I was so sad and angry for these people that they were throwing out their embryos that had the potential to possibly lead to a healthy live birth. Then I found out that I too had been misinformed regarding one of our now discarded embryos. I knew I had to do something.
During this time, I actually joined a bunch of Facebook groups. I had joined three different Facebook groups; a mosaic embryo group, a perfect mosaic embryo group, and a PGT-A abnormal embryo group. From those groups, I learned so much about the current science behind PGT-A. I learned that it wasn’t a perfect science. I also learned that there were plenty of people out there who were transferring mosaics and abnormal embryos, and it turns out they were having healthy children with normal karyotypes found after birth, so not mosaic like the PGT-A testing had revealed.
I also learned that there were some people that weren’t even being told if one of their abnormal embryos was actually a mosaic embryo. They would only find out later after contacting their genetic company that one of their abnormal embryos was in fact mosaic. The reason they hadn’t been told was because of some sort of contract between the genetic company and the REI regarding how the embryos were going to be reported. A decision that they were not even aware of.
At this point, I was just happy that I had my high-level mosaic and segmental on ice. I went to my new REI and I asked him if he would transfer my segmental and my mosaic, and his answer was yes. I got to work on moving those embryos from one clinic to the other. We did end up doing one more retrieval before transferring the high-level mosaic and the segmental. Neither of them implanted, but at least I was very happy that we were given the chance to try these embryos.
I’m not really sure where this next part of our story came into play and it was the reason why I created this petition.
In one of those Facebook groups that I mentioned, there was a woman talking about how she was newly pregnant with a baby that had been labeled a complex abnormal embryo with 4 chromosomes affected. She had had a dream that her complex abnormal embryo, who she happened to know was a girl, was going to be her baby. She convinced her REI to transfer this complex abnormal along with two other male complex abnormal embryos, and one of them stuck.
At the 20-week amniocentesis, she found out that she was actually carrying a fully healthy 46XX, chromosomally normal female. They were all shocked. She was shocked, the physicians were shocked. How could this be? This had to be the complex abnormal with the four chromosomal abnormalities because it was the only one that was female. So, they got to work and did further genetic testing. It turned out that this complex abnormal embryo was actually a low-level mosaic on each of those four chromosomes affected. It was wild.
It got me thinking. I think we were down to eight embryos left, and I knew that a bunch of them were complex abnormal. I started to wonder whether or not any of our complex abnormals were considered mosaic embryos. About two years after the fact, I contacted the genetic company yet again. I think this was probably my third call, because I had been talking to genetic counselors along the way. During the call I asked the following, “I know there is some new research that complex abnormals that are mosaic are becoming healthy children. Can you tell me a little bit more about mine and whether any of my complex abnormals would be considered mosaic?”
Of those embryos, one of them was in fact a low-level complex abnormal, it did have three chromosomal abnormalities, but all three chromosomal abnormalities were low-level mosaic abnormalities.
What did I do? I hoped for the best and said, “Let me contact my former REI’s office to see if there was a small chance that it may not have been discarded.” I couldn’t remember if I had put “send to science” or “discard” on the consent form. I had heard of another story of someone who had said “send to science” and she was able to get that mosaic embryo back, so I was hoping that it was in the science world somewhere and we would have a chance to use this low-level complex abnormal. Alas, it wasn’t going to be. The REI’s office confirmed that it had been in fact discarded.
I was sad and angry that we had lost this potential embryo, which set me to work on writing this petition so that hopefully no other person going through this would have to lose something that they worked so hard for emotionally, physically, and financially.
Dr. Aimee: Thank you for sharing your story. I am so sorry for all that you’ve been through. It just shows how incredible you are that you’re using your experience to help others. Thank you for doing that. What you’ve experienced is not lost on me in terms of the tremendous amount of loss that you’ve gone through. I really hope that you guys are successful and are able to have a healthy pregnancy soon.
Katie Herrero: Thank you. I appreciate that.
Dr. Aimee: As a patient, what were you told about mosaicism ahead of your PGT-A testing?
Katie Herrero: Nothing really that I can remember. They always throw so many consent forms at you before undergoing treatment. This was, I believe, 2019. So, there is a possibility that one of those consent forms did describe mosaicism a bit. I just really can’t remember.
What I can remember is having a discussion with that physician prior to the transfer of my euploid embryo. At that point, I didn’t know what they had done with the other embryos, so I asked him, “Where are the other embryos?” He said, “We still have them on ice.” I asked if I could keep the mosaic embryo and the segmental deletion embryo on ice, just because in my heart I’m like how could these possibly not have a chance. You’re telling me that it’s partly normal, partly abnormal. How could that one not have a chance? Something that’s missing just a tiny piece of a segment, how are you 100% sure that will not become a healthy live child?
He said yes, I could keep them. I also ask him, “What would you do in this situation if it was you and your wife?” His response was that he actually would choose not to transfer, just because they don’t really know what the future holds and that even if you did have a baby from a mosaic embryo, we’re not quite sure whether or not the mosaic cells would still be found in other parts of the baby, particularly important organs that may affect their health. It felt almost like a scare tactic of sorts; using the possibility that years later your child may have life long health issues related to this mosaicism.
With regard to my current clinic, I do know that they have consent forms for mosaic embryos prior to transfer. We did have to sign that before we transferred our high-level mosaic. I’m pretty sure they probably do have consents regarding mosaic embryos for those undergoing PGT-A after a retrieval, but since we had decided not to do PGT-A again for our subsequent retrievals, I’m not sure what their consent forms would have looked like for that.
Dr. Aimee: What do you think other patients know about mosaicism? Do you feel like, as you’re talking to other people, that most patients know and are aware about mosaicism and what it means regarding their embryos?
Katie Herrero: No. I don’t. I actually feel that most people are very unaware of what mosaicism is. Not just what it means, but which cells are being tested and that the cells tested are taken from the trophectoderm, the part that becomes the placenta, and not the inner cell mass, which becomes the baby. They also don’t realize that they are only taking a few cells for testing and that if only they chose 5-6 different cells they may have received very different results. People are generally not aware, at least according to Facebook groups that I’m in and the people in the Facebook groups are the ones coming to ask the questions. Imagine the people that don’t seek out other resources. They probably don’t even know which questions to even start to ask.
So, I do feel that most patients are not very aware of the mosaicism. Even if it is in the consent forms, there are so many consent forms. You know that. It’s so much information and it’s so hard to understand, particularly if you’re very new to this. Everything is so overwhelming. Even if you did sign a consent form regarding mosaic embryos, I don’t think you fully comprehend what that means, nor are you told what the potential new evidence and research is showing. You’re just told mosaicism is bad, the baby will be unhealthy or it will lead to a syndrome, not that there is new evidence showing a mosaic embryo may lead to a healthy live birth.
Dr. Aimee: In August 2020, the ASRM updated information about mosaicism, and I actually loved the committee opinion. They basically said that every clinic needs to tell their patients their reporting policy and transfer policy for mosaic embryos. But you really want them to go a step further in their recommendations, and that’s what you’re asking for in the petition. What specifically are you asking for?
Katie Herrero: I would like them to set a little bit more of a hard line to create a practice guideline regarding the genetic reporting of the embryos that doesn’t just encourage, but sets forth best practice for all REIs to provide full disclosure of the genetic makeup of each embryo created via assisted reproductive technology. I want them to tell the REIs that you must disclose. In fact, it would be considered not good practice if you don’t disclose.
I would also want them to go maybe a little step further and contact the genetic companies and say we want you, the genetic companies, to provide us with this information. If you don’t provide us with this information, then we will not do business with you.
Dr. Aimee: I couldn’t agree more. I feel like everyone has the right to know and has the right to full transparency about the genetic makeup of their embryos.
I have this pneumonic, embryo DIAMONDS. If people want to learn more about it, it’s at EmbryoDiamonds.com. Each letter refers to something really important that you should know about your embryos. The O in DIAMONDS is the official reports, which is something that I encourage each patient to request from any testing that they have done, especially the genetic reports. Sometimes these reports, like you said about the consent forms, they are so technical. I feel like people really need to talk to a genetic counselor or at least do a pretest consultation with the genetic testing company.
Is that something that you were ever offered? How do you think patients in general would feel about that?
Katie Herrero: I wasn’t offered any pre-test conversation with a genetic counselor. I was told to talk to a genetic counselor from the genetic company that we used once we got the answers back. We actually never did get an official report. I did happen to sit there with my pen and paper and made my REI read off to me each and every embryo and each and every abnormality that was present on each embryo, but I never got the official report.
I did find that first communication with the genetic counselor wasn’t super helpful. It was very open-ended. At that time, it did not have the current evidence. Again, this was a few years ago, so it may now be that it was just because the new research wasn’t quite out yet. I did find that I was going back to the genetic counselors again and asking for more details regarding those embryos.
I do think that most people would like that official report. It would be helpful just because they would at least have the information. If it is very confusing, they should always have access to a good genetic counselor.
Dr. Aimee: With other genetic tests, karyo screening companies sometimes come back and say, “We have your DNA, and we’ve now learned that this variant that we called benign now is pathogenic,” or the other way around. I feel like that could be something perhaps at genetic testing companies, that’s another step where they reach to all of their clients and they say, “New research, mosaic embryos can turn into beautiful healthy babies a lot of the time. Please reach out to your doctor to see if they have any of your embryos stored still.” That’s another thing that could happen as well.
Katie Herrero: That would be great.
Dr. Aimee: I am so inspired by how you’ve taken an issue that you’ve seen as a patient and you’re working to find a new outcome around it. I know it can take a while to get the most up to date info out to some doctors. I feel like it’s really powerful to have this kind of petition being created by you as a patient. I think you’re definitely coming from a place of love, you want to help other people, you want to make sure that no one has the experience of finding out that their mosaic embryo was discarded before they had made a decision themselves about discarding it.
Obviously, we have way more work to do. I think doctors are a little scared sometimes. We just don’t want people to miscarry. We want to make sure our pregnancy rates are up. When things are confusing, it’s almost better to not do something and not tell people things, but that’s not the right way to do things.
What would you like doctors to know about PGT-A testing from a patient perspective? How can we serve you better?
Katie Herrero: I first want to say that I want all REIs, all physicians, all your fertility team to know that we the patients truly do rely on your knowledge and expertise. People trust you guys, and we’re trusting you to give us up-to-date information regarding accurate treatment information and options. I just want everybody to sit on that and how that is a pretty powerful position for you guys to be in, and what that means for us. You do have the ability to help us tremendously along this very trying journey.
That being said, I feel like there are a couple of things I was able to think of that could help the fertility field in general help better serve us as patients.
I think the first one, and we touched on it a little bit, is to provide that education regarding the mosaic embryo prior to the retrieval. Like I said before, I don’t really think the consents are enough. People are not understanding them, they’re not reading it. Whether that’s a referral to the genetic counselor or the embryologist before the retrieval, I feel like some people have IVF classes that they make their patients sit in on where maybe you can ask questions ahead of time, something where somebody can be told what it truly means and talking to a few people that can break it down into easier to understand terms prior to doing the retrieval would be helpful.
We also need to know your policy regarding whether or not you would be willing to transfer a mosaic embryo. That may make the decision with whether or not we stay with you for retrieval or if we choose to go somewhere else. Maybe you’re willing to do the retrieval and keep our embryos, but not transfer them, so we can then transfer them to a different REI.
I also think that we shouldn’t have to sign any consent forms regarding discarding embryos until after the retrieval. Again, it goes back to these consent forms. I’ve heard so many stories where people are like, “My embryo was discarded. I never even told them to discard my embryo.” People are like, “Did you sign a consent form?” They’re like, “Yeah, probably.” You don’t even realize what you’re signing beforehand. So, I feel like any consents regarding discarding embryos can be saved until after the retrieval, and as you said, after somebody does get a chance to talk to the genetic counselor.
We also definitely need full disclosure. We would love it if you pushed the genetic companies to provide that full disclosure, taking a stand on our behalf. Again, we’re trusting you guys. We want you to be able to say, “Give me everything that we need to know about this embryo so that I can tell my patient what’s going on and we can make the best decision together.”
We also need to be directed toward resources regarding how to understand all of this. I’m also in healthcare, I’m a physical therapist, as you mentioned. I can’t know everything. That’s why we’re a team. REIs themselves don’t have to know all the resources, but the team together should be able to provide us with the resources that we can use in order to find out how we interpret the results of our PGT testing.
Then the last way would be to stay up to date on the current evidence regarding the mosaic embryos, and just know that the patient should always have some input into the decision regarding what their future is with these embryos.
Dr. Aimee: I love all of those tips and I feel like they should be printed out and sent to every clinic in the world, not just in this country.
I love the idea of not signing a discard consent form until after the retrieval. My system is this. You sign those consents up front, but you actually have to sign a separate discard before they are discarded. Even if you wanted your abnormal embryos discarded, they won’t get discarded until you initiate it again after the egg retrieval. That’s how we also prevent this from happening.
Katie Herrero: That’s perfect.
Dr. Aimee: What would you want a patient going into PGA testing to know at this point?
Katie Herrero: I would like patients to know that it’s still relatively new science, and a science that’s not always perfect.
The other big story that you frequently hear is when people happen to miscarry a euploid embryo and then it turns out that the euploid embryo was really abnormal. People are shocked, they’re in disbelief that this science is not perfect and that there was a possibility that the euploid embryo was actually not in fact fully euploid. But also, why could that not also go the other way, an abnormal being a mistake and is actually normal. I know that is a 1% chance, but a 1% chance can mean the difference between having my baby and not having my baby.
Just so that everybody knows it is a science that is changing, it’s not perfect, we’re learning new things every day. The research is currently ongoing and there are current changes to how things are done.
I know recently I was told that there was a possibility that a chaotic embryo was actually a result of testing error and not an embryo that had six million abnormalities. Ok, ok, that was a bit of an exaggeration, but that happened when I talked to the genetic counselor and I said, “I’m here to talk about a couple of my embryos,” and she said, “Let me guess, the chaotic and the–” I forget what the other one was. I was like, “The chaotic? No, I’m not asking about the chaotic. But why do you say that?” She was the one that told me that 30% of chaotics were a result of testing error. Again, this was my second time with a genetic counselor and I felt like I was getting so much more information. So, I do think it is important to talk to more than one person on more than one occasion.
I’d also want patients to know that it is okay to ask questions. Find out if mosaicism is reported. Find out if the percentage is reported. I would love to know if my high-level mosaic was a 78% abnormal or a 42% abnormal. I think that would be worthwhile information to know when I’m trying to decide whether or not I would expect a transfer to work or not. I would also want to know if they’re going to report mosaicism on the complex abnormals, or even on segmentals. That was another thing that I learned from the genetic counselor. The segmental embryos are also frequently mosaic, even if they’re not reported as mosaic, just because of where they think the error occurs or at what time the error occurs in this growth process.
I think those would be the main things that I would want patients who are about to do PGT-A testing to know.
Dr. Aimee: As a patient, how have you gone about making sure you are heard and your questions are answered?
Katie Herrero: For me, I actually feel pretty lucky with my fertility advocacy because it has come somewhat easy for me. Whether that’s because I have to do it for my own patients as a physical therapist, I’m constantly and frequently advocating for my own patients, so I know what it’s like to advocate, I know what needs to be done. I also know that we are all human and that people are busy. Even you, doing your work this morning and then coming to chat with me. It’s amazing.
I do know that people can just be overwhelmed at times. Also, people forget what it’s like to not know something. I know more than what most of my patients coming to me know. So, I do feel like: just ask questions. For me, that has been my biggest thing. I want to know what’s going on with my body.
If I have bloodwork in the morning, I make sure that they tell me all of my numbers so that I can be an active participant in my care. If something doesn’t seem right, I’ll ask a gentle question. If there is something that I need pushed back, like if it’s a transfer and it doesn’t matter if it’s pushed back a day and it works better for my schedule, I’ll say so and I’ll speak up because I know that sometimes these things are flexible.
If I am having a discussion with my physician regarding my care, I may do a little bit of research prior to the appointment. If I learned about some new treatment or testing, I’ll just ask about it. If they happen to say no, I’ll ask why. I do want to hear the clinical reasoning. I want you to explain to me why you’re saying no to that or why you may think that’s a great idea. If it’s something that you say no to, and it’s something that I’ve been researching a little bit more and feel strongly about, that might be the time that I go and seek an opinion from a different REI.
I do know that, like with everything in life, not all fertility teams are created equally. One team might be really good at helping a patient with immune issues, another team: a patient with DOR, and another team: a patient with PCOS or endometriosis. I do feel that every patient should find a team that best fits their current situation.
Dr. Aimee: Such amazing advice. I feel like you’re speaking in a way that will help so many patients.
Dr. Aimee: Where can people learn more about your petition and sign it if they would like to?
Katie Herrero: I feel like this is the hardest question! I think the easiest way for me was a Google search. If you Google search PGT-A resulting in mosaicism: a patient’s right to know, that should have a link to my Change.org petition. If it doesn’t come up on your Google search right away, just go to Change.org and put in that same title, PGT-A resulting in mosaicism: a patient’s right to know.
Dr. Aimee: I love it. Before you discard, you have to listen to this. If you’re out there as someone who is going through IVF and might be discarding embryos, make sure that they understand why they should go through your checklist before they do that.
Thank you, Katie, so much for your advocacy. You are literally changing the world. I imagine you’re going to hear so many success stories about embryos that you single-handedly saved through this petition and awareness. I’m trying here, I’m doing my best, but I think that you are single-handedly going to do a much better job than me. Thank you for everything.
Katie Herrero: Thank you so much for having me on your show. Truly, I think that you yourself already provide so much amazing support and knowledge for all of us. If I could even just save one woman and have her have that healthy live birth, I feel like this will be all worth it.
Dr. Aimee: Thank you, Katie. I do, too.
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