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Genetic Screening - High Risk...

It's hard to believe I'm already a few weeks into the second trimester. I'm officially in my 17th week. I've been trying to sit back, relax and enjoy the second trimester, because the first was hard. So hard. It wasn't the physical nature of it, but for me it was more mental, and emotional. I have been waiting for that magical time that everyone keeps speaking of, the glow, the bump and the little kicks. I'm still waiting on all of those things, but in the mean time, I'm slowly getting closer.

The first trimester started with a bit of nausea, when I forgot to eat fast enough after waking up. It was filled with naps, naps and more naps, but as I mentioned, the part that was the hardest for me was adjusting to pregnancy after my body had spent so long dodging it. I struggled with anxiety from the day I got a positive pregnancy test, to the day I went for my beta, blood test, then to my second. It didn't really get better, not with ultrasound after ultrasound, my heart wouldn't let it's guard down. At 11 weeks, we finally were released by our specialist. Graduated. With this came some comfort, and the fears of at least a month between appointments, after barely waiting 2 weeks between any steps at the specialist.

Our first prenatal appointment with my general practitioner, who will be delivering our baby, went well. He was just as happy as we were to be 12 weeks pregnant. He gave us hugs, shook our hands to celebrate our return and went through the traditional questions. We asked ours, including what should I avoid eating, his list was a lot shorter than the internet. He advised against Deli meats due to the risk of listeria, unpasteurized cheeses but he did mention most in Canada were pasteurized, and last but not least... Sugar. (That's the only one I've been struggling with.) We got our flu shots, scheduled our first ultrasound with him, and were on our way.

Everything seemed great right? It was, for now.

The ultrasound was easy, pelvic only, finally past the stage of dates with Wanda, (For anyone new year, Wanda is the wand used for trans-vaginal/internal ultrasounds.) Dave was allowed to come in to see the baby on screen for the last few minutes. The minute he came in, the sonographer touched my belly, the ultrasound showed a picture of our very active little boy. (We didn't know he was a boy at the time!) He promptly started doing flips to show off for his dad.

The early first trimester screening and ultrasound look for a few things, the Nuchal Fold (Nuchal Translucency) which is a soft indicator for Down Syndrome. As well as any risk of Neural Tube Defects, issues with growth or the heart. Everything looked good on the ultrasound, so we made our way to the blood lab to have the corresponding blood test done. The blood test looks at a few different hormones in order to determine what your risk, if any for genetic disorders. Of the 5 items tested, I was slightly above or below the norm for each. What this means, without any other testing, they believed I was at an increased risk to have a baby with Down Syndrome. The average for a 31 year old should be about 1 in 700, however my risk was roughly 1 in 130.

It was impossible to know the way I'd react to the result. My doctor called me into his office two days earlier than planned, Monday morning, to discuss my results. He shared with me the news, as I cried listening to what it meant. Well, lets face it, I couldn't listen, I was too busy working through the different scenarios in my head. "What if he does? What if he doesn't? How will we know for sure? What do we do next?" My doctor apologized for being so clinical, he held my hand as I cried and asked my questions, and he, much like me felt the fear, and disappointment after 18 months of trying, my failed IUI and finally going through IVF, not to mention the 3 months of pregnancy. I sit here with tears streaming down my face as I recount the memories. The reason for my disappearance Instagram, Facebook, my friends, and even work. I left the doctors office as we waited for both the NIPT (Non-invasive prenatal testing) and the appointment with the genetic counselor to be confirmed.

I left the doctors office and drove home in tears. I couldn't go back to work, I needed to know more. I needed to figure out more information on an Amniocentesis. If we got the NIPT testing back, I wasn't going to need to see the genetic counselor, but there were no results again or so we thought. Wednesday was my birthday. I tried to go back to work, I needed to get out of the house, and by the time I drove to work, overthought everything I could in the time I spent alone in my car, I knew I made the wrong choice. I had so many coworkers concerned for my well being. I fielded emails, drop-by's and just hugs all morning, they knew nothing, just that I was not well. I really do work with some of the most considerate people, they've been so invested in my IVF journey and my pregnancy. This made it really hard to stay strong throughout the day. To make matters worse, a few hours later, my bosses boss had pulled me aside, wished me a happy birthday, apologized for what I was going through, and told me some bad news, that I was no longer being considered for a promotion within the team. My work day ended there. I went home and waited for our appointment the next day.

As I grew up, I knew a lovely girl with down syndrome, I had friends growing up who had siblings with down syndrome, and others who had extended family members. Children born with down syndrome can live happy lives, they often suffer from heart problems early in their infancy, and do often need support as they grow older. These were all facts our genetic counselor shared with us, many I've had the chance to look up on google by the time we had got to this point. Raising kids is hard, raising kids with a genetic disorder is even more difficult. I have so much respect for those who do. We have a nephew on the Autism spectrum and he's the most wonderful, fun loving boy. It was something to think about. We spoke about the risks of doing an amniocentesis, the fact that it would give us an answer, on risk, but could not predict severity of any genetic disorder. And we also discussed some of the reasons why my NIPT didn't work each of the times we had done it. I felt a bit more comfort in the process, and understood what we were getting into from a testing point of view. This blog post isn't a discussion about what would happen if our baby did test positive for down syndrome, because frankly, we'll never know unless we were faced with that fact, and as a internet reader, your opinion doesn't matter to anyone going through the situation. This post is more about the emotions, the fear, the anxiety that an unexpected complication like this brings to a couple that are expecting their first child. The struggle is real. It has been since the very start of our infertility diagnosis.

We booked our procedure for the morning of Christmas Eve. 8:30 am we were going to have our procedure then head home to entertain family and friends for the evening. I was on strict orders to do as little as possible and for Dave to be at my beck and call. We left the hospital with a small sense of relief, and still a small feeling of uncertainty buried deep down.

We were disappointed our NIPT results didn't come back. This could have eliminated all concerns, but we were told it was no result. The explanation from the genetic counselor, and from the genetics company were aligned, the low fetal fraction (not enough of the baby's DNA in my blood) can be caused by a few things. In some cases, due to the pregnancy being a bit newer than originally expected, this wasn't the case for us with an IVF pregnancy. Sometimes people undergoing IVF can have a lower fetal fraction, the other possibility was due to my body mass index, being a bit higher than ideal.

Our day felt a bit better. We were assured that 129 times out of 130, the result is a false alarm. This helped. As we made our way home, we had a few stops to prepare for our holiday hosting, they were great distractions. As we pulled into our first stop, my phone, which is generally always on silent, started ringing. It was the genetic counselor, and apparently there was a bit of a misunderstanding with my test results. The NIPT we had been waiting on did have a result on the third attempt! She told us that everything looked absolutely perfect and our risk of Down Syndrome was now 1 in 10,000! Finally the relief we were waiting for. I knew if there was a result, the woman on the phone also had the answer to the question we had been waiting for the sex of the baby. As we stood in the store in the middle of casserole dishes and cutlery, we found out our healthy baby was a boy!

It was the happy ending we needed to a less than stellar week. We have a genetically healthy baby coming our way, and that's all we could ask for. It's taken me weeks to sit down in front of my computer to put these feelings into words. I've been trying to share my journey as openly as possible. I think it's important for people to understand there are complications and possible concerns that can come up along the way. In the mean time, I am grateful knowing our baby is healthy and growing as he should be, what feels like against all odds.

Those of you with babies, I hope you hug them extra tight after reading this!

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