SPEAKER_01 0:01

Welcome back to the Fertility Suite Podcast Series 3, where we're bringing the fertility experts to you so you can make the most informed, educated choices about your fertility. Hello everybody, and welcome back to another episode of the Fertility Suite Podcast. And joining us today, we have Emma Whitney, and Emma is the Director of Embryology and Genetics at the Evewell, which is a fertility clinic based in London. So, yeah, Emma, I'm going to hand over to you to introduce yourself, but today we're going to be talking a bit about genetics and karyotyping. So this episode is kind of aimed at anyone who may be thinking about karaotyping testing, or maybe you've had pregnancy loss and you're not sure what that means, and you've had some testing and you want a little bit more information. Emma is our person. So yeah, hi Emma.

SPEAKER_00 0:46

Thank you. Hi, Rachel. Thanks for having me. Yeah, so my name's Emma. I am an embryologist clinically practicing for nearly 24 years, which, for those of you who have maths in your head, you now know how old I am. So my background is in embryology, and then I specialise in genetics. So most of my really bespoke work is in PGTM, which is when we look for genetic disease. So I hope that I can help unpick some of this.

SPEAKER_01 1:14

Yeah, I'm sure you can, Emma. Thank you for telling us a little bit about you. So, first of all, let's talk about some testing that patients might have heard of, and that is something called cameotyping. Now, there's different types of caveotyping. So can you just start by explaining a little bit about what actually caveotyping is and the difference between those different types? Because it's a minefield, right?

SPEAKER_00 1:35

Yeah, so the the most in its most basic form, karyotyping is a chromosome copy number count of a human being. So I think people understand that PGTA, which we'll come on to in a minute, is a chromosome copy number for embryos. Caryotyping is in essence is what we're doing to detect certain aspects of the karyotype, which is the chromosome copy number as you in a human. So that's normally a blood test. There tends to be basic carrier types which are just looking for. So we also do caryotyping on fetal tissue as well, or in what we call CVSs or amniocentesis. That is a carrier type. So when we're trying to diagnose maybe problems in pregnancy, or if we're looking to confirm that the pregnancy is normal, we no longer use PGTA at that point. We we use carrier typing. And the differences that they have, and I'm not a specialist in how they do this in the lab, but it is some high resolution because they're looking for what we call micro-deletions. So patients may understand that they may have understood a pregnancy or a friend's pregnancy or their own pregnancy that has been lost to what we'll go on to in a minute, which is trisomy, which is when we have a whole extra copy of chromosomes. Or you can actually have problems in pregnancies from microdeletions, and they also get picked up on karyotyping. So that is a it's a blood test in essence, and it comes back from whichever individual or fetus that we're taking it from with a result for that for that test. Tell us whether the chromosome copy number is normal or abnormal.

SPEAKER_01 3:09

So that would, like you said, that would come back from the bloods from either the parents, so parental karyotyping or from any fetal tissue from the fetus. Okay, so it's looking for the same thing, just in at different points.

unknown 3:21

Okay.

SPEAKER_00 3:22

Yeah, absolutely. And it depends on what we're looking for to how high resolution they go. There's different ways that they can do it when they're trying to look for really small deletions when it's not a whole chromosome that's involved. We can look for tiny deletions that can cause genetic disease. They will then do quite high-resolution testing, especially on fetal tissue or pregnancy bloods or amniocentesis, for example, that they take. So that's what that's what a carrier type is. And in essence, what the result will show is if you are looking in a parent, for example, so these are I'm trying to remove emotion from this and be really scientific because I'm I I completely appreciate a lot of this is very emotive. But if we can put that in a box for a second, if we're looking at a parent that sat in front of you as a functioning human, then it is unlikely that there's going to be an additional whole chromosome involved in that parent unless it is in the sex chromosomes. So you would generally get a result. What you're looking for in parents is either a sex chromosome disorder. And when we talk about sex chromosomes disorders, we're talking about something, for example, called Kleinfelter syndrome. So we would let's play out scenarios. So we would definitely do a carrier type in a man who has no sperm in the ejaculate, for example. And if we were looking for reasons why there were no sperm in the ejaculate, one of the tests we do is a carrier type because there is a condition that is completely compatible with life and normal human intelligence and everything without too much disability. And it is actually what we call 47 XXY, which means that the male partner in that relationship actually has a whole extra chromosome of X, which means that actually they this goes undetected for like 30 years until they try and have children or try and reproductively go down that route. And we know that that's a condition called Kleinfelter syndrome. So that would be something that a carrier type would pick up. We also look for this in parents where there is a recurrent miscarriage. And the reason we do that is we're looking for something that we call translocations. A translocation is when you have all the right bits of the genetic material. You are a normal functioning walking-talking human, you are genetically normal, but the way your chromosomes are lined up are incorrect. So they tend to make more embryos or pregnancies with an abnormal chromosome copy number. So we also look for carrier types in people that are suffering with recurrent miscarriage as well.

SPEAKER_01 5:47

So that's why I think it's really difficult from someone who might have suffered with recurrent loss to know whether to do this test right, because it's not necessarily something that you're going to be symptomatic of. You may have a balanced translocation and you wouldn't know anything about it. Yeah.

SPEAKER_00 6:01

So and it's really frustrating because karyotyping, it's a bit like what we're doing, what we're finding with fertility action and the whole NHS funding. The NHS funding provisions are changing all over the world, all over the country throughout the UK, apart from in Scotland, it would seem, to come down to like one cycle of funded NHS treatment. And actually, it's really similar what we're seeing in how we are, what I'm seeing definitely with patients coming to me having had. So after three miscarriages, the NHS has a protocol in place where you are investigated for a certain element. And until very recently, carrier type was very much part of that across all NHS. And I'm now seeing pockets where that is being removed. Now, to put it into context, one in 300 people will carry some form of balanced translocation. It doesn't always result in miscarriage, it can live in families for years. It's normally inherited, it normally is inherited from one of your parents. You may have siblings that have got it. And for some people, it doesn't cause this recurrent miscarriage issue. But for some people it does. So I find it, I find it interesting that they've they've done there's definitely a disparity across CNHS now and recurrent miscarriage provisions because it's definitely not as common that I'm seeing people having had done it, and then we're picking it up in the private sector when people are coming for fertility treatment, then it's not been done. So it is definitely something that we would recommend is done after your. Does this evidence show that any particular heritage is more likely to have or is it not as far as I know, you definitely see it, it definitely comes through more in consanguous relationships. We know that that can lead into it why it forms. But so I suppose if you look back in people's histories and there's consanguine, well, consanguous means a a relation, so a first cousin relation, for example. But no, not as far as I know, it doesn't seem and I might be wrong there, but I haven't I haven't read anything that suggests it's more linked to certain ethnic groups.

SPEAKER_01 9:00

So it really is a case of just running the testing. Sometimes there's no clinical indication apart from potentially recurrent miscarriage that would make you think to run this testing.

SPEAKER_00 9:09

Yeah, it's an expensive test. It takes around four to six weeks. The reason we do it for any of our couples that we see is recurrent miscarriage is the main one. And like I said, if the if the man has azospermia, so no sperm in the ejaculate or very, very, very low sperm counts, then we will start to look at certain elements of the carrier type to see if we're picking up anything there. There are certain microdeletions, coming back to what we talked about earlier on the Y chromosome that can lead into sperm problems. Again, this can be picked up in high resolution. You actually go looking for those sorts of things in a in a test. And that would be in the individual. And there are some functional elements in female infertility that is quite rare. But for example, there is a condition in females called Turner syndrome, which is when we only have 45 chromosomes instead of the normal 46. Now, that is very, very unlikely that that won't show up without what we call the phenotype of Turner syndrome, which is the expression of the when we we use the word phenotype, it basically means Latin for symptoms. And but there are rare cases where you can have a mosaic turnus, which means some of some of the female cells are turners and some aren't, and that can lead into quite low fertility. So there's not many things in the female that I know of that we would go looking for unless it was that we're trying to detect a translocation and trying to unpick why there's these miscarriages are happening.

SPEAKER_01 10:29

Yeah, okay, thank you. It's good to talk about these things in context because I think anyone listening might go, oh my gosh, and panic and think straight away, you know, I need to get this testing. Like we are talking about certain scenarios generally. So you touched on trisomy. Am I pronouncing that right? How do you say it? It's trisomy, trisomy, and triploidy. So can you just explain a little bit more about what they actually mean? Because this is something that patients are coming to us in the clinic with their fetal karyotyping results.

SPEAKER_00 10:58

Yeah, okay. So you see the same in fetal karyotyping, as interesting as you see in PGTA carrying when we're trying to assess the embryos. So the actual thing is when we talk about something being trisomy, so to play out an example that people will hopefully understand, Dow Down syndrome is an example of a trisomy of chromosome 21. So we're all we all have 46 chromosomes. 23 come from our mum, 23 come from our dad. They are in 22 pairs, all numbered one to 22, and then we have an XX for a female and an XY for a man. So we all have 23 pairs of chromosomes. In a Downs syndrome individual or a pregnancy loss or a pregnancy that's diagnosed as Downs, what that person individual baby fetus has is an extra copy of a single chromosome at 21. So the karyotype in that case would read 46 XX or XY, whether they were female or male, and then it would say three times 21. So that is what we call a trisomy. Now, that also happens in other situations called Edward syndrome, which is actually when we have three copies of chromosome 18, and we also see it in something called patile syndrome, where we have three copies of 13. Now, those are the sorts of things that you're probably picking up in clinic where patients have had that diagnosed in pregnancies, and it's not because the others don't happen. So if you go back to the embryo basis where I deal quite a lot with, I will see three copies of all sorts of chromosomes, but they are normally incompatible with ongoing pregnancy in life. They don't have a name, and dependent on which chromosome is involved. So, for example, if it's, I don't know, three copies of chromosome five, I don't even see that that often because it's probably so functionally needed for embryos to even grow that they never even get to the blastocyst stage where we're testing them. So you definitely see less trisomes in pregnancies that then end up having testing apart from the ones we know about and we have names for because they actually either don't make you pregnant or they're incompatible even with embryo development. So in a PGTA result, I can actually have trisomies on different chromosomes. So it might have that I've got three copies of five and three copies of eight. What that generally means is the embryo is probably not going to be able to make you pregnant. It certainly hasn't got capacity to an ongoing pregnancy. So it really depends on where you're diagnosing this to what you then see. But a trisomy, the word trisomy means three copies of, and that is a particular chromosome. When we talk about triploidy, that means the entire chromosome complement is triple. So instead of having 46 chromosomes, the embryo or the fetus has 69. Now, interestingly enough, we tend to see these in the lab, and sometimes they are very easy to visually spot because they show up at the fertilization stage as three nucleuses instead of two. So we know very quickly that we're probably dealing with what we call a triploid embryo. What actually happens if you miss those in the lab, and I don't mean miss as in someone's done something wrong, I mean that they don't always tell us in the lab that they're triploid, unless you do PGTA, you can't detect them. They are actually incredibly dangerous and they can cause what's called partial molar pregnancies. So this is when, especially when they are 69, so 69 chromosomes and they're XXX, which means they are female, in very, very rare circumstances, they can actually cause cancerous gestations. So they but thankfully, nature, as as nature can be cruel and kind, is normally very good at quality control. But these can be picked up. I expect you've seen patients at 12 or 14 weeks that have had these picked up, and then they are unfortunately they are incompatible with life, but they they do need quite careful medical intervention. So triploidy is an entire extra chromosome, all of them. You can actually get quadruploidy as well, where you can get four copies. I've only ever come across one or two pregnancies with that, but you definitely see it in embryos.

SPEAKER_01 15:08

So if a patient was in a natural conception pregnancy and they sadly found out at you know that 12-week scan that they had a triploid E, would you then recommend karyotyping in that scenario?

SPEAKER_00 15:20

No, not necessarily. It's probably no, not immediately, no, not unless that there was something more we call it phenotypical, so symptomatic related to the parents that would suggest we do that. Triploid E is normally a random event. And actually, there is only a couple of documented cases of anyone having more than one triploid Event that I know of. It's a bit like being struck by lightning twice. So, no, we see them in the lab, we know how they happen. They either happen for the eggs' failure to go through the fertilization process properly without drawing you a picture and showing you a video. I can't even show you what that looks like, or it's where two sperm get in to the end instead of one. But no, we see it in the lab. It does, we do we do actually see them all the time, but most of the time they're not, they either don't grow in the lab or they don't make pregnancies, or in the natural conception, we think they fail to make pregnancies. But for those that do, the the indication is not that it's coming from the parents, it's an act of fertilization that's gone wrong. And is that the same for trisomy then? No, not no, not always. So if you were to get a patient, so trisomies are normally spontaneous occurrences, they're not normally being led by anyone, but there are certain trisomies. So when you would do a carrier type on a fetus that showed you a particular trisomy, you can have, you don't always have to have a full copy of chromosome 21, for example, you can have a partial copy, and it's sometimes in those carrier types from the fetuses where they show unique what we call breakpoints. So instead of it being a whole gain of a chromosome, you might have a partial gain of this chromosome and a partial gain of another one or a loss or a gain. And it's it's that diagnosis that then leads us into questioning whether it's coming from a translocation that the parents may carry. Most trisomy events in in fetuses that are lost are sporadic. They're not normally causative of, in fact, the pattern is completely different when you're looking for a translocation. In fact, the report will say most of the time, if you are and you have been really unfortunate to lose a pregnancy and then you've had a carrier type on that pregnancy, in those, in the notes of that, in that a lot of them come back saying suggest potential translocation because it's a it just presents a certain way. It's not normally a full trisomy event. That's normally sporadic.

SPEAKER_01 17:41

Yeah, thank you. I think that's you know, like you said, for anyone who's been through loss, it's really traumatic and awful. But I think just that, you know, that is a reassurance for people listening that, you know, if you have had a trisomy pregnancy, it doesn't necessarily mean that it's going to be something that's reoccurring because naturally that's something that comes up with patients that have suffered loss all the time. Of course, it would, you know, you it's one of the first things that goes for you.

SPEAKER_00 18:03

I think I think people are looking to where to place the the take away the risk, they don't want it to happen again, understandably. And there's there's always a look for blame, and I don't mean blame in an awful way, it's like trying to work out why this is happening to anyone. And unfortunately, most of the time, trisomy 21s, 18s, 13s, all of these are normally just either age-related. As we get older as a female, we definitely make more eggs that don't have the right number of chromosomes in them. So that's why we would lead into that age-related trisomy events. But no, normally they're not, they're not coming from anyone, they're normally just sporadic events. And when you, I suppose if you could see the amount of embryos that we see in the lab with trisomy in them, it it becomes clearer that this is just something that actually embryos do, and they do it both in nature and in the lab.

SPEAKER_01 18:56

Yeah, it's all context as well, isn't it? Like you said, when you're looking at a large number of embryos, it all becomes a different, a different story. Yeah, how likely that is. So you touched on PGT testing. So can you tell us a little bit about the difference between what you're doing, what PGT is and what you're doing in the lab, um, and how that might pick up the same or different things to carryotyping. If someone is undergoing IVF, how you kind of differentiate between whether they should have karyotyping or PGT or you know, ED.

SPEAKER_00 19:27

So PGTA testing is for NGS, so it does chromosome copy number. It actually picks up probably the same as a carrier type. If not, it's actually very high resolution from the from the offset. It only goes so when we talk about deletions and duplications, which is bits of chromosomes that are lost in gain, PGTA will only pick up to about eight megabase, whereas a carrier type can pick up smaller than that if it knows it's looking for it. So carrier type is a little bit more sensitive because you have more DNA because you get it from the blood and from an embryo we're only taking a small part. So the PGTA we do does actually, in essence, do a chromosome copy number. It can see duplications, deletions, it can see trisomes, it can see triploidy as a whole. And so when we recommend that patients do that when they're sat in front of us, it's either that they have had a recurrent miscarriage journey and we've got no reason to think that it's coming from either of the parents, but we're trying to, we know that the most common cause of miscarriage is what we call aneuploidy or the incorrect number of chromosomes in an embryo. So we might recommend it there. We definitely start to recommend it in advance, advancing female maternal age. So anything over 37, we start to talk about the benefits of maybe trying to select from a pool of embryos, knowing that only 40-50% of them will be normal in the at that age group. What's really interesting about PGTA is I have actually picked up translocations from embryos in patients where they haven't had a carrier type. So they've actually come to us with infertility issues and they haven't had any pregnancies at all. And for whatever reason, we've done PGTA because maybe they've been a bit older, the female's been a bit older in that age group, and then the embryos come back with an identical pattern, and you can see it. And then so you can then say, What's really interesting is you don't know which side it is, so you end up having to do karyotypes on both. So, in the reverse, sometimes PGTA will pick up the translocation that the parents don't even know they've got. So I've actually had about five of those in the last two years. So I think that if there's anything to be taken away from what you're trying to get across here, Rachel, is that actually PGTA is so clever that it can pick it up in the reverse way. So yeah, I mean, it obviously in a recurrent miscarriage situation, I'd much rather someone had had a carryotype, but sometimes we do pick it up. So, in essence, they're looking at the same things. It's just one's got a much smaller amount of DNA than the other.

SPEAKER_01 21:57

Yeah. And it's all timing, isn't it, as well. You know, if you're about Start an IVF cycle, it makes more sense just to PGTA test embryos rather than pause, run carryotyping, wait, like you said, for the results, and then yeah.

SPEAKER_00 22:11

There's very few carrier typing issues that we won't pick up in PGTA, they'd have to be very, very small. I'm not saying we we we definitely don't pick up tiny, tiny microdeletions of what we call one or two megabase. And to give you an example of a there's a syndrome called De George's syndrome, which is a micro deletion. So and crude chat, they're tiny, tiny, tiny. And I'm talking like they're one or two megabase. If you can imagine a barcode and it's like the tiny line in a barcode. So no, PGTA won't pick up everything, but the big carrier type players that we are looking for, your balanced translocations most of the time we can see in the embryos.

SPEAKER_01 22:49

Yeah, it's amazing now that the availability of these things and sort of how accessible we've made them. I think it's definitely changing the way in terms of patients that are struggling with recurrent miscarriage, or like you said, even those patients that are not falling pregnant and haven't got an answer for it and maybe have had a lot of testing and still not got a clear answer.

SPEAKER_00 23:08

Yeah, I think that goes back to what we were saying earlier that actually some translocations and balanced translocations actually show themselves in recurrent miscarriage. They just tend to cause it a bit more. But there are definitely some translocations that are so incompatible in their unbalanced form that they they don't cause any pregnancies. Um, and I think again it comes back to which chromosomes are involved because some chromosomes are far more key in developmental biology in those early stages than others. We know that chromosome 21 doesn't actually play much of part in blastocyst formation, because if it did, we wouldn't see the amount that we do. And and we definitely see trisomy 21 quite a lot in embryos because it's very compatible with the laboratory side of development.

SPEAKER_01 23:53

So yeah, yeah, it's really interesting. As this, I mean, as whenever I do a podcast with you, I always learn a lot. But yeah, if someone was running caveotyping testing and something came up, like you know, there was something diagnosed in terms of a balanced translocation or genetic condition, what would be the next steps? Because this doesn't mean you can't have a healthy pregnancy, right? Like, what sort of support is there? And how would you direct someone and how would you help them sort of make a plan?

SPEAKER_00 24:20

So if it's a karyotype that's a balanced translocation, that's a big balance, I mean I call them big, I don't mean that that's a that's a bad thing. If you are a if you are an individual with a balanced translocation, there is nothing wrong with you. You have no health problems, you will not develop any health problems. What it means is that when you're making eggs or sperm, depending on which person's got the translocation, is that you are making eggs and sperm with more unbalances because the arrangement is wrong. So it doesn't mean what I will say is to make this very clear, there is nothing wrong with you. You are a healthy person and there's no, there's no implications for you having this balanced translocation. Depending on where the translocation is, what type it is, I would say 95 to 98% of most balanced translocations, they've got two names. One of them is called a Robertsonian translocation, which only involves chromosomes 13, 14, and 21. I'm not going to go into the reasons why, because we haven't got the next three hours or a genetics process to go through, but there is a specific reason for it. And then you get what's called a reciprocal translocation, which tends to be between, it can be between any, any chromosomes. They are normally big enough in the fact that when we talked about our megabases earlier, they're normally big enough that we can detect them on a normal PGTA platform. The way we do that is we do it, it's called PGTSR, which is pre-implantation genetic testing for structural rearrangements. So we term it something so that we're we are putting a patient in, and it's really important that the genomics lab know that they're looking for this. So they they definitely do an extra level of viewing on the PGTA technology to make sure that they know what they're looking for. So we would tell the genomics lab this patient's coming through, we are creating embryos, this person has this balanced translocation. So we do all of that before the patient comes through, and then and then yeah, so the embryos then get tested as they normally would for PGTA, and we would get a result that tells us whether the embryos are, and I think this is a really interesting point to send home to page anyone on who's having PGTA or PGTSR with a translocation, is we at the moment do not have the technology in the PGTA technology, cannot determine between unaffected, which means they don't have any translocation or whether it's balanced. So it will come back as a normal embryo because the chromosome copy number is correct, but we don't know whether they're like mum or dad or whether they just don't have it at all. That I think that technology is coming, but at the moment we cannot distinguish between the two. But what we then get is another result that says unbalanced, so we know that the the differing rearrangement. And you can also still get other aneuploides, like you could get anything else that anyone can get as well. So there are certain translocations or things that come out of a carrier type that can be really small, like what we talked about earlier, like the microdeletions. Now, when those come up, that's when we get into the realms of PGTM, which is the same as when we're testing for things like cystic fibrosis or Huntington's or Fragile X or things like that. So when the translocations are really, really teeny tiny and we know that the NGS platform that we've got to test for them isn't going to pick it up, we can go down what we call the M route, which is when we do genetic disease diagnosis and we can do it that way.

SPEAKER_01 27:40

Okay. Wow. So if someone has this, you know, they've had their embryos, either they've had their embryos tested and you've picked up on a translocation at that point, or they've had carryotyping, would you um send them to speak to someone or what sort of support is out there in this?

SPEAKER_00 27:56

Um anyone that gets diagnosed with a translocation through the NHS should be immediately outsourced to genetic counselling. I find it unfathomable that that's not happening, but it isn't, it isn't routinely because genetic counsellors are that is literally what they're there to do. They're there for you to understand how this is inherited in your family. And also there's some really difficult conversations that if someone gets diagnosed with a with a translocation of a carrier type, I think you need to be really aware that this might not just affect you. If you've got siblings, we need to have that conversation as well because most of the time these are not what we call de novo, which means the first time. They are sometimes the first time in someone, but I think I've only had about three of those in my career. And most of the time they are definitely linked through families and they live in families. So it's not that's the whole point of genetic counselling is to say, right, who else is in your family tree and who else do we need to be having conversations with? Are you comfortable having those conversations? So there's there's there's a lot of nuance there. So yes, I mean, they should definitely be having genetic counsellors if it is something that we pick up. For example, if I pick it up, I can do some of that counselling because I'm quite au fay with it, but I would always outsource this to a proper genetic counsellor for really good support of what this looks like, what this means, and all of that. Because genetic counselors have a magical way of like drawing it out and showing you and making it less scary. Because it's something that people fear, understandably, but it yeah, so they they should definitely be asking. I think if anyone gets diagnosed with anything in even a fetal loss that says might have a translocation, immediately that should have some genetic counselling involved so that you can understand what that means.

SPEAKER_01 29:37

Yeah, absolutely. Because it's I can imagine it's extremely overwhelming, but also it doesn't mean, and I think this would be the first place naturally, if you were in that scenario, you would jump to, it doesn't mean you can't have a healthy pregnancy. It just means you have a higher chance of creating an embryo that does have um location. So that's where IVF can be really helpful, right? Because you can select embryos, like and that would be a great scenario if you Yeah, and actually, yeah, a lot of our patients that have translocations aren't classically infertile.

SPEAKER_00 30:08

They're struggling with fertility issues because of the translocation, but they're not infertile in the sense that their embryos, for example, recurrent miscarriage patients with translocations normally do very well in the lab because we're able to get all those embryos to grow out to the blastocyst stage, which is the stage that we need them to get to to do the testing. Because ultimately, if they're suffering with recurrent miscarriage, their embryos are making blastocysts inside them. So we're very much like this isn't a classic infertility story like some other infertility stories where there's no translocation, no reason, and there's other obviously other things that we need to be looking at. But no, actually, translocation individuals balance translocation do very, very well because we can create a group of embryos in one sitting and then only utilize the ones that don't have the unbalanced form that's causing the miscarriage. So yeah, they do they normally do very, very well in an IVF setting.

SPEAKER_01 31:00

It's really reassuring, and it's a great example of how IVF's developed over the timeframe that it's been around to really help a wider scope of people, right? Like with the technology that we've got in the labs now.

SPEAKER_00 31:11

We couldn't do this, we couldn't do this 20 20 years ago when I started embryology. We couldn't actually detect translocations.

SPEAKER_01 31:17

So actually sat through that development and seen that amazing.

SPEAKER_00 31:21

That's it's mad being able to say that that's what you've lived through because yeah, it's it's it's so amazing that we can do that now.

SPEAKER_01 31:29

Game changer for so many people, right? Like you look back and you think how many people, you know, 20, 30 years ago might you might have had a balanced translocation and that testing and the accessibility to everything we have now wasn't available, and they were told, well, you can't have a family. Or just keep trying and having more miscarriages. That was that was pretty much where we were at, right?

SPEAKER_00 31:48

So yeah.

SPEAKER_01 31:50

So if someone is under the care of the NHS and they have been lucky enough to get this testing, your advice would be to like push for genetic counselling if something comes up. So that is another issue we're seeing at the moment is that people aren't being referred to genetic counselors for support.

SPEAKER_00 32:05

Yeah, I don't think as much as we oh, yeah, I think we would like, and actually, there's some really also for people that are listening and maybe feel a bit lost in that system. There's some amazing private genetic counselors out there as well that I can give Rachel a list of that are incredibly good and not overly like exhaustively expensive if you wanted to access that privately. There's some really there's actually an embryologist that I used to work with years ago who's converted into genetic counselling. So has not only got that background of embryology, but then there's a counselor as well. So there's there's a lot of people like that in our industry that can be accessed really, really straightforwardly support.

SPEAKER_01 32:42

Yeah, that would be great. For anyone listening, I'll pop those details in the episode notes. So Emma will um get those over to me and we can share them with you. So yeah, thank you so much, Emma. Do you want to just tell people a little bit about what you do and in terms of like how you support people and how people can get in touch with you?

SPEAKER_00 32:58

Yeah, I I need a few more hours in the day. Like probably like you do, Rachel. So I Emma the embryologist on Instagram, where I try my hardest to uh hand over some quite interesting lab-based knowledge that gets lost on people and gives people fear. I think that this this closed door thing around the lab of it it just invokes fear and anxiety where there doesn't need to be. So the more you understand, the more you can advocate for yourself. I'm a massive believer in being able to advocate for yourself. I work at the Eve Well as the director of embryology. I oversee, we've got a clinic in Harley Street and a clinic in Hammersmith. So I oversee both the embryology teams there. And then I'm also the chair of trustees for Fertility Action Charity, where we are there's a huge amount of free available support groups for people in all different parts of their treatment journey, IVF. If you go onto the Fertility Action Instagram page, you can also find a support group if you feel you need to, and that's all being funded by the charity, which is which is amazing. So yeah, that and um lots of other things. Like I think last year I did a cycle from London to Paris for the charity, and this year we're we're going from Pembrokeshire, Rachel. So we're doing three, yeah. So again, charity work and stuff like that.

SPEAKER_01 34:15

Um and just for anyone listening, like Emma's Instagram page is amazing, like there is a huge amount of information on there that you will find helpful. So again, I'll pop that in the episode notes along with Fertility Action Network because we're all here from free resources, right? Like anything you can get your hands on that will help you with anything that you're going through fertility related is great. So, yeah, thank you so much, Emma. Super helpful. And hopefully, people listening will have a better understanding, and I know they will of uh karyotyping and genetic testing. So, yeah, thank you. Thank you.