Ugly: Last Thursday, I got a call from the geneticist's office with the results from our first trimester screening. Ugly about sums it up. Based on the transnuchal lucency, bloodwork, and the other variables wrapped into the calculation, we were looking at an elevated risk for Trisomy 21 (Downs- 1:10 risk) as well as for Trisomy 18 (1:87 risk). I had no idea what T18 even was, and after asking wished I never knew. In a nutshell, it's a death sentence for the baby.
To make matters worse, because I was on the verge of 13 weeks, if we intended to do CVS testing, I had to do it either Thursday or Friday. By Monday it would be too late. Many tears and calls to my husband later and we decided to pursue CVS. We had originally intended to avoid invasive testing, but we decided that the risks for trisomy spoke much louder than the risks for miscarriage. I called to schedule the CVS and was given a Friday morning appointment. And I could not stand to wait another three weeks for an amnio.
I obsessed about the call all day on Thursday, even though I had a few meetings and errands to run. I'm actually quite good at putting up a cool exterior when I'm falling apart inside. It can be a very useful skill at times. Other times I think it makes me seem cold to others.
Bad: By Friday morning I had regained my composure and was reminding myself that even though our risks were elevated, the odds were still in our favor. 1:10 for a trisomy is high, but that means 9:10 that everything is fine. "The odds are in our favor" became a personal mantra for the day. I went to the hospital and ended up only being there for two hours- far less than I had anticipated. And I got a long and leisurely tour of the ute and the antics of the little one. I mean, the kid was belly up, belly down, kicking, waving. It was completely calming just to see those images.
I spent the weekend running errands, playing with and reading to Gabe, and working on some crafts that had been set aside for too long. In other words, doing the minimum and allowing time for things that make me happy.
Good: Monday morning I received another call from genetics. I closed my office door, not knowing what I would hear, knowing that in either case I needed to be alone for a minute. Thankfully the counselor's first words were, "I have good news." She proceeded to tell me that all of the chromosomes were in duplicate. I felt relief like I have never felt before. The accuracy of the quick test is 95% or greater, and they will confirm with a longer run that takes two weeks. That's good enough for me. And, she went on to inform me that since they look at the whole chromosome panel, she knew the sex of the baby, and did I want to know? Absolutely.
Gabe is going to have a little sister. Life is grand.