Since the very moment we began our TTC journey, we have been on the edge of our seats; really becoming good at playing these “waiting games.” After the results came back, we were just feeling so hopeful and relieved knowing that the most severe scenarios had been ruled out by the genetic screener. Unfortunately, Kyle and I seemed to be the only ones on the planet feeling confident about those results.
My MFM (Maternal Fetal Medicine) appointment, aka high-risk team, was scheduled for the following week where I was 15 weeks pregnant. First, was an appointment with the genetic counselor. I prepared the stack of paperwork beforehand and that’s what the genetic counselor began going over with us. We looked through all limbs of each of our family trees, all health and medical history as far back as we knew, and talked a lot about Kyle’s heart condition and how that could potentially impact our baby. The genetic counselor discussed some different avenues we could go down to look deeper into our genetics and the baby’s chromosomal/genetic makeup.
One thing she talked in great detail about was an amniocentesis. This specific procedure is available during any pregnancy, but also comes with some high risks. I will go into more detail about this procedure at a later date, but at this very moment, it seemed like the one thing I really wanted to avoid because of the risk factors involved. It didn’t seem worth it knowing that Kyle and I both have a pretty healthy, genetic background.
The next day was my other appointment with MFM. I was told I would be having my vitals checked, getting a scan (detailed ultrasound), and meeting one of the doctors we would be working with. Still confident in our test results from the week prior and our conversation with the genetic counselor, I told Kyle to sit this appointment out so he didn’t have to take more time off work. I later came to realize that telling him to sit any of these appointments out and going alone was an incredibly dumb decision…
I got there and immediately had my vitals taken and then was called back to get my scan. Luckily enough, the sonographer was a really close friend of mine who we had lost touch a few years back, but I was pleasantly surprised to be under her care. I knew after this very appointment that her being there was quite honestly a Godsend and I would have been a wreck if she wasn’t the one talking me through everything.
The technology she was using to do my scan was mind-blowing and such an awesome experience to have. As the sonographer scanned, it was looking like Baby K was developing appropriately. I got to see the 4 chambers of her heart working properly and completely enclosed, 2 working kidneys, a developing brain with a clear cerebellum, a full tummy and bladder, a healthy umbilical cord and placenta, a solid nose bone and well-developed palate (which if these are not present, it could be a sign of a chromosomal or genetic condition), and I saw all of her bones including 10 fingers and 10 little toes! It was incredible to see so much when she was just the size of a navel orange!
After checking all of that, the sonographer went to check the back of Baby K’s neck where the fluid was. It made me laugh because everytime she went to scan over the back of her neck, Baby K wedged herself into a little nook in my uterus so you couldn’t see the back of her neck. Almost as if she was trying to hide her only imperfection…or maybe she’s just stubborn like her mama! Once Baby K moved enough to get a good look at her neck, you could really notice the abnormal amount of fluid (which we already knew was back there, but with this technology, you could really see it).
The sonographer finished up and went to read the scan with the doctor. Soon after, the doctor called me in for a consultation and to read the results to me. She explained everything about the baby: the normal development, the organs and bones, the baby’s size…etc. Then, she began talking about the fluid at the back of the neck. Since I was already aware of this and had the results of the screener in the back of my mind, I remember nodding my head and just listening to what she had to say. It didn’t seem like anything that I didn’t already know. She was explaining what they call it in medical terms, “cystic hygroma,” and what that could potentially mean for Baby K’s life and well-being in utero and/or after birth. Honestly, we didn’t expect a “diagnosis,” but it made it seem more real or even more serious than we thought. She gave me some statistics with very low percentages of survival and full-term pregnancy. I just kept nodding my head because I knew all of this was a possibility, but I got those screener results, so I KNEW that couldn’t be the case anymore. I truly wasn’t worried.
Then the doctor looked at me and said “Ok, Angie, I’m not sure you are fully grasping what I am telling you right now, so I’m going to have to be a little bit morbid for a second. In the state of Illinois, termination of a pregnancy is only legal up until 24 weeks gestation. We need to find out if it is safe enough to move forward with this pregnancy.”
Those words. The tone of her voice. The hairs on my arms. My heartbeat pausing. I will never forget those things and that very moment. I broke. I didn’t think it was back to that. I never thought I would have to think that way about MY BABY. Not after what happened last year. I couldn’t bear to think about it.
She asked me if I would be willing to meet with the genetic counselor again to get more information and ask more questions and make a decision about having an amniocentesis. The worry was not only for Baby K’s life, but mine as well at this point. The doctors needed more information to keep the both of us safe and healthy because of these findings. I had never been more scared in my entire life.
Needless to say, I called Kyle out of work to meet me at the hospital to meet with the genetic counselor. Together, we were both a scared mess.
We spoke in more detail about Baby K’s diagnosis with the genetic counselor. She informed us about the various avenues this diagnosis could take us down and how it can be an indication of a genetic or chromosomal syndrome/condition, linked to a congenital heart defect, an issue with the development of the lymphatic system’, or nothing at all and could all go away by 20 weeks gestation. She informed us further about the prenatal screener we had done and explained the difference between a screener and something more diagnostic like chromosomal and genetic testing. We were told that there was about a 3% chance that what Baby K has going on is “nothing,” and will dissipate by week 20. So, our next option was an amniocentesis (which is exactly what I wanted to initially avoid, but at this point, I knew in my gut it was the right move).
Kyle and I moved forward with scheduling our amniocentesis to hopefully get some more answers and prepare ourselves as parents to provide the best, happiest, healthiest life for this little girl of ours! Our amnio was scheduled for that very next week, as early as they can possibly perform an amnio at 16 weeks gestation. Now we had to go home, let it all sink in and await the next step…OH! And try to stay positive and hopeful.