“Confined Placental Mosaicism: Quite the Scare” – with Brooke Balterman

Dr. Fox: Welcome to “High-Risk Birth Stories” brought to you by the creators of the “Healthful Woman” podcast. I’m your host, Dr. Nathan Fox. “High-Risk Birth Stories” is a podcast designed to give you, the listener, a window into the life-changing experiences of pregnancy, fertility, and childbirth.
All right, Brooke, welcome to the podcast. Thank you for volunteering. How are you doing?
Brooke: I’m doing well. A little sleep-deprived, but I’m doing well.
Dr. Fox: You have a newborn at home, right?
Brooke: Yep. He’s four and a half weeks.
Dr. Fox: We’re gonna be talking about his pregnancy. But you also have a toddler at home, yes?
Brooke: I do. I have Jack. He’s 22 months.
Dr. Fox: You’re in the thick of things as we say.
Brooke: Yep. Two under two.
Dr. Fox: You emailed us and volunteered your story, which I really appreciate, and for our listeners out there, please do. We take volunteers. We love it. How’d you come across the podcast in the first place? I’m curious.
Brooke: So when I was actually in a waiting room waiting for one of the many tests I had, which I’m sure we’ll get into, you know, dealing with this pregnancy, I was searching through my podcasts to see if I could find a podcast that touched upon what I was dealing with and I came across your other podcast, the “Healthful Woman” podcast and there was an episode with a genetic counselor. So I found that and through that I came to “High-Risk Birth Stories” as well.
Dr. Fox: Amazing. That’s so cool. And why did you decide to volunteer your own story? And for the record, you volunteered it even before you delivered, which is pretty cool.
Brooke: Yeah, even before I delivered. Someone very close to me was going through IVF. And, you know, in order to better understand what she was going through, I found that I would listen to podcasts, your podcast actually, a lot and try to get as much information as I could so I could have a meaningful conversation with her. Because the hardest part for me when I was going through what I was going through with… If I wanted to talk about it with someone, it was just me explaining it. And, you know, sometimes that’s not helpful to have to re-explain the story over and over. And I searched high and low to find podcasts or people or, you know, anyone who had gone through what I was going through and I really couldn’t find it. So I think that the person who I’m close with was grateful that I was informed when I talked to her about her IVF journey, so I was hoping that, you know, someday I could be that for someone who was going through what I was going through.
Dr. Fox: Take us back to before this pregnancy with baby George. Where were you in life? Where were you living? What was your story? Obviously, you had Jack who was a youngster at the time. And take us to the beginning of this pregnancy.
Brooke: So Jack was about one when I found out I was pregnant. Maybe he was 13 months. My husband and I… You know, I almost feel bad saying it because I know so many people are trying so hard to get pregnant, but this was not planned. You know, we wanted more than one child. But December 2020, the pandemic was still at a different height and we were unsure of how things were going to play out. So the plan was to maybe wait until the summer and see how things were and then start trying, but, you know, you could plan but that doesn’t always happen that way. It’s funny because my husband didn’t understand why I was taking a pregnancy test because I don’t even think my period was late, but I had heartburn and I had only… My whole life I’ve never had heartburn except when I was pregnant. And I took a pregnancy test assuming I would be, you know, “Oh my god, I’m just crazy and I just must’ve eaten something that upset my stomach.” But found that I was pregnant.
Dr. Fox: You’re an attorney, correct?
Brooke: Correct.
Dr. Fox: Now, were you back at work at the time or did you take time off when Jack was born?
Brooke: I was back at work and I was actually back in the office. We were on, you know, a rotating schedule. So we weren’t at full capacity, but I was going in. I live on Long Island. I was commuting into the city about two or three days a week.
Dr. Fox: Got it. Okay, and what about Scott? That’s your husband.
Brooke: He’s also an attorney, but he has been working remote since March 2020.
Dr. Fox: Wow. Okay, so he’s home, you’re in and out based on the day of the week, you have Jack at home, and now you’re pregnant. Did you have any concerns based on Jack’s pregnancy or did that go pretty smoothly?
Brooke: I had a great pregnancy with Jack. I mean, I exercised up until the very end. He was born on a Monday. I had done an Orangetheory class where I was running on the treadmill that Friday. I felt great the whole pregnancy, even the first trimester. So I sort of assumed we would go into this as easy and breezy as my pregnancy with Jack was. He was breech so I had a C section, but other than that everything went very smooth luckily.
Dr. Fox: So going into this pregnancy, other than the fact that it was a little bit of a surprise, were you concerned? Like was COVID, you know, high in your fears or was it just the inconvenience aspect of all of it?
Brooke: You know, I guess everyone had COVID high in their fears. And actually, when I found out I was pregnant, my mom had just gotten over COVID, so it was very much in our lives, although thank god none of us got it from her. I was concerned about COVID and impact on my health and potentially the fetus’s health, but more so I knew I was going to have to go to all the doctor’s appointments alone. I wasn’t sure what the hospital policy would be when the time came. But I was overall hopeful because I knew I was due in September and I was hopeful that by then we would have a vaccine and we would be in a better position,
Dr. Fox: Right. And so if you conceived at the end of 2020, by the time you’re in the middle of or the end of your first trimester, the vaccine was already rolling.
Brooke: Exactly.
Dr. Fox: Got it. And how did you approach the vaccine early in pregnancy? I’m curious because you were in that period where pregnant women really had no idea what to do because there was no data yet. It was just at the very beginning. And I remember at the time, you know, taking care of women, obviously, how do we counsel them? What do we do? And ultimately, so many women got vaccinated and it was proved pretty quickly how safe it was. What was that like for you as a decision?
Brooke: Well, I had decided fairly early on that I was going to get vaccinated while pregnant. I wanted to wait until I was out of my first trimester, and, you know, I wasn’t feeling well. I was nauseous, exhausted, all of the things that I didn’t have with my first pregnancy. So aside from waiting for, you know, more information to come out about the vaccine, I also wanted to feel better before I got the shot. And then ultimately, I ended up putting it off until things were more resolved with the issues I was having. And by then, which was April 2021, every doctor I consulted with, you know, whether it be when I was at the high risk at MFM or my regular Ob was telling me to get it, so I felt pretty confident getting it.
Dr. Fox: And now, you’ve mentioned a couple times that you had this complication or the situation during pregnancy, so why don’t we go into that? Tell us the story. What happened?
Brooke: In my first pregnancy, I had a friend who had just lost a pregnancy and she had found out through this NIPT testing that that pregnancy while it was still, you know… I guess at that point she was still pregnant, had markers for trisomy 18. So I was aware of this genetic testing, this NIPT testing, and what it could reveal, and I knew a lot more about it than I think most people going into that first eight-week appointment when it gets brought up. Because she had just had that experience. With Jack, with my first pregnancy, when it was offered to me, that NIPT genetic testing blood test, I definitely wanted it and I was definitely nervous about it. Going into my second pregnancy, I don’t know if I was just so consumed with having newly walking 13-month-olds or what it was. It was just not really on my radar as something to be concerned about so much so that I actually was thinking about not getting it, because that test you also can find out the sex of the baby and, for this pregnancy, I didn’t wanna find out. And I knew I would be so tempted if the results were in my email, you know, the way Sema4, the company that does it, they send you an email and there’s a little… You could click a button for a video. I knew I wasn’t gonna have any self-control. So I wasn’t sure I was even gonna get this test. With the first pregnancy, my husband was playing golf when I got the email and he begged me to wait the hour until he got home. I couldn’t even wait an hour, so I knew I was not gonna wait the whole pregnancy, so I wasn’t planning on getting it. And when I was at my first eight-week appointment and we saw the heartbeat and, you know, I was offered the test and I just… I don’t know why. I said “Okay, yes. Let’s book it for two weeks out and we’ll do this blood test.”
Dr. Fox: FYI, for your next pregnancy, we can order the test in a way that the fetal sex is not on the report at all, meaning it’s not available so you would not have to have that self-control. You could order without knowing the fetal sex. Just FYI moving forward.
Brooke: Good to know. For my first pregnancy, I was 30 when I got pregnant, and for the next pregnancy, I was only 32, so no one said I should be getting this or I was at high risk for any of these genetic issues. So it was almost offered to me as a fun way to find out the sex of the baby as early as possible. So other than… If I had not had the friend who had gone through the unfortunate experience of losing a pregnancy, I don’t really think I would have understood what the test meant other than there was gonna be a video with some balloons that said, “It’s a boy,” at the end. So I found myself agreeing to the test and going back two weeks later to get the blood work done.
Dr. Fox: Okay, and how did that turn out?
Brooke: I don’t wanna say I forgot about it because I was definitely nervous about it. You know, you know that something can come up that’s not great, but I was mostly anxious to just move on to the next trimester. I really wasn’t feeling well. So exhausted getting up in the morning. Felt crazy. So it wasn’t on top of mind. And about 10 days later, I got a phone call from my Ob’s office and I missed the call. I was in my office that day. And I knew something wasn’t right when I called back and the receptionist said “Well, the doctor’s going to have to call you back.” Because for my first pregnancy the receptionist told me the results. Even though I had already seen the email, she told me and that was the end of the conversation. So I knew at that point something wasn’t right. You know, I remember texting my husband, you know, panicking. I’m waiting. I had my phone on loud. I closed and locked my office door so no one would bother me. And she called back and the doctor said, “Your test results came in and there’s high markers for trisomy 13. This is 99% accurate, and so 99%, this pregnancy is not viable,” which later I learned is certainly not true, “and we’re going to send you for an ultrasound and then we can book you for a DNC.” It was basically the tone of the conversation that this pregnancy was not viable. And, you know, what I learned later is trisomy 13… If there’s full trisomy 13 it’s not typically compatible with life. And she kept saying this is 99% accurate.
Dr. Fox: Right. That’s not true with the test.
Brooke: I was devastated, and I really… You know, going into it, if you had asked me that morning how I would feel if I lost this pregnancy, I would have said, “I’m so grateful I’ve had a healthy beautiful son at home.” And I know so many women have pregnancy loss. You know, I knew I would be sad, but I thought, “This wasn’t planned. Sometimes this happens. It’s just a part of life.” And I didn’t realize or I didn’t understand how devastated I would be. So I immediately, I don’t know why I sat on the floor and was crying. And luckily, in 2020, everyone wears a mask, so I put my mask on and my sunglasses so no one could see me crying when I walked out. And I went home and, you know, I told my husband and my parents and my close friends that this pregnancy was not viable and how devastated I was to have that information.
Dr. Fox: Wow.
Brooke: Yeah. So the next day, my older son was actually scheduled for a surgical procedure. So in my mourning and grief of all of this, I was also so anxious for him, which in a way helps a little bit to keep my mind off of it, because I knew I had the ultrasound not at my regular Ob but at the MFM that’s affiliated with Northwell, you know, the hospital where I delivered, in the afternoon, so it was almost like not on top of mind. I was very upset. I met my mom for a long walk and we talked about it, and she had experienced pregnancy loss in her life, and so many people I know have experienced pregnancy loss, so I was really in that mindset. I spoke to my friend who had the pregnancy loss from the trisomy 18 and she let me know what to expect. I guess at her ultrasound there were so many, you know, defects that were not compatible with life and that pregnancy did not continue because of those defects. So I was sort of just expecting this ultrasound to be a confirmation of what I already knew and I started the process of grieving this pregnancy.
Come to the next afternoon, a very long wait by myself in the waiting room. My husband was not allowed to come in with me at that point still. So I was there by myself and he was home with our son who was recovering from the surgery and the anesthesia. That was when I found your podcast. I was sitting there and waiting for my ultrasound. I went in. I told them please turn off the screen. I didn’t wanna see anything on the ultrasound. You know, normally these ultrasounds are so exciting. And I just didn’t want to see. I just wanted to get it over with. And the ultrasound tech was very quiet. And in my mind, I figured, “Well, she’s very quiet because she’s seeing all these defects. She’s seeing what’s compatible with trisomy 13.” But it turns out, she was very quiet because she was expecting to see those things, but what she saw was a perfectly healthy pregnancy. At that point, I think I was about 11 weeks and 5 days. So when the doctor ultimately came in, she said there was something that she couldn’t tell if it was a defect in the brain or if it was just that I was so early that sometimes things aren’t fully formed yet. And she said, “But otherwise, none of the typical markers for a baby with trisomy 13 were evident on this ultrasound. She’s just saw a healthy pregnancy.”
Dr. Fox: At this point, you know, so you have the blood test where you’re told basically it’s 99% your baby has trisomy 13, which is a fatal diagnosis. That’s lethal. You know, there aren’t people walking around with trisomy 13. Yet you have an ultrasound where everything looks normal. So I’m curious, number one, how do you process it in your mind? And number two, how did the doctor explain to you… How did she reconcile that that was going on?
Brooke: Well, when we finished with the ultrasound, I met with the genetic counselor who was at MFM for Northwell and she was wonderful. We sat together for an hour. The plan had been to get my husband on the phone, but my husband was a little busy with my toddler who was coming off of anesthesia, a little woozy, so it was just me. And we went through what the NIPT test actually its level of accuracy. So I learned that for trisomy 13, its positive predictive value is only about, you know, 34% if there’s no markers on the ultrasound. And we went through all of the different, you know, things that could have been going on with this pregnancy. So we went through there could have been a twin that was a missed miscarriage and that’s why it was taking up the extra chromosome. And then I learned a phrase I had never heard which was mosaicism. And she explained to me it could mean there are some healthy cells and some cells that have this extra trisomy 13 chromosome. And at that point, they offered me the CVS testing, which, in retrospect, I think I probably was not necessarily a candidate for that. And, you know, waiting for the amnio would have made more sense. But they wanted me to come back when I was almost 13 weeks just so they could see what that anomaly was in the brain, if it was a true anomaly or if it was just that the skull hadn’t fully formed, as it would when you’re looking at a 12 or 13-week ultrasound. So I agreed that I was gonna come back in and do the CVS about five or six days later. And my understanding was there was gonna be an analysis that was a FISH analysis and I would get results 2 or 3 days after, and then the full analysis would be about 14 days later.
Dr. Fox: Did they tell you at the time that this idea of mosaicism where some cells are normal or some cells are abnormal, that there was a condition where that’s only present in the placenta and not present in the baby, or did they not get into that detail?
Brooke: I don’t think we got into that detail in that conversation. So I know… I had asked a lot of questions, and it’s very hard because this is something that logically I understood was not my fault. You know, chromosomes I have no control over. But I just remember asking so many questions if I had done something. You know, I had not known I was pregnant over the holidays and I drank, and for some reason I had this in my mind that this was my fault because I had alcohol in early pregnancy and all these questions. So I think in that first visit was mostly calming me down that I had done nothing wrong, that this is, as she explained, probably more common than we know because this NIPT test is fairly new and not everybody elects to get it. So she said this could be something that goes on that no one knows about without that. And I knew… she had explained to me that with trisomy 13, if there’s mosaicism in the baby, it’s really hard to know how much that’s going to impact, you know, any defects, so whether there would be any obvious defects on ultrasound or whether it would be defects at birth or later on in life. So I had this understanding that even if the pregnancy continued, that there was a big question mark as to whether or not this would be a healthy baby.
Dr. Fox: Yeah, I mean, the reason I mentioned this is because, as you said, in retrospect, you may have just gone straight to the amnio. And just for our listeners, the reason is when we do a CVS, the test is essentially checking the genetics of the placenta, which 99% of the time is exact same as the baby. But there is a condition where the placenta has this mosaic sort of result where some cells are normal and some cells are abnormal, but it’s not present in the baby, and that you would find out in amnio because the amnio is not placental cells. It’s cells that came from the baby. And so in this situation when this comes up, like you said, sometimes we say, “You know, why bother at the CVS. We may end up having to do an amnio anyways, so let’s just wait and do the amnio.” Whereas others feel, “You know what, I’d like to know if the placenta has the mosaicism.” Meaning I’d rather do both tests, the CVS and the amnio because I’ll get more information. And there isn’t a right or a wrong here, but it is a decision that has to be made. I mean, obviously, you did the CVS so, you know, you went in that direction, which is fine. And is that what you learned on the CVS?
Brooke: Yeah, so I went in. I did the CVS. Again, still had to do this alone, but…
Dr. Fox: COVID. Yeah, it’s not bad as people getting sick and hospitalized and ventilators and dying. Of course, it’s an inconvenience, but it’s a really bad inconvenience when you’re undergoing a frightening procedure and you’re terrified and you’re worried, and it’s really hard to do that alone. It just is. And just listen, I feel horrible for you to have to go through all this on your own, at least, you know, in-person in that sense. It’s very hard.
Brooke: Yeah. So I went in for the CVS. And I had done what I’m sure everybody would tell you not to do which is spent the next five days on the internet and reading all of the things that this could be in, and then also, you know, all of these unpleasant stories about having a CVS. But I will say how anxious I was for how unpleasant it would be, it really wasn’t that bad. The doctor was very calm, kind of talked to me through it. I’m someone who needs information, so she talked me through it as she was doing it. She was able to get enough fluid on the first try. And afterwards, I felt some mild cramping and I didn’t necessarily feel 100%, but I wasn’t feeling 100% anyway from the pregnancy so it’s hard to tell what was from the CVS and what was from the pregnancy. And she, you know, reassured me that the risk of miscarriage from a CVS is really very, very, very low and she was very experienced and had done many of these. So I felt confident going into it that that aspect of it would be okay.
And I know I went in on a Thursday, so I knew that those FISH results which is the initial results wouldn’t be back on Friday, so I had to go through that whole weekend just waiting. And in my mind, I decided I was going to pretend this pregnancy wasn’t happening. You know, I was gonna pretend I wasn’t feeling well for other reasons and I was just going to mourn the pregnancy, grieve the pregnancy, let myself have those feelings, so that way I wouldn’t feel a great sense of disappointment. I was so nervous to be hopeful. I guess that was kind of the theme of my whole pregnancy was being nervous to be hopeful. I let myself cry and I let myself… You know, I took a lot of long walks and I just processed that this pregnancy wasn’t gonna happen for me and I was probably gonna get bad results. And I really was so grateful that it was my second pregnancy and not my first pregnancy because I had a beautiful child and he kept me busy too and kept me… You know, like I said, a walker and a climber and, you know, a troublemaker, so I had my hands full with him.
And then on I think it was Monday afternoon, I got the phone call from the genetic counselor, and my husband was home so I put him on speaker. And she explained to me that there were some good cells and some bad cells, so this mosaicism was the explanation for the NIPT test. And that is the first time I think we talked about the possibility of the bad cells, if I would call them that, you know, the cells with the extra chromosome would be just in the placenta. And that was the first time she explained that to me as a possibility. So at this point, following that conversation, I knew there was a chance that either there was gonna be a healthy baby in an unhealthy placenta to some extent, or there was gonna be a baby where his or her health, I guess prognosis, was unknown because there would be some good cells and some bad cells.
Dr. Fox: And the baby, just for listeners that, you know, one option is that placenta’s got this mosaicism but the baby’s fine, and there’s some issues with that because the placenta is not great, but not genetic issues of the baby. Or the other option is that the placenta has these mixed cells as does the baby, and as you said before, that prognosis is somewhat uncertain because it depends how much good versus how much bad, although for trisomy 13 you would assume there’d be a significant amount of bad as well.
Brooke: So that’s what she wanted me to prepare for was, you know, that significant amount of bad in the baby but she was… I have to, you know, give her a tremendous amount of credit. And I remember even in that first visit through tears, you know, crying and snot running down my nose thinking this is such a cool and interesting job, because just going through all of this stuff with her I was like, “If this wasn’t happening to me, I would be fascinated by this.” You know, it’s happening to me so I’m not. And she was really very reassuring, and she wouldn’t give me any false hope. You know, I kept saying, “Can you give me a percentage chance? Can give me a percentage chance?” And she wouldn’t. But she said you just have to take each time you have an inconclusive result look at it as a good result because it means you’re moving on to the next step. You know, inconclusive is better than having a negative conclusion. So I tried to take that advice and accept the uncertainty. And when we hung up the phone, maybe about 15 minutes later, a doctor called me from my regular Ob’s office to ask me when I wanted to schedule the D&C because the CVS had come back with trisomy 13.
Dr. Fox: Oh, god.
Brooke: Yeah.
Dr. Fox: Oh dear.
Brooke: So I remember looking at my husband and I couldn’t even speak. I had her on speaker and he said, “I think you need to go talk to somebody, you know, in MFM and then call us back.” And she did and apologized, and she admitted that this is something that in the regular Ob practice they really hadn’t seen very much of, you know, where you have this positive marker on the NIPT but then the baby turns out to be okay. So she apologized, but it was like a continuation of the whiplash I kept having of good news, bad news, good news, bad news. But she did apologize that she was wrong about giving me that information. And at that point, the next step was to do the amnio.
Dr. Fox: Right. But you have to wait. You’re probably at 13 plus weeks now and you have to wait till 16 weeks?
Brooke: Yeah, so she had… The genetic counselor said, you know, I could come in at 15 weeks but there’s less of a chance of an accurate result and the best result would be to wait until 16 weeks. As much as I wanted the information, the best result would be 16 weeks, so I waited.
Dr. Fox: Right. Plus, at 16 weeks, you can see the baby better and look at the organs and look at the brain and look at the heart and so you get another sense. Babies of trisomy 13 pretty much always look abnormal. And so if the ultrasound is normal, the likelihood that you’re dealing with the baby with trisomy 13 or a significant portion of trisomy 13 is gonna be really, really lowered which is good, because it’s not true for other genetic conditions. In some of them the babies look fine in an ultrasound but that does not help you discern whether the results are gonna… you know, predict whether the results would be normal or abnormal on amnio.
Brooke: Yeah, so I was very happy that when I did the CVS, you know, whatever anomaly they had initially saw they didn’t see again, so it was just because of how early we were in the pregnancy. So they had at that 13-week ultrasound seen what looked like, you know, a healthy and normal pregnancy, but I also understood that that early it’s very hard to tell. It’s hard to see certain things. And I remember being in the kitchen with my husband and him saying, “You know, I think this is gonna be okay.” And for some reason that infuriated me.
Dr. Fox: Is he like that in general?
Brooke: No, he’s actually not. You know, I’d say he’s pretty negative of a guy. But he just kept saying, “I think this is gonna be okay.” And I, you know, was furious and said, “It’s very easy for you to say. You’re not the one who’s still throwing up and feeling exhausted.” And I had this tremendous anxiety about when I would start to feel the baby move, because, with my first pregnancy, it was the most exciting time, you know, those early flutters and you weren’t sure if it was movement or… And it was really when you started to connect that this was a baby and not just a pregnancy. And I was still in this mindset of I didn’t wanna acknowledge that I was pregnant. And I was so nervous that I knew by 16 weeks with a second pregnancy, I was likely gonna start to feel fetal movement. So that was just something I remember feeling, like, so anxious about, so nervous and somehow dreading something that should be so joyful, which, you know, is unfortunate, but it’s definitely how I felt. And again, I kept saying, the best way for me to deal with this is to assume that this pregnancy is not viable and I have to just continue to mourn the pregnancy because if I get my hopes up, I’m gonna be crushed again. It’s gonna be back to that phone call in my office where I fell to the floor crying and I don’t wanna do that. So I have to just keep pretending.
And what’s frustrating is I had told some of my close friends about this and I had told my parents and my in-laws what was going on. And, very well-meaning, everyone had a lot of questions and it was exhausting. Which is why when I wrote to you, I just felt like I wish someone could send the podcast explaining it. It was exhausting for me to explain to everyone what everything meant. And everyone had a different opinion or a different take or a complete misunderstanding of what was going on. And I remember my mom kept saying, “Well, if the placenta is not healthy, isn’t the baby not gonna be healthy?” And all of these questions that were just exhausting to answer.
Dr. Fox: How did the whole situation weigh on you emotionally day-to-day, meaning you said… Obviously, you had the anxiety and you had the fear and the sort of the way you were coping. But, like, were you able to go to work? Were you able to function? Were you able to go out? I mean, what were you like from a mental health perspective during those let’s say months or weeks?
Brooke: Well, work was actually, you know, the best thing for me. So, you know, I tried to get really busy involved in projects, you know, to stay busy and go into the office on the days I was allowed to go to the office and kind of stay busy, and that was really the only time I wasn’t thinking about it. And then also when you’re dealing with a toddler, it was easier for me to get my mind off of it. But the nights were horrible, and my husband would say, “I’m gonna to take your computer and your phone away.” Because I would just be constantly on the internet reading horror stories. I mean, for some reason, no one ever shares a positive story on the internet. Everything is horror stories.
Dr. Fox: They get wiped out. Yeah.
Brooke: There’s not one positive story on the internet. Everything is, “Oh, the amnio was wrong,” or, “The mosaicism they didn’t see any anomalies and the baby came out and didn’t live longer than a month.” You know, all of these horror stories were all over the internet. And I would just spend hours and hours and hours scouring medical journals, because placenta mosaicism is pretty rare and there’s not a lot on it in terms of if you go on… If you have any other issue in pregnancy, you can find a million other moms who’ve written in Facebook groups or message boards about their experience with it, but I couldn’t find anyone who had had this.
Dr. Fox: I guess your obstetricians obviously didn’t know too much about it, which happens. But I would think the MFM did. Did you have a consultation with her to go over what this meant or was it only the genetic counselor? Because I mean, in the MFM world, we do see this, not all the time, but we see it relatively frequently and we talk about it all the time. It’s something we… Anyone who does CVS is well aware of this.
Brooke: Well at that point, I was at MFM, which was affiliated with the hospital and I was seeing a different doctor each time, so it wasn’t like I had one doctor that was following. Later on, I ended up having just a regular high-risk MFM doctor that I saw regularly, but in the beginning, I was seeing a different doctor each time. So the only person I was talking to was the genetic counselor and she was great. I mean, I would text her and she would respond. I guess this is her job is to deal with the anxious pregnant women while they await results. But she was really great and answered as many questions as she could, but there’s only so much she could answer. And I just remember feeling this deep desperation to talk to someone who had been through this, and I didn’t care what the end result was, you know, if it was good or bad. I just wanted to talk to somebody. So, you know, I was part of a Facebook group for moms and I did post in there anonymously, and someone with somewhat of a similar experience reached out and it was so lovely to talk to her. It was a little bit different than what she went through, but just the idea of waiting on test results I guess was nice to just have somebody to talk to. You know, she needed an amnio for other reasons, but it was nice to just talk about the anxiety of waiting. But I just kept feeling desperate to hear somebody else who had gone through this and I could not find that anywhere.
Dr. Fox: And so how did the amnio go ultimately?
Brooke: For some reason, I was not nervous about the chance of miscarriage with the CVS, but for some reason, the amnio I was so nervous about. I guess I felt like I’d gotten this far and would that be just a kick in the teeth. And I remember reading somewhere if, you know, the person who’s doing it has done more than 500, the risk of miscarriage following it drops significantly. And when the doctor came in who was gonna perform it, I texted my parents and my husband, I was so happy he had gray hair so he probably had done more than 500. He’d been doing this for a while. I was very excited to see an older man. Again, still alone at this point. I think this was the end of March or April and they were still having me go in alone. And he was very relaxed about the amnio. I know after the CVS the doctor said don’t lift your toddler, don’t exercise. And this doctor said, “Oh, that’s ridiculous, you know. If going for a long walk or exercising makes you feel better, don’t lift heavy weights and don’t go, you know, on your longest run ever, but do what you need to do for your mental health. The baby’s gonna be fine.” And that was very reassuring for me.
And exercise is something that’s a big part of my life and makes, you know, mostly for my mental health so I was glad to hear that I didn’t have to sit around for a few days waiting. So he did the amnio. Didn’t get the fluid on the first try so it was a couple of pokes and prods, but otherwise, it was okay. And he said the baby looks great. You know, the heart looked good, the kidneys look good, everything really looked good, the brain looked good. And at that point, I would say, at that 16 weeks, that amnio was the first time I started to really let myself have a little bit of hope. You know, knowing that the baby looked good, I just started to get cautiously optimistic. And I can’t remember what day of the week, but two days later, I got a phone call from the genetic counselor with the initial FISH results, which I guess is just, you know, the first round, and everything looked good. So I was relieved, but again, so anxious. And she said, but, you know, we need the full results.
Dr. Fox: Yeah, more to come.
Brooke: More to come. And we had had a conversation about whether or not I wanted to, in addition to the full karyotype, which I guess looked at more cells. I’m not really sure the difference between the FISH and the karyotype. But if I wanted to do what she called a microarray test, and that would be to look at the individual chromosomes and see if there was maybe a broken piece or something, not an extra chromosome, but something that was wrong with the genetic makeup and that would be looking not just at the trisomy 13, you know, the 13th chromosome, but looking at all of them. And for some reason, again, this was a big decision for me to make because she said for some things, when we get these results back, we understand what the implications are, and for some, we really don’t. So, you know, we don’t know what it means if the ninth chromosome has a missing piece, but we could know that it does. And I wasn’t sure if I wanted to have information that I wouldn’t have an explanation for. But ultimately, I decided also to do the microarray array test, which, you know, just because I figured I’ve been through this.
Dr. Fox: Yeah, once you’re there, let’s find everything.
Brooke: I’m here. Let’s just do it. And I figured, you know, if it was good results, then I feel like I earned that peace of mind. I earned knowing that other things were good. So we decided to do that. And then the lab was backed up and it took over two weeks to get the results and I was driving this poor woman crazy asking her every day. And I guess because of COVID and things that were going on, labs were really backed up at that point and there was nothing she could do. And I talked myself into it’s taking a long time because there’s something wrong, which I learned is not true at all.
Dr. Fox: Yeah, I always warn people. I say if it takes longer, that’s not good news and it’s not bad news. It’s just the lab. It doesn’t work like that. In terms of the FISH versus what that is, the karyotype, which is when they count the chromosomes, make sure there’s the correct number of chromosomes. That’s essentially what you needed to check if there was an extra 13th chromosome or not. The FISH is just sort of like a quick and dirty look at that for 13 and 18, and 21. So if the FISH is normal for 13, it’s not the official count of the chromosomes, but it’s sort of like a fast way to be highly confident that it’s gonna come back normal, at least for 13. So in your situation, the FISH is a really good indicator that it’s gonna be okay, and then the karyotype confirms that as well as the other chromosomes. And then the microarray is like within each of the chromosomes, which is not sort of relevant to what you were going through, but as you said, you just want more information at that point because you’re like, “I’m just gonna find out everything and hopefully sleep at night at some point.”
Brooke: Exactly. And she said because of the markers from the NIPT, insurance would cover it and…
Dr. Fox: Yeah.
Brooke: You know, she was very… You know, I think a big theme of this pregnancy was how much information is too much information, because had I not done that NIPT tests, I never would’ve known any of this, and would that have put me in a better position for the pregnancy to just… You know, is ignorance bliss? And that was really what I was concerned about with the microarray. If I found out something was wrong, would I then spend my child’s entire life waiting for the other shoe to drop and that somehow be significant? But ultimately, I decided, let’s just do it. So it took about two and a half weeks later for those results. And during this time, my husband is thinking everything is great and he’s excited that this pregnancy is gonna be, you know, great, and we’re over it.
Dr. Fox: Yeah. And that’s irritating you terribly.
Brooke: Terribly, because to me… And at this point, I’m really starting to show. You know, second pregnancy in under two years. You know, your body knows how to get back to it and I’m still not ready to tell people. And, you know, I told like my close friends and family, but I’m not ready to tell people in my office or tell people, you know, my husband’s friends. And it’s starting to get warm, so hiding it is getting more difficult and I’m having, you know, anxiety about going places. So we would have outdoor kids’ birthday parties because things with COVID were calming down a bit, and I would not wanna go because I wouldn’t want people to ask. Although I realized that, you know, most people are not so rude as to ask if you’re pregnant because you have a belly.
Dr. Fox: Most but not all.
Brooke: Not all.
Dr. Fox: There’s always one person at the party who is gonna ask which is… It’s unfortunate. When you got those normal results ultimately, A, I’m gonna ask how relieved you were? And, B, were you 100% relieved or did you always feel like the other shoe is gonna drop?
Brooke: So I was not 100% relieved. The genetic counselor called. It must have been 18 and a half weeks at that point. And she said everything looks great. And, you know, I was in our bedroom folding some laundry and I put her on speakerphone, and my husband and I kind of jumped up and down excited and happy. And she said, “But, you know, wait till the 20-week ultrasound because I always tell people, once you get to that 20-week ultrasound with these results, you can really rest assured.” So I thought, “Oh God, another week and a half of going on the internet and worrying about inaccurate results.” And I think just holding on to the anxiety was hard to let go of the anxiety. I was so anxious the whole pregnancy and pushing the pregnancy out of my mind, I didn’t wanna think about it. I didn’t, you know, wanna accept that I was going to have another baby and that the pregnancy was gonna be healthy. So I was still about week and a half until my 20-week ultrasound I would say, so I was really anxious and nervous.
At that point, I just wanted to see the test results for myself. So I had not seen any of the results. These were just conversations with the genetic counselor, but I logged into my, you know, Northwell Health patient portal and I looked at the results, and that is when I found out it was a boy, because those results definitely say, you know, male, a normal male karyotype. And I had not wanted to know because I still felt like I wasn’t ready to move on and accept it and let myself be excited, but my husband was very excited. And, you know, I eventually got excited about having another boy. And I went to that 20-week ultrasound. And again, I think at this point I still was by myself. And this was still at the MFM affiliated with the hospital. And the ultrasound tech was so nice and walked me through everything, and it was the first time I let them put the screen on and I saw the baby. And it was one of those really, really long anatomy scans where they looked at everything and looked at it twice. And the genetic counselor came in at the end and she said, “Well, I hope I never see you again. We’re done.” So that was, you know, probably the first time I really felt relief.
Dr. Fox: Yeah. And then I assume they followed you closely the rest of the pregnancy just because the placenta had this genetic abnormality and it might lead to, you know, issues on how the baby is growing and this and that. But ultimately, was it pretty much straightforward after that point from a pregnancy perspective?
Brooke: At that point, I hadn’t been to my regular Ob since that blood test. So I started to go back to my regular Ob, and that’s when… They have an MFM doctor who’s part of the practice and that’s when I started going to see her as well. As it turns out, my parents know her socially and are friendly with her, so they were always excited. They would say, “Oh, what did Michelle say? If Michelle says it’s okay, it’s okay.” So that was kind of a relief to have somebody that I also knew personally. And that’s when I learned about some of the risks of having this confined placental mosaicism, which I was at a higher risk for gestational diabetes and there were maybe some growth issues with the pregnancy, so they followed me fairly closely. I did not have gestational diabetes, luckily.
At that first visit with the MFM at my Ob, you know, she showed me my placenta on the ultrasound, which I’ve never had looked at, and kind of explained to me how it did look a little bit… She described it as like cheesecloth, where it’s not exactly a plush and full placenta. There’s some issues there and we had to follow closely to make sure that the baby kept growing at a normal rate. So in the beginning, I think I was just going once a month, and then the growth started to slow. So he was in the 50th percentile and then the 30th percentile and then the 20th percentile for his size, so that’s when they started having me come in every two weeks and then every week.
Dr. Fox: Right. That’s why when you mentioned before this idea of, you know, is it better looking back had you not known the blood test at all and not known about the, you know, the placenta mosaicism? And in a certain sense, yes. Like, from a genetic perspective, yeah. It’d be better if you didn’t know any of this stuff because it just caused you grief and everything was fine. But, you know, there is sort of that advantage to knowing that the placenta is at risk for this. And so it’s one of the things we grapple with. You know, is it good to know this information that you’re at higher risk, even though genetically everything’s okay, or has it just caused so much grief and anxiety it’s just not worth it. And there’s no right or wrong answer and it’s obviously different for every person. Looking back, do you wish you didn’t know any of this? Like, if that blood test was never sent and you just, you know, whatever, had an amnio and it was normal and you’re good to go?
Brooke: You know, it’s hard now because I have this beautiful, healthy baby who, you know, not letting me sleep, but otherwise is perfect that I’m sort of glad we went through this journey and going there. But if you had asked me during the pregnancy, I would say, “Oh, my gosh, if I could do anything over it would be not to do that blood test.” So it’s hard to tell. It was, as it turned out, his growth was definitely impacted by this, six pounds. And he, like I said, at each sonogram, he was, you know, trending downwards in terms of his growth. So I’m glad we checked on it and I’m glad, you know, I was following. And when I would ask the MFM doctor, should I never have done the blood test, she said, “Absolutely, you should have done the blood test because that’s why you’re here and that’s why we’re checking on it. And, you know, you’re very lucky that your baby is still growing, but sometimes that isn’t the case. Some of these babies have to be delivered at 36, 37 weeks, so you wouldn’t know otherwise.”
Dr. Fox: She’s like, “I gotta make a living, you know.” No, but it’s also… I’m just kidding, obviously, but also part of it, I think, is I’m gonna go back to the initial phone call you got, which basically set you on a path of despair. And this is not a blame issue that this is how these things get interpreted all the time. But if in that initial call someone had called you and said, “Hey, listen, your blood test is abnormal. It says high risk or trisomy 13. That could mean your baby has trisomy 13, which would be horrible. The chance of that is let’s say one in three, but we’ll know that pretty quickly because the baby will look abnormal. We could do a CVS and we’ll find out. Or it could be a false positive. Your baby could be perfectly fine and we’re going to do some tests and one of the options is it’s just a false test and one of the options is you had another pregnancy the miscarried, and of the options is the placenta is weird but the baby’s not. And we’re gonna undergo all these tests.” You would have been anxious, obviously, and you’d been worried, but you would not have been in a situation where like, “Oh, this baby’s not gonna live.” And then it’s taking like months to, like, undo that from you. You know what I’m saying?
Brooke: Yeah, yeah. And I really felt like, you know, as I was nearing the end of my pregnancy, my mom kept saying, you know, “Are you thinking about names? Have you bought anything that you need for the baby?” I mean, I had just had a baby so I didn’t really need that much. But, you know, have you bought anything? Have you figured out which room you’re going to use? And all of that, you know, now that my husband had kind of converted a room into his office that he was working at home, Where is the baby going? And I think for me, I just couldn’t accept this pregnancy even until the end. Like, I couldn’t get myself together to get things ready, whereas for my first pregnancy, I had all of the furniture ordered, all of the things, the [inaudible 00:43:39] and whatever, the bottles and everything you need ordered and ready to go. And I had, you know, painted the room and all of those things in advance and been just excited. For this one, I couldn’t really come out of that grief. I never really got excited about the pregnancy.
I remember with my first, he was born in December, and that Thanksgiving long weekend I washed all the clothes. And I remember my husband and I couldn’t get over how cute the little newborn-sized clothes were. We couldn’t believe we were gonna have a baby that was that small and all of that exciting stuff. And this time, I just couldn’t get myself to do it. I mean, we did not have a name until he was born. We didn’t have… You know, I was having a really hard time emotionally getting behind this pregnancy and getting excited for it, which is a shame because pregnancy is exciting and it should be a time where maybe you don’t feel great, but you’re excited, and especially because it was my second and I understood the joy of needing a baby and becoming a mother is so exciting and wonderful. I really didn’t have any of that joy until he was born.
Dr. Fox: Tell us about the birth.
Brooke: So I was scheduled for a C-section on September 13th, you know, because I had the repeat C-section. And in my mind, I kept saying, “If I go into labor early, I’m gonna try for the VBAC.” Because, you know, I really wanted to do it. But I remember when I scheduled the C-section, the doctors said, “Well, you’re also probably not gonna wanna stay pregnant any longer than you you have to. If you know you could schedule it, you know most people just wanna do that and be done.” And I don’t know if you remember how hot August and the first weeks of September were, but I was ready to have that baby out of me. I was 100 degrees and chasing after a toddler. So that was our plan was I had the scheduled C and if I went into labor early…. And with my first I had a scheduled C and I did go into labor early, so I kind of was excited that that might happen again.
And on Labor Day, I went into labor and we went to the hospital. And I learned a really fun thing called prodromal labor, which is when you’re having painful, extremely painful contractions, but you’re not really in labor. So sometimes it’s called false labor. And they told me to go for a walk and go home and not come back until it was getting consistently intense, because I would have about two or three hours of really painful contractions five minutes apart and then they’d stop for an hour. And that lasted for two whole days of just excruciating pain. And I would say okay, “This is it. We’re going to the hospital.” And then they would stop. So I knew that it wasn’t it.
And by the time I ended up… You know, my mucus plug came out and I said, “Okay, we’re going back to the hospital.” That was a Wednesday morning. When I got there, she said, “Oh, you’re only two centimeters dilated.” And again, I was like… I still think I wanted to do the VBAC even though I haven’t slept in two days and I’m in so much pain. And I was so happy that morning because it was the doctor from my practice who had done my first C-section and I absolutely loved her. So I was so happy she was on call, and she said, “Why don’t we keep checking you? I have a million C-sections today. And we’ll keep checking you and if you don’t progress, we’ll do the C-section.” And at around 1:00 pm, I grabbed my husband’s hands and I said, “I need an epidural. I’m in so much pain, I can’t take another second of it.” And she said, “I have an opening in the operating room. I can either get you the epidural and we can keep tracking you or I can do the C-section.” And I said, “Let’s go. Let’s do the C-section.”
And and he was born, and she… This doctor was, you know… She knew everything that had gone on, and when he came out, you know, and she said he’s perfect. There’s no words to describe the feelings of hearing him scream and seeing him for the first time. And I don’t wanna compare children or pregnancies because seeing your firstborn for the first time is an extremely special moment, but this was beyond-words-special for me because it was like I finally accepted this pregnancy and this life and I saw him and he was absolutely beautiful and teeny tiny and they put him on my chest. And for my first pregnancy, I guess when they were sewing me up, they kicked my husband out and they kicked the baby out with him, and they started to do that. And the doctor looked at… I don’t know if it was the pediatrician who was in the room or if it was whoever was trying to kick them out, and she said, “She needs this. The baby can stay.” So the baby stayed on me until the very end when they had to move me, you know, from the operating table onto the gurney and then he went out with my husband and I got that extra time of just holding him and seeing him and seeing how perfect he was and I finally felt like this immense amount of relief.
Dr. Fox: Wow what an amazing, amazing story. I mean obviously, it’s also great that it ended up being a happy story and not a devastating, you know, pregnancy loss and that’s just amazing, and such a roller coaster for you. Looking back, what do you want others to take away from this story, from your story?
Brooke: You know, I don’t know that there’s really anything to take away other than, one, you don’t know how you’re gonna feel about something until you experience it. Like I said, if you had asked me on my way to the office the morning before that phone call how I would have felt about a pregnancy loss, I would’ve felt like I would be stoic about it and that it was my second pregnancy and I was so lucky to get pregnant so easily that second time and that I would’ve been okay about it, and I really wasn’t. I mean that devastation and that heartbreak was indescribable, and I’m a pretty… I don’t wanna say I’m a cold person, but I am. You know, I’m not someone who really loses it. My husband used to say before I became a mother he was nervous I’d be a cold mother. I’m not at all, but, you know, I can be very clinical. You know, if this is what it is, one in five pregnancies end in loss, why would I think I wouldn’t be part of that? But you just don’t know how you’re gonna feel until you feel that.
And I think I have such tremendous empathy for women I know who lose pregnancies in a way that I probably would never have had had I not experienced this. Not that I was unempathetic, but, you know, you don’t know how you’re gonna feel until you experience something. And for me, having information was the most calming thing, even though it was always bad news and always, you know, horror stories. Understanding things was really so helpful for me, which is why I wanted to tell the story because I’m probably not the last person who’s gonna have to go through those two months of waiting to find out, and just having all the information and knowing more is such a powerful tool to get through things.
Dr. Fox: Brooke, thank you so much for volunteering. You’re a great storyteller first of all, and it is a great story. And I agree. I think this is something that is going to happen more and more frequently as this NIPT test, which I think is a great test, is done almost routinely now on all pregnancies. And so the 1%, or 1% to 2% of times there is confined placental mosaicism, and that’s the number. So it’s a low number, but if you think of all the people who get pregnant, that’s a lot of people. It’s gonna get picked up now compared to before. And I think that, again, if someone does have that, or potentially has that, and comes across your podcast and hears your story, I think it’s gonna be really helpful for women to hear it, and obviously, to hear that there’s possibly a light at the end of the tunnel that it’s gonna go okay, but just the journey going through it, that it’s not uncommon, it’s not unusual, and all the emotions that someone’s going to feel in that time are quite normal and valid. And so I think that this is a really important story to tell. So thank you.
Brooke: Thank you. And I really do love your podcast. I listen all the time. So you know, “The Healthful Woman” podcast is one of my favorite, and I really started getting into the “High-Risk Pregnancy Stories.” And like I said, with the person close to me going through IVF, I think she gets excited when she would tell me something coming up and I would say, “Oh, well, I know what that means.” You know, they’re doing that shot for this reason. So it is it is really comforting when you have somebody that understands what’s going on and you don’t have to be explaining something over and over. So I think it’s really great that you have this podcast so people can say, “Hey, why don’t you listen to this episode instead of me having to explain it for the 10th time.”
Dr. Fox: I will take the shout-out. Thank you.
Brooke: Thank you so much.
Dr. Fox: Thank you for listening to “High-risk Birth Stories” brought to you by the creators of “The Healthful Woman” podcast. If you’re interested in telling your birth story on our podcast, please go to our partner website at www.healthfulwoman.com and click the link for sharing your story. You can also email us directly at hrbs@highriskbirthstories.com. If you liked today’s podcast, please be sure to check out our “Healthful Woman” podcast as well, where I speak with the leaders in the field to help you learn more about women’s health, pregnancy, and wellness. Have a great day.
The information discussed in “High-risk Birth Stories” is intended for information and entertainment only and does not replace medical care from your physician. The stories and experiences discussed in our podcasts are unique to each guest and are not intended to be representative of any standard of care or expected outcomes. As always, we encourage you to speak with your own doctor about specific diagnoses and treatment options for an effective treatment plan. Guests on high-risk birth stories have given them permission for us to share their personal health information.