Daniela - Certified Genetic Counselor Part 2

[00:00:00] Season 3 of You and Me, Kid is brought to you by Seattle Sperm Bank. If you're planning to become a single parent by choice, you know this journey can be both exciting and daunting. That's where Seattle Sperm Bank comes in. They've got an amazing selection of donors and a super supportive team ready to help you find the right match. They were so warm, helpful, and kind to me as I picked my donor, I cannot recommend them enough. From the screening process to all the resources they offer, I really felt like I had an expert partner through the whole process.

[00:00:27] For my listeners who want to check them out, head to seattlespermbank.com and grab a free all access pass using the code YOUANDMEKID to start your search today. Okay, let's talk about the embryo stage. So whether you are using your own egg or you have an egg donor and then you've got, you've picked your donor sperm, you've worked with you guys, all of the gen and addicts line up, and you're now making embryos.

[00:00:54] You'll get the opportunity within the IVF process prior to transfer to then test those embryos as well. Talk me through what are the options, what are the benefits of doing them or not doing them. I didn't really feel like I had an option and I was excited to have those tested to make sure they were viable, but talk me through the second stage. Mm-hmm.

[00:01:15] This can come up as a really confusing topic in reproductive genetics because you have gone through an extensive amount of genetic testing prior to making the embryo, right? You've probably gone through a karyotype to look at your own bookshelf of how many chromosomes you have and how they're arranged. You likely have gone through carrier screening to look at the genes within the chromosomes. And now you're presented with yet another option of choosing a genetic test, and this is a test on embryo cells.

[00:01:44] This whole field of testing is called PGT, which stands for preimplantation genetic testing. The most common type of PGT is called PGTA. That A stands for the word aneuploidy, which means the wrong number of chromosomes or the incorrect number of books on the shelf. That's what aneuploidy is.

[00:02:07] And so this type of testing, genetic testing on embryos, the way that it works is that you fertilize an egg with sperm outside of the body, so in vitro, allow that embryo to grow in a lab for about five days, after which the embryo is now made up of 100-ish cells. All of those cells are genetically identical to one another. Remember back to our conversation about DNA being packed within the nuclei of each cell, organized on those chromosomes.

[00:02:36] But that stage of embryonic development, the cells along the outside of the periphery of the embryo, they will eventually become the placenta of the pregnancy, genetically identical to the baby. And then there's a little ball inside of the embryo that's called the inner cell mass that we know will eventually become the fetus or the baby.

[00:02:57] And so this is a great time to do genetic testing on an embryo before a pregnancy is established, because embryologists can use special lasers to go in and cauterize or remove just a couple cells of what would have become the placenta, not touching the cells that are precursor baby. Because remember, they're all genetically identical.

[00:03:19] So those cells that are biopsied from precursor placenta, they undergo a type of testing in PGTA to count the chromosomes. That's it. It's counting the chromosomes. Do we have two copies of chromosome one, two copies of chromosome two, et cetera? And interestingly, we'll also learn, is there an X and a second X? Is this an embryo female or is it an X and a Y chromosome?

[00:03:45] And the point of doing, the reason of doing PGTA is because we as women are born with every egg we'll ever have. As we age, our egg cells are aging with us. And our egg cells, as they're hanging out inside of our ovaries awaiting their call to be ovulated, they still have all 46 chromosomes inside of them, our egg cells, just like the rest of the cells of our body.

[00:04:09] And it's not actually until the sperm comes knocking on the door of the egg saying, I'm coming to fertilize you, that the egg gets this final signal to take her 46 chromosomes and shed half of them and only keep one copy of each book. And so you can imagine that these two copies of chromosome one, two copies of chromosome two, et cetera, they've been glued together for 40 years. If you're 40 years old at the time of fertilization.

[00:04:36] And the longer they're glued together, the harder it is for them to pull apart. And so that leads to this increased risk as we as women age, that our chromosome pairs are not going to pull apart appropriately. And at the moment they're supposed to do their final act of final cell division, maybe two copies of a specific chromosome, they don't pull apart adequately. One, or sorry, both of them are shed. In which case we are now lacking an entire book in the embryo.

[00:05:06] That is so much missing genetic information. That embryo will unlikely ever even make a pregnancy. It may not ever even implant. Or maybe it implants, but it miscarries, which is those two are the most common results of an embryo that's, that is chromosomally imbalanced. There are some chromosome abnormalities that can survive to term in a live birth.

[00:05:29] The most common that we're all familiar with is Down syndrome, which is caused by there being a whole extra copy of chromosome 21. And remember before we had mentioned that basically the bigger of the number of the chromosome, the smaller the chromosome. That's one of the very smallest chromosomes. So the genetic imbalance of having a whole extra copy is enough to create the symptoms of the disease, of the condition trisomy 21 or Down syndrome.

[00:05:55] But it's not so much genetic imbalance that those embryos always fail to implant or those pregnancies always miscarry. That's why they can survive to birth. Every time I talk to one of you guys, I feel like I'm a little bit embarrassed that I don't know this about my own body. But I feel like a lot of people don't. And I didn't even really realize that was what this testing was at the beginning of the process.

[00:06:17] I want to back up for one second because I don't remember what of this testing is required from your doctor. And what do you get to opt in and out of? Because there's a price tag on all of it, right? You guys do all of your testing and we, choosing a donor, do not have to pay for it. But once we get into this stage, there is a price tag on all of this. What is required and what can you opt in and out of? Nothing is required.

[00:06:45] So no one is going to tell you you must do genetic testing on your embryos. That is your choice. Because certain clinics are going to say, in order for you to do XYZ, you have to do XYZ. For example, some clinics might say, if you're CMV negative at our clinic, we only allow you to choose donors who are also CMV negative. And we can get into a CMV conversation if you want to in a bit. So certain clinics will have rules of how they operate.

[00:07:14] But doing PGTA, genetic testing on embryos, to count the chromosomes is a decision. It's a personal decision that you'll make. The recommendation to do genetic testing on embryos for chromosome imbalances will begin as we as women age. And certain clinics will offer it at different times. Usually it's 35. If you're 35 years of, if your egg cells are 35 years of age or older, there's a consideration to add in this genetic test to look for chromosome imbalances.

[00:07:43] Because we just know that naturally they're going to occur at higher rates as we age. That's PGTA, genetic testing on embryos for aneuploidy. And that's almost exclusively just related to the age of our egg cells. There's another type of genetic testing that you can do on embryos called PGTM. And that M stands for monogenic disorders.

[00:08:08] And that's really a specialized, a very specialized type of genetic test on an embryo where you know, going into creation of embryos, that there is a risk that an embryo will inherit a genetic disease. For example, my husband and I are both carriers of a severe recessive genetic disease. We want to have biologic children.

[00:08:30] We could do IVF, create embryos, then test the embryos because the risk is one in four per embryo that they will have inherited our recessive disease. Test the embryo DNA. So go deep within the book or the chromosome. Find the genetic variant location and see, did the embryo inherit the gene mutation or variation or not?

[00:08:52] And then identify of all the embryos we've created, which have inherited both mutations or variants and are at risk of the disease and which are healthy and which are just carriers like mom and dad. And then only transfer the embryos that are either just carriers or completely unaffected into the uterus for pregnancy. And that type of testing, as I mentioned, it requires an extensive probe setup.

[00:09:19] It requires a lot of work in the lab to create the probes to identify those variants that must be identified in mom and dad first. And so this is not a run-of-the-mill test that's done. And I bring this up because a lot of people say, I don't need to do carrier screening because I'm doing genetic testing on the embryo. Thinking that genetic testing on the embryo is opening the cover of any of those books.

[00:09:44] Unless you're doing something very specialized that's preplanned, PGTM, you're not doing carrier screening on embryos. You're not looking at the gene level when you do embryo testing. And this process is such a cadence, right? Why not get that information earlier in the process so you're not going through making the embryos or even transferring at that point when something, you may be able to catch something earlier on.

[00:10:10] So giving yourself the best chance of having a healthy embryo and a healthy pregnancy by taking all of these steps. You got it. Okay. So after the embryos are in the lab for those five or six days, I remember they got sent out for two weeks. And then that was like the last big hurdle of whether I was going to have viable embryos. That is often when folks get a really happy call or a really difficult call. That is the PGTA testing. Is that correct? That's correct. Yeah.

[00:10:40] And so embryos, right after the biopsy is complete, they are flash frozen in liquid nitrogen. You can think of them like being stored in a sheet of glass. This is not last year's ice cream that you find in the back of your freezer. There's no freezer burn happening. They are frozen in time in liquid nitrogen while we await genetic testing results. Once those are reported, maybe you have, do you remember how many embryos you had to test?

[00:11:07] I think I had, gosh, I want to say I had three. Okay. The time I got out. Okay. So you're anticipating results on three embryos and then your physician or the embryologist calls you and says the results are available. Embryo one is chromosomally abnormal. It's lacking a whole copy of chromosome one. It would have never implanted. Embryo two is chromosomally balanced. Embryo three has an extra copy of a chromosome.

[00:11:36] Also, we know would naturally result in a miscarriage. So now you went from three to one. That one embryo, and this might be worth just bringing up because we're looking at sex chromosomes as well. They may, and different clinics have different policies on disclosure of sex chromosomal information. They may say to you, you've got one embryo available for transfer for pregnancy, and we're sitting here looking at the report, and we know what the sex chromosomes say. Do you want to know? Did they tell you this? That's what happened to me. Yeah. Okay.

[00:12:06] And at that point, I had gone through three retrievals. This was like my only embryo, and so I needed some good, exciting news at that point. So I was like, yeah, tell me. Let's go. But I remember that call very clearly, and I do remember spending over the course of, at that point, it was probably three weeks where the embryos were growing in the lab, talking to the embryologists a lot about the progress. And they call every single day, and they let you know. And so I now, in this conversation, I'm understanding so much more about those conversations.

[00:12:35] I wish we had talked two years ago. But yeah, in that moment, I did decide to find out that I was having a child. You learned. Ellie was a girl. That's right. Yeah. Wow. That's so exciting. They're such monumental conversations, aren't they? They are. And can I ask you a question about that stage too? Because so often, I only had one embryo, but a lot of folks that I talked to have multiple embryos. And then with the embryos comes this. I remember very clearly, Ellie was a B plus, and I felt like that was really on brand for our family.

[00:13:02] I was like, we're not, I'm not an overachiever. I'm like really just happy, happy right there at B plus. But can you talk about those grades or is that more of an embryology? Yeah, it's a bit of an embryology question, but I can certainly give you an overview of it. I love the on brand for a B plus. So the grading scale, I'm trying to remember back from working clinically with these embryos.

[00:13:25] The grading scale is really divided into the A's and B's bits are divided into, remember I had described the outside of the embryo that's precursor placenta, the inside of the embryo that's precursor baby. So an embryo that is an AA embryo, for example, means the quality, quantity, symmetry of the cells that make up precursor placenta, trophectoderm cells, is as best as it can be at that stage of development.

[00:13:52] And an A also for the inner cell mass precursor baby would signify that the quantity of cells, quality of cells, morphology, the shape of the cells is exactly what you'd expect. If an embryo wasn't as developed as it should be at a certain stage or day of development, maybe you have less cells, they are not as differentiated, then it moves into B or C category. Where I used to work, we didn't have pluses.

[00:14:18] So we would have two letters associated with the embryo that was related to those two cell types. And then there was a number that came first and that had to do with the size of the embryo and the quantity of days it took to develop to that stage of embryonic development. So you could have a day five, 5AA embryo, which would be the overachiever embryo. That would be transferred first for a day five embryo that's a 3 BC, for example.

[00:14:46] Because we know that implantation rates are going to be higher with the higher graded embryos embryologically. Now there's different grading scales that can be used. So really important if you're trying to ascertain or understand what the grading scale is and how that can translate into live birth rate or implantation rate, pregnancy rate, really important to ask your doctor. Yeah.

[00:15:10] This is one of those things that I laugh when folks are 15 steps ahead of the process in that, oh, when we get all these embryos, we're definitely going to, we want to have a girl or we want to have a boy. And you're going to have a lot more information than just the sex at that point that will inform whether which embryo you move forward with, which one the doctor is recommending.

[00:15:33] And I will say, I think this is accurate, but if even though you're going through the fertility process, you still have the opportunity to be surprised, right? So if you have multiple embryos, you can tell the doctor, hey, you pick the one that you think is the best and don't tell me and still have that element of surprise at birth if you want it. You don't have to give that up. Absolutely. And a lot of patients do say, I don't want to know that I have been so intimately involved in every step of this process. I want something to remain a mystery.

[00:16:03] And so transfer the best quality embryo, which is what every clinic is going to recommend anyway. Let's transfer best quality embryos because that whole goal here is to start a family or to have a pregnancy. But the other thing to note, and this is one of those little asterisks or caveats, is that remember it's called preimplantation genetic screening. So we have a small amount of cells to work with and a limited technology to use for that small amount of DNA. And so we never call this diagnostic testing.

[00:16:32] There's always a chance that the lab doesn't fully get it right or that we don't have enough genetic information to feel super confident with the results. Before you're painting the nursery certain colors or buying certain clothes or all the things, remember there's always a chance of an element of surprise coming even if you do learn the sex of the embryo at the time of testing. That's so important to remember.

[00:16:55] I have a very clear memory as well of at my transfer, being in the room, being prepped for transfer, and then getting to watch the embryologist who was right next door to me at the transfer. Use the little vacuum, pull out the embryo, and that embryo just walked five feet over to me and then they transferred it.

[00:17:15] But it was really the element of how important cell science and the scientists in this process is I did not know going in. And there's so many questions that folks have going into IVF and so many things that they're struggling with about the future. But at the end of the day, this is cell science.

[00:17:35] And I was completely in awe of the scientists that were a part of my process and how much I was able to glean from them and how helpful that was for me to help make decisions about, am I going to move forward with another round or is this the right embryo? Is this the right donor? So I felt very supported by both kind, loving, wonderful, empathetic, compassionate people who just were getting to know me as a human, but also really using the data. Yeah, I share that awe of the scientists.

[00:18:03] One of my dearest friends is the head embryologist of the clinic I used to work for. And I one day was having lunch with him at his house. He's also an exceptional gardener. And I was blown away by the plants and the garden that seemed to be coming out of the walls and the woodwork all around inside and outside of his house. And I mentioned something to him about how I'd never met someone with such a green thumb.

[00:18:29] And he looked at me and he said, Daniela, I grow humans for my job. Of course I can grow plants. And he's such a scientist and he's so meticulous. But in that moment, I felt something larger than that. This is one of my gifts on this planet, which is to help things grow and to give them that nourishing space, the science of it all, and the love that comes in with doing something so important.

[00:18:58] And so when you said that you're just in awe, you are so enthralled by the science of what is happening behind the scenes. I share that. I love that story. Oh, my gosh. And I felt a lot of that throughout my process as well because you are talking to these folks. There's a lot of personal kind of customer service also that goes with calling somebody and giving them good news or bad news or explaining genetic screenings to them and knowing what that might mean for their future or their dreams for a family.

[00:19:27] And so I think it takes a really specific and special type of person to do what you do and do what they do. Before we jump off, if folks are at the beginning of this process, they're trying to decide if this is something that is right for them, they're a little bit scared of the donor sperm world, they're a little bit scared of all of these unknowns, what's some advice that you would give them in terms of going about this in the right way?

[00:19:56] I think one thing we didn't touch on fully when we were having a conversation of carrier screen that I want to go back to because this really is a good take-home message is that when you're finding a donor, really, first of all, first, lean on your intuition. Come up with your list of what is super important to you. You are ultimately going to get to the obstacle, which is genetics. Am I a match with this person?

[00:20:20] And I can give some tips on how to look for that and search for that on the website and through your own testing. Or you can just make a consult to talk to one of us genetic counselors on the phone, and we can look at his genetic carrier screening results, the carrier screening results of the egg source, and tell them whether or not it's a match. Talk about the family history. Go through these numbers. So I think the important thing is first rely on what it is that is important to you. Narrow down your search.

[00:20:49] Know that genetics is going to be a piece of that. That's why we're here to help. But when you're doing it yourself, one thing that is an important piece of advice to hold on to, if you're comparing genetic testing results of a donor and of the egg source or yourself, do not just look at the name of the disease for which the egg or the sperm source are a carrier.

[00:21:12] Because different laboratories sometimes call the same condition by two different names, and so we could get it wrong. The underlying common denominator is the name of the gene involved in the condition. So that is a really important tool to use if you yourself are looking at carrier screening results. So that's one thing I wanted to highlight. The other is just, do I do genetic testing on myself, and how do I go about doing that?

[00:21:42] One thing that's important to know is you can't order it on yourself. You need a provider. And depending on your insurance company and your OBGYN or your provider, there may already be a contract with your insurance in a specific lab, so you may not have a choice in which carrier screening lab you use. Ideally, there would be one out there that all sperm donors do and then all egg sources have access to. But the reality of it is that it's a moving target. There are lots of carrier screening labs.

[00:22:10] They're changing their panels all the time. We've changed our panel many times over the years. We're currently testing our donors for over 500 conditions. You can just try as best you can to get close. Once you get close and you do the panel that your OBGYN suggests or you do a panel that seems to be pretty close to the donors,

[00:22:30] once those results are available, you need to match your results up with the donors to make sure he's not a carrier of something for which you're a carrier and vice versa. If we see a gap, pardon me, for example, the donor has not been screened for a condition for which you're a carrier, let us know because we run supplemental genetic tests on donors all the time. We can order that specific gene test on the donor.

[00:23:01] Awesome. That's so great. I'm so glad you mentioned that. And I would say too, again, what I didn't know going through the process and really should have leaned more into all the resources I now know are available is you don't even have to try to interpret any of this on your own. I know so many women who are Googling and we all know what happens when you take your medical issues to Google. Call a certified genetic counselor who's working with your fertility team or one that you know and they will walk you through this.

[00:23:28] You don't have to get scared over something that's not scary or worry. So use your resources. Great advice. I love it. Thank you so much for chatting through this. I think this is definitely one of the most informative chats I've had on the podcast. I really wish I knew all of this two years ago, but I think it's going to be hugely helpful regardless of what stage mamas are in, especially as it relates to IVF. So thank you. Thank you.

[00:23:56] Thank you for just explaining all this in such a digestible way. Thanks so much for listening to today's episode. I hope you enjoyed it. For more information about the podcast or me, go to youandmekidpod.com. See you soon.