NIPT Blood Test & Ultrasound...Or So I Thought

I can’t believe I had to work on a day like today. How in the hell I focused on teaching 3 play and learn classes is beyond me. But, I did…I worked from 8:30a until 12p. After I was done with work, I got myself dressed in street clothes. I wore jeans, a pink thermal shirt with a white tank top, grey slouch boots, and a white bow in my hair. It was up, in sort of a bun/pony kinda style. Once I got dressed and left work, I had time on my hands. I was supposed to meet Alberto at Mother Joseph Plaza, so, I had time to spare. Instead of driving to the doctor’s office and sitting in the parking lot alone, I decided to go shopping. 

This was weird for me, as I am not really the shopping kind. But, the Streets of Tanasbourne (an outdoor shopping mall) is very close to work, so, I decided to head over that way. I ended up going into H&M and thought I might buy some long sleeved shirts for Isla. I had been saying for a while she needed new shirts, so, I thought this was the perfect opportunity to buy her some. Once I got into the store, fumbling through the clothes and picturing them on Isla sort of got my mind off of things. I told Alberto (via text message) that I was shopping, thinking he might tell me not to spend too much money. But, he didn’t. Why I thought that is beyond me, since he never gives me budgets and pretty much lets me buy whatever I need to buy for Isla. ‘Cause she’s got him wrapped around his little finger. Anyway, I found lots of cute things for her. She’s obsessed with Ariel of the Little Mermaid right now, so, I found a really cute Little Mermaid sweater for her. It has Ariel and Flounder smack dab in the middle of the ocean scene and the sweater itself is a deep, rich navy blue. I had to get it for her because the moment I saw it, I knew she’d go bananas over it. I also bought her an adorable jean jacket. She’s has a white one for quite some time, but, I’ve always wanted her to have a light jeaned colored one. So, I got that for her as well as a few other things. $92 dollars later, I decided I’d better get myself on the road and stop burning a hole in my and Alberto’s pocket. Not before I decided to stop at Jack n the Box though. I was starving because I hadn’t really eaten much, so, I bought a small cheeseburger, a small fry, and a medium sized Sprite. Now that I’d shopped and grabbed a bite to eat, I really needed to get my butt on the road and make my way to the perinatology clinic at Kaiser’s Mother Joseph Plaza campus.

Parking was an ordeal, to say the least. This place is huge and I hadn’t been there before. Alberto beat me there and had already parked, so, he called me trying to help me park near him in the name garage. Fail. I was frustrated and yelled at him over the phone and hung up. I eventually found a place to park, took the elevator down to the ground level, and started to walk towards a building. Was it the right one? I had no idea, so, I called Alberto back. I apologized for yelling at him and then I noticed I was actually walking towards him while we were on the phone. Thank goodness we found each other because we were late at this point and we needed to hustle.

Finally, we made it to the perinatology dept. This place was deserted (it seemed). I guess they were moving, so, that’s why. But, I immediately felt weird in this place. After dealing with co-pays and such, the nurse called us back. They took my weight (Fuck…already 171lbs – although, that’s slightly inaccurate since I’d just eaten a cheeseburger, fries, and guzzled a medium sprite!), measured my height, and then we were taken to an exam room. There was a post-it note on the door with the initials JD…my initials. When we walked in I thought “hhhmmm, this is odd”, because this exam room looked sort of like an OR. It had a bed and all this equipment and those huge lights hanging from the ceiling. Not that I didn’t feel it before, but, things all of a sudden felt really serious.

The ultrasound tech came in and explained that we were going to start our appointment off with an ultrasound. This is what I’d expected, so, I was ready…I really wanted to see our baby again. Because I am 11.5 weeks at this point, we didn’t have to do a vaginal ultrasound. So, I just took off my shoes, laid on the table, unzipped my pants and strategically placed them below my bikini line. The tech tucked a towel under my folded down jeans and flipped it over the top, so that we wouldn’t get any of the gel from the ultrasound wand on my clothes (I appreciated that). Then, she started to look around and almost immediately, she said “there’s baby’s heart, beating away” and I was elated and so relieved. Why, you ask? Well, I was so scared after getting the daunting results of the first trimester screening…not to mention, the genetic counselor said that the levels of protein in my blood were so low, that, it meant either the baby wasn’t the gestation we’d initially thought it was (which is why we were doing the ultrasound today – to confirm the gestation and make sure everything looked good), or, that I was going to miscarry at some point. I had it in my head that if the baby had a heartbeat that we were going to be just fine. So, as soon as we knew that the heartbeat was there and was strong (it was around 150bpm), I felt relieved and I cried tears of relief and joy. As I watched baby gently moving around on the screen, the ultrasound tech continued to look at baby…taking measurements, looking at different angels. And then she said that she was seeing something called a cystic hygroma. She showed us on the screen what it was, and, it looked like a little halo surrounding our baby’s neck and some of the head. She said that it was fluid that is typically there and decreases as gestation progresses. She explained that at this gestation, a normal measurement for this pocket would be about 1.5 to 2cm. Our baby’s was measuring at 5cm…twice the normal size. Obviously, this wasn’t a good thing. So, my tears of joy and relief turned to tears of terror and uncertainty. The tech said that she was going to send these images to the doctor (and that the genetic counselor would explain what it meant) and that she would be right back. I remember Alberto hugging me tight and my hot, wet tears staining his shirt. I was already devastated, and, I just felt completely deflated. The next thing I knew, we were being taken to Pat, the genetic counselors office (we'd spoken before - she as the genetic counselor I'd mentioned in this post).

When we arrived at her office, Pat was waiting for us with a look of concern and compassion on her face. I’m sure she had been through this many times before and has had the talk she was about to have with us many times before. We sat down and she started off very slow, sort of asking us how we were holding up and expressing her sadness for us, because, what we’re going through and will continue to go through is very difficult. She asked us some questions about our family history and both Alberto and I tried to answer her questions to the best of our ability. But, some things we didn’t know and some things we weren’t sure on. She understood and wrote down what she could. Then she began with the business of why we were in her office; to talk about what we saw on the ultrasound. This is when I began to cry, again. She spoke with us about the cystic hygroma, she told us what it is (the same as what the tech said) and what it typically means. She said that most babies with cystic hygromas have some sort of chromosomal abnormality. Conditions like Turners syndrome, T18, T13 and Down’s syndrome are the most common ones associated with a hygroma. She went into detail about each of those conditions (I won’t here) and what they mean for the life of a child who has one of them. Next she started to talk to us about how these chromosomal abnormalities happen. She started to talk about the biology of this all, and, this is when I started to have an out of body experience. See…I know all too well about the biological aspect of aneuploidy. I had learned about this one semester ago in Biology 233 (Anatomy and Physiology). All of the syndromes she was discussing with us are as a result of aneuploidy, which, is a big word for when there is an absence of a chromosome or an extra copy of a chromosome. She didn’t have to explain what a karyotype to me was, because, I know exactly what it is. Similarly, I didn’t need her to explain to me about how cells divide via meiosis and that when T18 or Down syndrome occurs it’s due to an error in the division of cells during meiosis. I knew ALL of this already. So, I sort of floated away…up above myself and I watched as Pat explained these things to Alberto, as she showed him photos of karyotypes and what it looks like when a karyotype is normal versus when it the karyotype of an individual with aneuploidy. All I can remember is thinking “how can this be happening to me? How can I be listening to this lady explain these things to me? Why is this happening to me?” How cruel it felt to me to be listening to this lady tell me things I already knew about, but, now they are all the more real because they apply to me and the child I am carrying inside my womb. 

At some point, she started talking to us about how we could proceed. What we could do from this point to find out if our child has a chromosomal abnormality or not. As I’ve previously mentioned, we had a few options: do nothing and continue on with the pregnancy (this was NOT an option to us), proceed with a CVS (which could be done today), or, wait for the 16^th week of my pregnancy to have an amniocentesis done. Pat explained to us that because the cystic hygroma was found, it wouldn’t be advisable at this point to go through with the NIPT (blood test) we had planned to do today. We agreed, but, needed some time to process everything and talk through things alone. So, we asked Pat to leave the room so we could be alone.

As soon as she left, both Alberto and I broke down. We were overcome with emotion, because, it felt like the prognosis for our child was grim, at best. Because no matter what we decided, our child had something wrong…for the cystic hygroma was there and twice the size that this fluid filled pocket should be. We cried in each other’s arms for a while and then, we talked. We weighed all the options, and as we have been since the second we found out about my blood work...we were on the same page about how we wanted to proceed. We decided not to wait and to move forward with the CVS that day. We called Pat back into her office, told her our decision, and she got the ball rolling on the procedure.

Once back in the exam room, I undressed completely from the waist down. I sat on the table and felt scared and unsure. Unsure because I knew there would be an ultrasound happening during the procedure and I wasn’t sure if I wanted to see our baby again. The procedure itself is similar to a pap smear in that it is done vaginally (sometimes transabdominally), but instead of swabbing your vaginal canal to get samples of tissue from your vagina, a thin tube is guided through the vaginal canal and through the cervix to remove a sample of chorionic villus cells from the placenta. This is a drawing of what it looks like:

An ultrasound is done simultaneously to help the doctor guide the catheter up through the vaginal canal and through the cervix. How long the procedure takes is dependent upon how easy (or not) it is for the doctor to get to the placenta and whether or not they get the size sample they need in one pass.

I will not go into details about my procedure, but, I will say it was extremely uncomfortable and downright painful at times. You feel pressure from the speculum (which they move around at times to help the process of guiding the catheter to the placenta) and you feel pressure from the ultrasound wand. Not to mention they have you drink water before hand to fill up your bladder and help position your uterus, making it easier to access the placenta. I kept my composure through most of the exam, but, I couldn’t help but cry at times…because of the pain, because I just wanted my baby to be okay, and because I really wanted to be done. It took a while to get the first sample (an additional doctor was called in to help and I also had to go to the bathroom at one point to release some urine and help reposition my uterus), and then just to be sure, the doctors did a second pass to get more than enough tissue for the lab. It was an extremely emotional experience, and, I was ready to go home and see my beautiful and healthy daughter (Isla) when they were done.

Alberto had to go to school that evening, so, we said our goodbyes in the parking garage and off I went to pick up Isla. On the way to get her I called my mom, looking for support. She gave it to me, amongst other things. I just couldn’t wait to get to Isla…to hug her, to kiss her, and to just be with her. Because she is a reminder that although we are going through a terribly scary and difficult situation, we have her. We can conceive a healthy child. A beautiful, healthy, smart, and witty child.

Because I had to take it easy for the first 24 hours after the procedure, Isla and I went and bought “The Jungle Book” and ordered pizza for dinner. Luckily, Alberto was able to come home before it was time to put Isla down for bed. When that time came, we both kissed and hugged our big baby tight, and, then we let her sleep.