Intro

Hi everyone! My name is Stephanie, and this is my pregnancy experience that led to a triploidy diagnosis, and our termination at 20 weeks pregnant.

I wanted to write this blog as a reflection on all my husband and I went through during this turbulent pregnancy. Through the painful journey, I found that reading similar stories written by women were sometimes comforting, but sometimes also made me feel a little less strong, or a little more alienated. I wanted to write out my experiences for my benefit, and also to hopefully give women one more voice to identify with. I was raised Catholic, but I don't really consider myself a person of a definitive faith. I feel that is a major source of alienation for me as I read other women's experiences and how heavy they relied on their faith to get them through.

I also had a lot of internal struggles with termination. I went to Catholic school, and I remember going to an anti-abortion prayer service in 8th grade with a few other girls, as part of a retreat requirement. We were surrounded with pro-life propaganda, saw pictures of aborted fetuses, and were sent home with pamphlets and bumper stickers. I can't even use that word abortion in this experience. I do understand the pro-life position, but there is a ton of couples out there that may not have the choice, due to medical reasons affecting the baby, or the mother, or both, like I experienced. I feel like this is widely unrecognized, since I never even thought about it as a possibility. I was lucky enough to be close to a hospital that would perform the procedure. Some women have to travel hundreds of miles to receive this care, and some hospitals may not perform it because of Catholic affiliation. Some women have to travel to other states because they’re past the window their state legally allows pregnancy terminations. Some women don’t have insurance to cover such procedures and care. This is scary, especially when you think about all the issues coming against places like Planned Parenthood. I guess I just want to emphasize that terminations aren’t just for unwanted pregnancies, sometimes they are necessary to save the life of someone you love. 

I'm writing this blog in parts, trying to remember the experience as it happened. I wish I had blogged about it along the way, but I was expecting a very non-eventful pregnancy, as all women probably do! I wanted to write it for myself, but I hope it can help give a perspective to anyone in a similar situation, you aren't alone. xoxo

I have strong respect for everyone and their beliefs, and I just ask the same from you.

And so it begins!

Trying to get pregnant wasn't a major decision for us just yet. We were just sort of like "Let's just see what happens!" It was a crazy time for it to happen, since we were in the process of selling and buying a house, and stress was everywhere. I figured it would take awhile until I was actually pregnant.

But life happens when you're making other plans, doesn't it? I took about 3 pregnancy tests, but wasn't convinced. I wanted a bit longer, took another one that yielded much more visible results. I showed Matt, and he wasn't convinced (I don't think I still was either... I should be puking all the time, right??).

I hear the "pink dye" tests are the best, guys.  (March 11, 2015)

So we made an appointment with my new doctor, two days after we moved into our new house. I expected an ultrasound with someone circling an embryo and saying "You are DEF pregnant!!" or even just some kind of test to prove it. Nope. My doctor asked "Did you take a pregnancy test?" I said yes, and she said, well then you are pregnant, lady. That's all we would do.


Still wasn't super convinced, but we started telling people anyway. Not until April 22nd, when we had our first ultrasound. I swore I would walk in and they would find nothing at all. But Matt and I went in, and there she was! There really was a freaking baby in there! It even looked like she was waving at us. It was exciting and scary. We left with our first baby pictures that day. I said goodbye to beer, sushi, wine and all the good stuff for good, and geared up to be a mom. Yikes.

First Trimester Sequential Screening

At the end of this first ultrasound visit, they set you up for your next ultrasound / blood test, which is a screening for possible issues. They do this in the first trimester, around 13 weeks I think.

1. Sequential Screening is a way to estimate the chance that a baby will be born with Down syndrome, trisomy 18, or an open neural tube defect such as spina bifida. It combines measurements from two blood tests and a first trimester ultrasound, along with other details about you, to give you a more specific risk.

First off, I want everyone to know that this test is optional. I didn't know this, I thought it was all just part of the pregnancy monitoring. My thoughts on this screening test varied drastically throughout the course of the pregnancy, and you'll see why later. 

I went to this ultrasound by myself on May 2nd, since Matt was at the previous ultrasound, and I didn't expect anything crazy to come out of it. They did realize that my first estimated due date was off by a bit, which I already knew based on my crazy 45 day cycle. So my due date went from October 30th to November 13th. 

Everything else was pretty uneventful, although the tech did mention something about the baby's size, and some number and how it was close to being in the normal range. So I didn't think twice about it. 

This will always be my favorite picture of her, she looks like she's playing guitar <3

About 2 days later, I got a call from the testing center at Riddle Perinatal. They left me a voicemail telling me they wanted to discuss results of a test I had gotten a few days ago. My heart dropped. I remember this day so well because I called that number back so many times, and kept getting their voicemail. I was texting Matt like an insane person. He almost walked to the center downtown to demand that someone call me back.

That was a long 2 hours. Finally, someone did call me back. They told me these words exactly – that I tested positive for Down Syndrome.

I want to go back and emphasize that is test is a SCREENING. It’s not a diagnostic test, and it’s not definite. It’s about 85% effective, and can be altered by many factors. For instance, it can be skewed by having the wrong due date (which they originally did). 

I really wish that woman would have worded this differently, knowing what I know now. I asked her for specifics, and she told me that for a woman of my age, the odds of having a baby with Down Syndrome are about 1/300. Due to different factors, like the ultrasound nuchal translucency that they measure, and my HGC level being very high, that raises my risk to being 1/12. So that's a bit scary. They scheduled me to speak with a genetic counselor two days later, who could give me more information and options.

Genetic Counseling

Disclaimer - All of these are purely from memory, I may not be dead on with some of the facts on these tests, so check with your doctor!

 Two days later, on May 15, I had a phone / webinar meeting with my genetic counselor. Her name is Stephanie, and we would eventually become fast friends. (Not really, but she was really great and I'm so thankful for her!)

She sat with me and walked me through all the sequential screening in detail, explaining all the tests. A baby with Down Syndrome usually has the same warning signs that they found with me (high HGC, etc) so that's why my risk was higher. 1/12 can also translate to having a less than 1% chance which sounds way better!

Since this screening was exactly that, a screening, she gave me some next steps that I could pursue for a more definitive answer.

• There's a CVS test, which is more diagnostic, but I was past that point in the pregnancy to do that.
• There's also the cell free DNA test / NIPT test / MaterniT21 test, which is also just a screening, but is much more accurate at detecting the presence of Trisonomy 21, another word for Down Syndrome. This is actually the standard for women over 35, I guess because it's much more common to be high risk as you get closer to 40. Bonus - you get to find out the sex early!
• Going from there is the Amniocentesis, which is the mother of diagnostic testing in pregnancy. They can only do this around 16-18 weeks along, and they stick a big needle in your abdomen and draw out the amniotic fluid. They put the cells in a petri dish and let them grow, then check them for abnormalities. I know a lot of women decline this test because there are risks of miscarriage, it seems to be a controversial topic, which is interesting. 

I had some time to think about this, and what I wanted to do next. I also remember that this was the point when terminating the pregnancy started becoming a recommendation. It seemed so surreal to me. I mean, nobody wants a child that struggles, but I think I could really be okay with having a child with down syndrome. It's even a blessing in some cases. There is also such a high demand for adopting children with down syndrome. If that's the hand we're dealt, then so be it! The unfamiliar is scary, but having a baby in general is the unfamiliar for me anyway! 

I've read a ton on the internet about all of this, and this is the point when most women decline all other tests, because they know they are going to love their baby no matter what, and just want to enjoy the rest of their pregnancy. I was beginning to feel that way. If I had never gotten that first trimester screening, would I be this stressed? There are so many stories of screenings coming back high risk, and the baby is just fine! I took great comfort in that. 

The Genetic Counselor then began offering me more blood tests that could detect the risk of other diseases based on my and Matt's cultural backgrounds.

More stress and worry? Ugh, no thank you. 

The NIPT test, and Gestational Hypertension

With the Down Syndrome weighing on my mind for a few days, I really wasn't sure if I wanted further testing. I wanted to be one of those moms that embrace my baby and all the obstacles I might face in the future. Quality of life is important, but I've done so much research on the subject that by this point, I was feeling okay with it. On the other hand, I was also feeling pretty optimistic, since so many women had gotten the same blood test result and their baby was perfectly healthy.

I went to the OB about 4 days after I spoke to the genetic counselor, and talked to her about the results. She mentioned the NIPT (Non-invasive Perinatal Test), and said that if I wanted to, she could do that test right now. She warned me that it was still a screening, but a much more accurate screen for Down Syndrome. It's just a blood test, so I figured why not? The bonus is that we would find out the sex! I think I probably agreed to the test more for that reason anyway.

At this same visit, the nurse noticed my blood pressure was a little high. This was a worry to my OB because it had been totally normal at the previous visits. I've never had high blood pressure myself, but my mom and sister do, so I figured maybe it was just my time. However, since I was in the second trimester, it's a concern... your blood pressure usually drops in the second trimester. I was prescribed Labetatol, which is a blood pressure medicine that slows your heart rate. I also had to start taking my blood pressure at home, to see if the dosage helped. So I began my meds that night.