a five foot or five story tower. I did do that
Speaker 4Five stories. I was , I was
Speaker 3Devastated . I was told it was five feet, but it was really no , it was five stories, 60 feet actually. And so that really terrified me. And so I really was so proud of myself. Cause I repelled down this, you know, like tower that you'd see like somebody from the military, you know, going down. So I felt really proud of myself until about, I dunno, a few weeks ago, my husband and my son, who's now 18. We're talking about going skydiving. And they've talked about that periodically. And so I've always told them , I said, you know, just don't let me know because I'll worry about you. And I just don't want to know. And so about four days ago, three days ago, I got a phone call as I was wrapping things up at work at about six 30. And my husband said, well, we survived. Anyway. They ended up going skydiving. They jumped out of an airplane at 14,000 feet and I love it. It makes my heart stop. Just looking at the video of it. I cannot imagine actually doing that.
Speaker 2The airplane wasn't on fire.
Speaker 3No. And there, there were a lot of people in the airplane too , you know? I mean, not, you know, socially distance I should say, but I mean, there's like 10 or 15 other people that were doing it. I'm like who in the world would did that?
Speaker 4The other night? My husband, I and our oldest son were watching air force one. And I hadn't seen air force one in like, I don't know, 15, 20 years or something. Funny thing is it's rated R and it really shouldn't be rated R because there's a PG 13 things that are worse than air force one. Oh my goodness. It was, it was funny. We always use common sense media, whatever. We're trying to watch. Something old that we think is fine because you filter out stuff and it's like, it doesn't quite come across that way. And when I was that age, so I , and as a parent, you're like, oh crap, We're watching air force one Christmas
Speaker 3Vacation would be a great example of that.
Speaker 4And so there's, there's the scene where like, you know, they're jumping out of air force one with parachutes and stuff like this. And I , I, I turned to my son and I was like, you know, I, I never, never really desire to jump out of an airplane with a parachute, but I even more don't want to be in a situation where jumping out of an airplane in a parachute is the best of the two options.
Speaker 3I think cat would be like a cat climbing up a curtain. If I, if I was about to tend them jump with somebody, I think that'd be like trying to cling onto the plane. And
Speaker 4I don't think I could go up in a plane and jump out. Now if there was like an emergency and it was, it was literally like jump out of and
Speaker 3On maybe
Speaker 4Like, I think in an emergency, I could do it, but like, I don't think I could do it as like, Hey, it's on my bucket list. I need to do it type thing.
Speaker 3It is not on my bucket list at all that you carry . Could you jump out of a plane?
Speaker 2No. Y Y no.
Speaker 4I've never been parasailing. Have any of y'all been parasailing?
Speaker 2No , but that's not fun .
Speaker 4Well, one of my best friends went parasailing and after they finished, they were like, yeah, we should have like, maybe thought about that one a little bit more too . Like, like, it looks like one of those really fun things, theoretically not, you know, you're gliding over water, but you're going fast enough and high enough that, you know, and I tell you , when that happened,
Speaker 3We don't appear shooting when they were shooting down. I said, did it feel like you're going really fast? And they're like, oh yeah. And apparently they were going around, like around 130 miles an hour free falling basically until they opened the shoes . And then when the shoot opened, they shot way up. I mean, it like was like a big shot shoot up. And then from that point on, I think it was kind of a slow descend down that , you know, if you're free falling 130 miles an hour, I'm , that's just not. So that would terrify me.
Speaker 2I have a practical question and I don't necessarily need an answer to, this is Abby, this is your husband and your son, but so you're parachuting and you've got all of the straps and harnesses on and all that stuff. And typically they've got the straps that are going to go around your legs kind of under in between your legs. So if you're going 130 miles an hour, and then that parachute goes out and you stop and you suddenly go 10 miles an hour, that's gonna pinch some important
Speaker 3That , well , hate to reveal too much about my husband, but that was exactly what the worst part of it was that he said that was the absolute worst part of the whole parachuting experience for him. Otherwise he had a great time and probably is going to do it again. But yeah, that was uncomfortable.
Speaker 2Okay. So on that note, as we're talking about ways to damage one's own genetic material , um , let's talk about genetic testing, that's available and fertility treatment .
Speaker 3That was a good lead in. I really liked that also
Speaker 4Real quick though.
Speaker 2Yes, yes. Oh, Susan, you always keep us honest on that. He keeps us
Speaker 3Straight on that. Yeah.
Speaker 2Yes. Okay. Go ahead and read the question off. So currently the question is, Susan,
Speaker 4The question is in light of everything that's happening with COVID-19, are there any guidelines or ideas of what's a good idea. What's good to do, and what's not good to do.
Speaker 2Don't get it.
Speaker 3Yeah, don't get it. Yeah. And the tricky thing is, I mean, you know, I don't tell my patients, there's no one that has gotten pregnant and carried a baby for nine months that had COVID 19 is started off with, cause it hadn't been around that long. And so the problem is we don't really know how it affects a pregnancy. And generally if you get infected with something in the first trimester, that's the , the most critical most problems, the most damage. And so I think right now, nobody really knows for sure. We don't have any evidence that it's Serrata genic, but we don't really know that. Um, I think the most recent thing that's really come out, which kind of stands to reason that, you know, pregnant women don't have a lot of lung capacity, particularly when they're in the third trimester. And so just like the regular flu, if a pregnant woman gets it, she tends to have a lot more problems because she just can't take deep breaths . She just didn't have good lung capacity. And we've really kind of seen that, I think with some people in the United States and also with some of the patients in Wu Han that got it , um, you know, several months ago in the third trimester.
Speaker 4But I think it's also important to, to realize that nowhere because most of our listeners are people who are probably struggling with infertility that nowhere on the globe have they advised people not to get pregnant. So, you know, I know when, you know, especially the United States kind of shut down for four to six weeks early on in the Kevin 19, you know, a lot of people had to get their fertility treatments put on hold because, you know, facilities weren't allowed to be opened and different things like that. And you know, there, there hasn't been a call for people to be , um, avoiding pregnancy, like what we saw a few years back when Zika virus was , um, kind of on the rampage. And so, you know, it it's , it's scary. I mean, there's, there's everything about COVID-19 is scary to me. Um, most importantly, what we don't know as you were kind of alluding to. Um, but what we do know is, you know , uh, it's, it's,
Speaker 3There's no rhyme or reason who it's going to affect that
Speaker 2I'm pretty much telling everybody get their flu vaccine, you know, avoid, avoid any of the respiratory, anything because all of the respiratory diseases, like you said, hit pregnant women more, more than their non-pregnant counterparts. And , and I've been telling all my pregnant ladies look your , even when they lift the quarantine , uh , stipulations, you guys are the last to come out of quarantine, you know, don't go visiting people be really cautious, be very, very judicious about where you go and what you do, because you don't really get second chances and, you know, go to work, go to the grocery store, do what you need to do, but be very, very cautious.
Speaker 3Yeah. Yeah. Well then I think at this point too , one of the things that is somewhat reassuring is we don't think there's great evidence support the fact that the, you know, there's any transmission between the mom and the baby through the placenta right now. We think that's probably okay. But I'm sure as the months go on, we'll find out more and more information about that. Both from our country and other countries as well. Yeah, exactly. Well, now let's talk about genetics.
Speaker 2Okay. So this is at least in part, just a little bit of a tease because you know how we tease , um, for some of our co our episodes coming up where, or working with some really talented art , just disgustingly smart , um, scientists who , who work with our embryos, who work with the genetic testing component of it. And so starting to delve into that, and the first one had to go through what type of genetic testing are we able to do and get a little bit more familiar with those terms and what that is. So
Speaker 3The other thing is they speak a completely different language than we do. You know , we speak, we do speak medical kind of, but they speak a different level of medical than we do. So we kind of joke that we need to kind of learn some basic science-y medical, right ? Yeah. We talk people medical, we're like slang medicals. They take their bikes, but strict or medical. So we're going to try and break down some of the terms. Um, but , and we throw a lot of terms around when , when patients come to see us and one of the terms I'll just lead right into this is PGT or pre-implantation genetic testing. And so essentially what
Speaker 2We can we back up for just a minute and do a quick review of high school biology. Okay. Yeah, let's do that. So Abby, what's a chromosome, a chromosome.
Speaker 3If you remember back to high school biology, that X shaped structure, it looks like a big X, that's a chromosome, and we all have 23 pairs of those chromosomes. The only thing that differs between men and women, women have two X chromosomes and men have an X and a Y okay .
Speaker 2Susan, what's a gene.
Speaker 4So the genes are the things that are in the chromosomes, that kind of program . So the way that I always explain it to patients is when we are testing chromosomes versus genes. And we're going to be talking a lot more about this in a few minutes, when I'm asking about chromosomes, I have two hands when I'm looking at genes, I have 10 fingers. So the fingers are parts of the hands, but they're there they're component of it.
Speaker 2Okay. And when you're looking at a baby, how much of their genetic material is coming from each parent half and half. Excellent. And what is DNA? DNA is the
Speaker 3Block of the chromosome. It , it basically, if you take a bunch of DNA and wind it up and keep wandering and wind, and eventually it becomes a ,
Speaker 2Okay. And then before we get into the PGT, want to do a quick talk about what is pan-ethnic carrier screening, because that is something that we do on the parents before we get to the embryo stage. And so some of what we do there leads into what we do later and equally as importantly, some of what we see there has absolutely nothing to do with what we can do later.
Speaker 4So what Carrie was talking about, the pan ethnic carrier screening. So the carrier word means you're a carrier of a gene. Okay. So what we're really looking at when we're looking at genes, we have
Speaker 3A lot of genes, right ? We carry a lot of genes ,
Speaker 4Right? We have a lot of genes. So on these, on these screening panels, they screen for generally , um, they can screen for just a few genes or they can screen for upwards of almost 300 genes. Okay. And most of these genes that they are taking a look at are what we call recessive genes. When we look at genes, we have dominant genes and we have recessive genes, dominant genes. You only need one copy for you to end up with that particular disease. And those are generally not the things that we're testing for on these, on these tests. What we're looking for is recessive conditions, recessive genes, where you actually have to inherit one recessive copy or a bad copy for mom and a recessive copy from dad, put those two together and you can end up with a condition. So these are, these are medical conditions that can hide in somebody's family tree for generations until the right person meets the right person. And most of these genes that we're testing for are for things that are causing severe disability of some sort, especially in babies, children, that, that type of thing.
Speaker 3So Sue , a lot of times when I talk to the patients about doing and not call it expanded carrier screening, another term for it. Um, when I talk to patients about doing that, you know, the response I get probably maybe 70% of the time is, oh, we don't have a family history of that. So how did , how do you respond to that question?
Speaker 4That's exactly the thing is that until the right person needs the right person, you're not going to have a family history. These things can stay hidden for generation to generation, to generation number one, number two, quite honestly, beyond our parents and maybe our grandparents, most of us have no idea what the medical conditions were of our great-grandparents extended family, et cetera. And also, as I was talking about, like these tend to be really kind of , um, big deal , um, types of diseases. A lot of these things, a hundred years ago, 150 years ago would have resulted in stillbirth or infant mortality, which we would have just been like, oh, they had a baby that died at age two, and nobody would know that it was spinal muscular atrophy or, or, or whatever the condition truly was that led to that child's death. It was, you know, unfortunately, you know, there were lots of things that led to, you know, infant and child mortality, you know, just a hundred years ago.
Speaker 3All right. Well, and I always say too , it's kind of, I think ancestry.com does a great job. So
Speaker 4Go ahead,
Speaker 3Abby . So this is going to say ancestry.com does a great job of essentially showing us that we all have. We really don't know what our family history is much past a generation or two. And so, you know, even if you don't think you carry something, there's just really no way that, you know, and it it's really amazing to me, how many people do carry an admirable trait? I know I carry two abnormal traits. I actually found out that I have a recessive condition. Fortunately, it hasn't impacted me and I probably won't, but it was , it's just really amazing to me that we all carry some crazy genes that we didn't know we carried. And so it's only through testing that we can figure it out . And, you know, a lot of times when we talk about doing genetic testing on embryos, we have to really know what we need to test before we can actually do it. So for example, if you carry a trait like cystic fibrosis, we have to really know that we're looking for that. We can't just, we can't just screen all the embryos for that. We have to really know that we're looking for that. Um, so I think it's a great test and I think it's , it's really helpful for a lot of our patients.
Speaker 4Another thing for people to keep in mind is just because you do the testing, we're going to be talking about things like PG PGT. Preimplantation genetic testing. When we're talking about carrier screening though, just because you do the carrier screening doesn't mean you have to do IVF. If find out that you're both carriers it's to give you information, to give you power and the voice. So if you know, there's a 25% chance that you may have a child with cystic fibrosis or spinal muscular atrophy or Smith's Lumley opiates , or what , whatever disease it is, you may need to make choices for you, you, your family, your child, that you would not otherwise know that you need to make. And then you're to have to make them in a hasty way. Like, oh my goodness. You know, everybody's life is amazingly changed when this baby comes into the world. And now not only do I have this big change, but now I have to think about all these other things, whereas, okay. I've had time to prepare that. I know I need to have a special pediatrician. I know I may need to decide on different way. You know, I may have been planning on my child being taken care of by a nanny or being in daycare or whatever. And maybe this health implication may say, we have to do one way or the other, something that I wasn't expecting. So it can give you information , um, to make you prepared as well. So
Speaker 3They say to that sometimes when people have a baby with something like spinal muscular atrophy or something like that, it's really hard to pinpoint what the problem is. And so a lot of times parents will go on a medical Odyssey and it may take them, you know, a visit to six or eight different medical professionals.
Speaker 2So what Abby was saying is she , uh, cut out. Cause I think her microphone decided it was going on vacation, right at this instant, they'll go on a medical Odyssey of going from dock to dock, to dock to try and figure out what's going on because you can have one of these syndromes where, you know, there's something with the gut. There's something with the brain. There's something with the muscle development. There's something with breathing. There's a little bit of something with a little bit of every system, but it's not concrete with everything. And so it takes much, much longer to get the diagnosis. Whereas if you have it ahead of time, then you can go straight to targeting how to make life better and more livable for everybody, not just the kiddo, but also the parents and all the caregivers as well.
Speaker 4Exactly. Exactly.
Speaker 2All right. So let's get into a little bit more of the description of PGT and what that is and what it can do and what it can't do and what the alphabet soup of PGT is. So Susan, what are the different, what are the, what's the basic premise of PGT?
Speaker 4So the basic premise of PGT is that when we're doing IVF or in vitro fertilization, when we have embryos that get to an advanced stage called an expanded blastocyst , um , and that's generally a day five, six or seven embryo, we can tell which part of the embryo is going to become the baby and which part of the embryo is going to become the placenta. And we can take a few of the cells that are going to become the placenta and send those cells to a lab. And then we generally cryopreserve the embryo send those cells to a lab to find out , um, most commonly, whether those embryos are chromosomally normal or not. And that is what we call PGT a a is for aim . Euploidy just a fancy word for abnormal AB number Ella , AB normal number of chromosomes. And so , um, that's what we see most commonly and in, in , um, the IVF field, cause we know that even when people are in their twenties, about half of the embryos they create are chromosomally abnormal as women age and approach their , you know, mid forties, that number can get upwards of 90%.
Speaker 2Okay. So PGT a is really good at checking the total number of chromosomes. It is not good at checking a specific gene like cystic fibrosis or spinal muscular atrophy, or one of those really specific, tiny little fingers compared to checking for the whole hand.
Speaker 4Exactly, exactly. And that is PGT M where we're looking at the genes .
Speaker 2Okay. So tell us about PGT M
Speaker 4So PGT M it does take us a little bit more prep work when we know that we're looking for this. So first of all, you know, sometimes people are worried about us , um, like trying to create like this genetically perfect baby. Like it's just, it's, it's just not feasibly possible. And we don't do something like that. We only go looking for these genes when we've done some carrier screening, like we've talked about before or in a situation where perhaps a couple have already had a child that's affected and that's how they found out they were carriers. Um, and so what we can do is when we know that each parent has a carrier , um, there can get blood or saliva samples from each of the parents, and generally they want to get , um, blood and saliva from , um, siblings or parents of the intended parents. And essentially the lab , um, creates what's called a probe. And there , this probe, when we send off those little cells are used to help identify if that genetic mutation is present in the embryos. And if we have no copies of the recessive gene, if we have one copy or if we have to , and generally speaking , um, you know, as long as we have one or none, then those are going to give us embryos that are going to , um, give us a good chance of having a baby that is not affected by that disease .
Speaker 2Okay. And then the last type of PGT that we're looking at is PGT Sr, which is structural rearrangements. And this, I actually think is really cool because when you're looking at a karyotype and a karyotype is the, the arrangement of all the chromosomes, if you were to, you know, literally take a picture of them in all of their disorganized glory and then organize them and pair them up and label them from biggest down to little less down to the sex chromosomes. And what happens with the structural rearrangements is that two of them stick together where they really shouldn't stick together. And so let's say , um, one of the more common ones, like a Robertsonian translocation, that's where chromosome number 14 and chromosome number 21, hang out together, and they're stuck together and he did a little dance, we did a little dance. And so sometimes you get lucky and it separates out so that even though they're stuck together, you still end up with the right amount of everything. But more often what you see is that there is too much or too little genetic material. And that is particularly scary in that particular translocation because chromosome 21, when you have too much of it, it's associated with down syndrome. And so when we are looking at that type of rearrangement, you're looking to see, okay, do you have too much or too little of those specific chromosomes that are the ones in question
Speaker 4Most commonly, we find this when we're looking at couples who have recurrent pregnancy loss, those are, those are the ones that are most likely to be found in that type of situation.
Speaker 2All right. So let's try this again. Let's see if Abby's microphone wants to play with us anymore.
Speaker 5I just decided I wanted to go get some coffee and hang out for a while . Sorry to leave you guys to talk about genetics. You know , really, I just didn't know what you were talking about. So I thought I'd just take off. So hopefully my microphone will cooperate with me. It just kind of did its own thing there for a minute. So I missed some of the conversations . So you guys will have to fill me in.
Speaker 2So really it's actually perfect timing because you came back and just enough time to explain the very hardest thing to explain without pictures. So can you tell us about mosaicism in the next, like three minutes or so?
Speaker 5Sure. Yeah, no problem. Well, you know, I'm not a very smart person, but the way I sort of think
Speaker 2About it is, you know, when we do genetic tests .
Speaker 4Oh, I think Abby's microphone is
Speaker 2No, she muted it , it muted it herself . I didn't meet it. I think the battery you were doing so well. Yeah ,
Speaker 4No hers keeps on meeting. So Carrie , you wouldn't do mosaicism and
Speaker 2Oh man. Okay. So mosaicism Abby , your microphone, I mail you a new one. Mosaicism is where you have two different cell lines present. And so it means that some of the cells that are there are totally normal or in some of the cells there , maybe , you know, for sake of example, have down syndrome in there. Um, and that by itself is not necessarily a problem. It sounds weird to say that, but it really depends on what percent is abnormal and where. And so if you have just a , um, Abby is in the background, threatening her microphone, and it's really pretty amazing to watch. So if in the background of the cell, you have a little bit of abnormal, that's totally fine. However, if you have 50%, 70%, 90% of a different cell line, that is not normal, that is a bigger problem. And that's what mosaicism is. And that's what we have a harder time interpreting because the lower level mosaics we think are okay, because we think the embryo can prepare itself and, and the ultimate baby will be fine. The higher levels. We're pretty sure. Okay. Those aren't okay because they're more abnormal than normal. It's those middle levels that we don't quite know what to do with
Speaker 4Somebody has embryos that are mosaic, which , um, you know, now that all of our reporting does report mosaics , uh , our patients who are using PGD or , you know, there's a decent chance that they might see that on a report, there are different , um, some chromosomes are more okay to transfer as mosaics than other chromosomes. So, you know, that's something important for you to discuss with your doctor is if you do have mosaics, is it a high crime ? Is it a high mosaic? Has a dilemma is a, but almost more importantly is which chromosome is it involving? Um, that almost determines , um, your path on whether or not it's a wise idea to try to transfer the mosaic , um, or not, you know, it's going to help lead you down that path. I can tell you that I have transferred some mosaics. I know not a lot of people have transferred mosaics, but I've had some people transfer mosaics and the children have ended up being happy, healthy little boys and girls out there. So , um, there, there is hope for some of those mosaics out there,
Speaker 2The knowingly versus not knowingly transferred them. We've all transferred. We have known we have transferred them. And that that's where the difference is . So, all right, well, it has been a pleasure hanging out with you ladies, as it always is. And talking about the things that we talk about all day, but , um, it's much more fun just chatting about it with , um, two friends here and having girls night in. Um, so to our audience, thank you for listening and be sure to tune in next week for more and be sure to subscribe, leave a message in iTunes, leave reviews. And we would love to hear from you
Speaker 4Visit fertility, send sensor.com to schedule an appointment with any of this or submit questions that you have about your infertility situation. We promise to answer your questions anonymously on our assets , the dock segment, and please don't hold back. We , we really want to be there to help answer your questions. We'll
Speaker 2See . Bye everybody. Have a wonderful week.
Speaker 6[inaudible] .