In this blog post, Rebecca is sharing her unmedicated hospital birth where she had a Trisomy 21 diagnosis after having genetic screening and then diagnostic testing done. Trisomy 21 is more commonly known as Down’s Syndrome. And read to how she navigates not just having that high-risk pregnancy due to her diagnosis, but also finding a supportive provider who would support all of her birthing desires.
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Before we dive into Rebecca’s birth story, let’s just discuss the genetic screening options they will offer you during your pregnancy that you can do if you choose to.
What are the genetic screening options?
First Trimester Genetic Screening Options:
- NIPT: Noninvasive Prenatal Testing
- Blood screening to look at DNA for potential markers
- Nuchal Translucency Screening
- Ultrasound to look at neck folds for potential chromosomal abnormalities
During the first trimester, there are two main types. Rebecca got the NIPT test, which is noninvasive prenatal testing. That is a blood screening where they can look at the DNA that’s in your body to see if the baby has potential markers for specific chromosomal abnormalities as well as a nuchal translucency screening, which is an ultrasound where they look at the neck folds of your baby.
If there are increased neck folds on the baby, this is an increased sign that there could be chromosomal abnormalities. These two tests are screenings just because they come back positive, it does not mean that you will have a diagnosis, but it means that they will likely want to do further testing on baby to see if there is truly a diagnosis here or if the screening just came back as a false positive.
Second Trimester Genetic Screening:
- Quad Screen:
- Blood test to look for signs of chromosomal conditions
- Anatomy Scan:
- Ultrasound that looks for potential markers for chromosomal abnormalities
During the second trimester, there are also some genetic screenings. The most common one done is the quads screen, which is a blood test that they also can look at to see if there are any signs of a chromosomal condition. And it’s typically done twice during the second trimester. They’ll also be doing that anatomy scan, where they’re also looking for potential markers that there could be chromosomal abnormalities as well during that anatomy scan that potentially needs to go towards more diagnostic testing.
Again, because those two tests, the quad screen, and your anatomy scan are just screening, and you may need to do more diagnostic testing afterward. It is important to know whether or not you’re one.
Your insurance may not cover all genetic screenings for your baby, so knowing which genetic screening tests are covered can be helpful before going into your pregnancy to know which ones will even want to say yes or no to based on your coverage. But it can also be helpful to know which ones you are potentially even interested in because some people don’t choose to get genetic screening at all during their pregnancy, and some do choose to get that genetic screening done to be able to make a decision, one, if they will continue with the pregnancy or two where they’re going to deliver during their pregnancy.
Gina's Experience with Genetic Screening
During my first pregnancy in the third trimester, I was offered a more intensive genetic screening test because my baby was potentially measuring small. And they said that sometimes measuring really small could be linked to a genetic disorder, but the test was not covered by my insurance. And then I decided to have a more in-depth conversation with the provider on the benefits of taking this test and why they would recommend me taking it.
So the first thing that they said is genetic screening can help you make a decision about your pregnancy. Like how do you want your prenatal care to continue and then to it can help you choose the best birth location for you. So if baby does need a lot of support after birth, like you’re anticipating a big NICU stay or they need some immediate surgeries, you can ensure that the specialist that your baby needs is there at their birth or readily available, or you’re in a facility that can support the high needs of that baby.
And so, if I knew that my baby was going to need a lot of support after birth, like I’m not going to give birth at home, for example, I’m going to ensure that I’m in a facility that has a level of care to meet the needs of my baby. And so those are really two big things that they were saying.
It could influence your prenatal care and it could also influence where you give birth. And so that I was like, okay, those seem like really good things. Like what is the likelihood that this is linked to a genetic disorder that you would then recommend me still do this testing? And the likelihood was pretty small. She was measuring small most likely just because I was a small person.
And so, then I started having conversations. I’m like, okay, well what other testing could we do before we jump to this screening? Because I still got a few months before I give birth. Anyways, what are some other tests that we can do to either confirm or like help us understand whether or not this is linked to a genetic issue that are covered by my insurance?
And so we kind of explore different options, like doing other ultrasounds, like continuing to follow baby’s trend. And then again, it’s just found out that we had the wrong due date and that’s why baby was measuring small. So, then we opted to not do that test. But those are the types of questions that I was asking my provider when they were recommending a test that was not covered by my insurance to help me make a decision on whether or not I thought that this test would be worth me investing in potentially to influence my prenatal care.
Questions to Ask About Genetic Screening:
- What information will this genetic screening tell us that could influence my prenatal care and birth location choice?
- How accurate is this screening?
- Is this test covered by my insurance or will I pay out of pocket?
- Are there other tests we can do prior to this test to help us determine if this test is necessary?
- Do I feel informed to make a decision on whether or not we will do this genetic screening?
Roxanne's Experience with Genetic Testing
And then also where I was giving birth. So during my first pregnancy, I did get all of the genetic screening that was recommended, one of them being spinal muscular atrophy genetic testing to see if we were carriers or not in my testing did come back that I was a carrier. And this was concerning to me because this is not something that I had ever had on my radar.
Like, we don’t really have like a family history of this at all. So it kind of came out of nowhere. And my husband was deployed at the time. So normally if you come back positive as a carrier, they want to then test your spouse or your partner to see if they are also carriers of these genetic disorders because that increases the likelihood that baby can develop it.
And my husband was deployed at the time, so he could not just go to, you know, a random lab and get this test drawn and get the results until he returned home. And he did not return home until three weeks before the baby was born. So we didn’t actually get the results back of his genetic screening until after the baby was already born.
He was not a carrier, so it all worked out fine. But this was a bit concerning for me because I had not expected it at all during my pregnancy, cause all of our other genetic screenings came back negative and then this one came back positive for her being a carrier. And it kind of caused a lot of anxiety.
For my future pregnancies, I did not do as much genetic screening because I did get so anxious during that first one after the results, it would not have changed anything that I did because we were already giving birth at a hospital that was pretty high level of care. It just caused me more anxiety than anything.
And so, during their pregnancy, you can be offered a lot of different genetic screening, some may be included with your insurance, and some may not. And so having a conversation with your provider on the benefits of a genetic screening, whether or not it’s included with your insurance would be good questions.
How will that influence your care? Depending on the results of the test? Do you care that it would influence your care at all? And then like, how is it going to mentally make you feel like are you going to sit and be super anxious about the results of the test that it could affect how you are mentally navigating your pregnancy?
And so there are a lot of things to consider with genetic testing and would be tons of great questions to be discussing with your provider.
Becca's High-Risk Pregnancy and Birth Story with a Trisomy 21 Diagnosis
Becca will be sharing her birth story with her daughter, Vivian, who had a Trisomy 21 diagnosis during her pregnancy, which is more commonly known as Down’s syndrome.
How is your pregnancy and your preparation for birth?
Rebecca: I prepped for this pregnancy for about six months before we tried to conceive, and I got pregnant pretty much right away and I was 23 years old, went really well overall to start, I was a little bit tired, a little bit nauseous during the second trimester, but nothing too crazy.
At 12 weeks we opted to do the NIPT prenatal testing specifically because we wanted to find out the gender early and I will never forget the day that my doctor called me and told me that this test came back high for having Trisomy 21 or for having Down’s syndrome when he said high, I was like, “what do you mean by high?” But I guess there’s a 95% chance that my baby was going to have Down syndrome. So that was definitely a life-changing call. But also changed the trajectory of how I was planning to give birth. So after we had the diagnosis, I wasn’t able to give birth in a birth center anymore and had to transfer to a hospital.
So, it changed my plans a little bit as I tried to navigate how I was going to do that. And I really wanted to have a [unmedicated] birth if possible. It really kind of shattered my expectations of what birth could look like, but I had to rebuild and try to figure out what I could do. Even still with the diagnosis and with the high-risk things that can be associated with Trisomy 21, every situation is different and so we were monitored for it throughout.
But I was still hopeful that I could have the birth that I was hoping for from the beginning.
How did your plans change with your prenatal diagnosis of Trisomy 21? And can you explain to our listeners what that is?
Rebecca: Down’s Syndrome, or Trisomy 21 is named after the person who discovered it, whose last name was Down. And it’s a genetic chromosomal disorder where a person has an extra copy of the 21st chromosome. And it occurs at the moment of conception, and it happens in one in 700 people. And there are a variety of physical and developmental disabilities that occur, but it varies from person to person.
Gina: Were there any specific complications during your pregnancy that your provider was concerned about with this diagnosis?
Rebecca: So after we had the test come back as high, I had additional ultrasounds with the perinatal allergist and they checked for 11 different markers of Down syndrome, which can kind of confirm without doing an invasive study the diagnosis. So they monitored me that way and saw there were some soft markers, but nothing that would put me or the baby at risk.
But then by 28 weeks, I was showing signs of polyhydramnios, or excessive amniotic fluid, and so it was continued to be monitored for that throughout the rest of my pregnancy.
Gina: So tell us about the end of your pregnancy.
Rebecca: I continue to feel really good through the end of my pregnancy, but emotionally it became very taxing to go to the appointments and just to check up on baby. More information was not settling, it created more worry for me, but I was being seen by the perinatal allergist every 6 to 8 weeks and then on top of my regular OB appointments.
My blood pressure at home was always normal. I checked it a couple of times a day, but whenever I would go into the office I would get really nervous and it would shoot up.
And so towards the end, they were in addition to monitoring the polyhydramnios, they were toying around with the idea of watching me for preeclampsia. And because of the size that baby was measuring, they were interested in doing an induction at 38 or 39 weeks because of those factors and the increased risk of stillbirth with Trisomy 21.
But I really wanted to avoid that intervention if possible. And so I’m very thankful that at 37 and three, my water broke at home on my own.
How was your birth?
Rebecca: So I awoke to a trickle of water and I thought to myself that I really didn’t think I peed. So I went to check and I continued to leak a little bit. It was about midnight and so I just thought, okay, I will finish packing my bag for the hospital and then I’m going to go rest because I did have a dude who had trained us a little bit on how we wanted to proceed, and she had recommended that I rest as much as I can during early labor and I knew that it could be a long time.
So I continued to rest and at about 3 a.m. couldn’t do it anymore. It was too uncomfortable. So I, I got up and just labored on my couch a little bit and continued to feel contractions, but knew that I just wanted to be at home as long as I could. Then I had a very big gush of water, and by then I needed my husband’s help to help me clean up.
And I was getting more uncomfortable. And so I labored on the toilet for a while. And then he encouraged me to lie down again and to just relax and breathe through the contractions. And then by then my doula had come to our house and I was just observing the situation. My husband was supporting me and helping me relax through the contractions as he was preparing himself to go to the hospital.
Eventually, I threw up the avocado toast that I had eaten a couple of hours prior, and so I looked at my doula and said, “Does this mean that I need to go to the hospital?” And she said, “I think you should call.” And so I called her and my husband called and they recommended that I come to the hospital.
So we had to drive. It was is actually only about 20 minutes. It was a Sunday morning with no traffic in L.A. So I was very thankful for that. But we had to drive separately because my husband had to get a negative COVID test in order to be entered into the hospital unless labor was imminent. And so we didn’t know what they were going to say.
So we had to be prepared for either situation. So I rode with my doula to the hospital and my husband drove separately and that was the most stressful. One of the most stressful aspects was just being separated from him. I wasn’t comfortable with that. But we got to the hospital and the person wheeled me to triage and I was not sitting in the wheelchair in a pleasant manner.
I was not answering their questions very nicely. I was very imminent in labor. And so the nurse had mercy on me and just let me have her room instead of getting checked in to triage. And so when they did check me, I was eight centimeters. After a little bit of coaxing from the security guard at the hospital front entrance, my husband was allowed in to join me and my doula in the room.
Then I had put in my birth preferences that I wanted to be able to move around and I didn’t want monitoring or to have bluetooth monitoring or something. But at that point I was pretty comfortable, just as comfortable as I could be. I preferred actually to just be in bed. And so I was on my side breathing, relaxing through contractions, but just wanted to be left alone.
Then I think about an hour later they checked me again and I was at ten centimeters. And so they said I could push and I didn’t have an initial urge to push. And so I just continued to labor through the contractions. But then eventually I thought I should give it a try. I didn’t have like the fetal ejection reflex, but give it a try and push on my side for about an hour actually.
And her head was present like I think within 30 minutes of me pushing, but I just couldn’t really get her further, I guess get her to go down further. And so after some time had passed, my doula recommended that I get in a squat position and I had said that I was interested in doing that. But I think just in the moment I was a little bit afraid of, of getting in the squat position and then getting stuck there or tiring out.
It was just hard to move. So it took a lot of courage to move and to get into a different position within 45 minutes, either within 30 or 45 minutes of doing that. I did squat her out and pushing was very that was the only moment that felt outside of my comfort zone during the whole process. It took a lot of might but the relief of having her here being able to take her to my chest and having my husband catch her, and taking her to my tests, just all of those months of scary doctor appointments and things that we just didn’t know if it would be possible then to have her and to have the birth that I was dreaming of, to have it actually happen was just such a blessing and just the best feeling. But then after I delivered, I did lose a little bit of extra blood. And so that my doctor had after my placenta came quickly.
But then afterward, I was still losing some blood. And so he recommended that I get some Pitocin shot in my thigh. So, we did end up doing that and I was able to hold her for a while, but then they wanted to check her under the lights, just given she actually needed a little bit of help breathing.
By that time I was feeling really weak from losing that extra blood. So we got to hang out in the delivery room for a little bit extra longer because they were monitoring baby. But because I was just really low in energy and lightheaded and things like that.
Vivian needed a little bit of extra support like I said, and they kept a nurse with us in the room with her and she was hooked up to the monitors.
They kept her in the room with us through that nurse’s whole shift. So for like 12 hours before they decided that they needed to take them into the NICU. I’m thankful that they gave her as much time as they could before they decided that it would be better for her to be monitored more closely.
Gina: How was navigating the NICU the length of time that your baby was in there?
Rebecca: Navigating the NICU would have been easier if it wasn’t during COVID and our NICU was under construction and so there wasn’t a place for us to stay with her. Once I was discharged from the hospital, we had to both have a negative test every day in order to see her. And so that just made an extra barrier, an extra challenge in order to be able to be with her, which got old pretty quickly.
We were thankful for the care that we got and really she just needed time for her lungs to get stronger and to have full oxygenation or without needing oxygen support at home. And it gave us time to recover a little bit for me to gain my energy back and we were ready to receive her when we could go home.
Definitely still needed the support of others during that time with meals and laundry, help with laundry and pumping through the night. But you do what you have to do.
Gina: Do you have any advice for other NICU parents, especially if baby's going to be staying in the NICU after you've been discharged?
Rebecca: For parents, I advise you to ask lots of questions for your nurses and and let them know your preferences as much as you can. For example, we ask that Vivian not get a bath after birth, which is normal, but then like a couple of days later we came in and she was bathed and it was fine, but I missed it and I just wish that I could have been there.
So letting them know your preferences and hopefully they can help you out. But if you’re supporting someone that you know who is who has a baby in the NICU definitely meals are helpful or things like that. But even something like fresh flowers to be delivered to their house, not the hospital because you can’t have flowers at the hospital.
But when you’re at home and you’re there without your baby, it just is helpful to have something beautiful to look at. I also recommend either cafeteria gift cards or coffee gift cards because chances are you’re probably tired and need some a pick me up.
Roxanne: I do love the flower idea because going home is supposed to be this exciting moment. You’re bringing your baby home to the like where you’re going to raise them. And when you don’t get to go home with your baby because your baby’s in the NICU sometimes it can be really sad.
So having flowers there, that is something to like. See, that’s beautiful to like help uplift the mood a little bit. I feel like that’s really, really nice.
What are things that you feel like contributed towards a positive experience for both your pregnancy and your birth?
Rebecca: So my number one recommendation is to have a provider that you can trust and bring all of your questions to. Even with with the diagnosis, I feel like it can be challenging to have a positive either, you know, prenatal experience or or birth experience. I’ve never actually personally heard a positive birth experience with having a prenatal diagnosis of Down syndrome, which is why I want to share my story, because it it was overall, especially the birth was a positive experience.
It’s an emotional roller coaster. Being pregnant in general is an emotional roller coaster, and having scary unknowns of a diagnosis can feel really overwhelming. There are just so many more unknowns, perhaps, or at least it feels like it because you’re getting maybe a list of what your child will be like. Whereas in most experiences, you get your child and you figured them out.
From there, you don’t get a list of the challenges you’re going to expect in parenthood. So that makes it a little bit different where you might have to like prematurely grieve what you thought your birth and parenting experience might be like. But that doesn’t mean that it is a bad thing. It’s just it’s just different and not the normal experience.
You will learn from it and you will grow from it. I think if you have birth preferences and even if you’re high risk doing your research and figuring out who you can trust and who’s on your team versus who just sees your diagnosis or sees the risks of things. I didn’t mention this, but I did end up switching providers in part because we moved and in part because I rushed out of the hospital that I was looking for.
At first, I looked for somebody who would still support a [unmedicated] birth, even with having a more complicated history. And, I came in with my binder of information and plopped it on his desk and asked for his help. And he did follow through with what he said he would do. And I’m very thankful for that.
But having a specific set of birth preferences, I took a sheet of paper and had to review our preferences. And we talked exactly through it. And I brought the same one to the hospital. And so the nurses can see it even at the top of said known Trisomy 21 diagnosis. Please be positive and had my birth preferences and I think that that also helped contribute to a positive experience as well as having my husband who knew exactly what I wanted and having the doer, who knew exactly what I wanted.
Gina: What advice do you have for others that may be in a similar situation as you either navigating a diagnosis during pregnancy, preparing for their birth, or maybe they've already had their baby and they're starting the journey of parenthood?
Rebecca: I would recommend that you do your research, but also, you know, be careful who you’re getting your research from or who is speaking into into that experience. You know, when you Google something scary, it’s not usually the best place to go for information. I found a lot of joy in looking at accounts on Instagram from other families who had gone through something similar.
But I would just recommend that if you if you have specific preferences that you you see if it can be possible to be done with people who can support you through it, Lord willing, you will get to your end of your pregnancy and you will meet your baby and you will learn about them and all that they have to offer to the world.
And it’ll be worth it, even when it’s scary and even when it’s hard.
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