I was 12 weeks and 6 days. Had my first trimester screen ultrasound- more as a formality than anything else. I knew we were testing for risks of Down Syndrome and other trisomies. I was mostly worried about the other trisomies and the risk of stillbirth associated with them, though I was still technically “young” and had no risk factors. This would be my last marker of the first trimester- it was going to tell me everything was fine, so I could be a little more open about the pregnancy. Tell work. Tell friends. I had told my family earlier that week, because I was lucky enough to see them almost all together- rare since they live in California and Massachusetts.
The sonographer was having trouble getting a good image of the neck fold- the nuchal translucency. I have since learned that often is code for “something’s wrong.” And they bring in the doctor. You would think I would know that, being in the field, but I was happily oblivious looking at my moving baby who finally looked like an actual baby. The doctor told us they were concerned because the nuchal translucency was thick. I asked what my numbers were- I had bloodwork done ahead of time so they could calculate the numerical risk. The measurement was so thick, it was off the charts- a whole new set of numbers was given to me. 1/5- chance of chromosomal abnormality, 1/10- chance of normal chromosomes but other major birth defect. 3%- chance of stillbirth/loss even if everything else is normal. Do the math and that’s a 1/3 chance of something. I’m used to seeing 1/200 as an abnormal result, so to me, 1/3 meant something was going on.
Our options for further testing were blood test with 99% accuracy. Or CVS with essentially 100%. Blood test takes 1 week. CVS takes as little as 2 days for preliminary results. Blood test is accurate for trisomy 21 and 18, less accurate for trisomy 13. CVS can test for other genetic issues, like Noonan’s syndrome or SMA, if chromosomes were normal. I never thought I’d opt for invasive testing. But I also never thought I’d have abnormal testing. We opted for certainty. I’m a need to know kind of person and my husband thinks the more info the better. And the 1/3 chance seemed a lot higher to me than the 1/400 chance of miscarriage.
We did the CVS the next morning. I had to take the day off work- which meant I had to announce to a few important work people that I was pregnant and that I had pretty abnormal testing. Not the way I had envisioned announcing my pregnancy. I arrived with a full bladder, as instructed. I asked the sonographer if anyone ever peed on the exam table- because I follow directions well and filled that bladder to the brim. She said no one had yet- which made me think I was going to be the first! She also had me empty my bladder after one look at it under ultrasound. It took 3 attempts to get it down to size. I apparently have an amazing bladder! The CVS hurt. They numb the skin- so I don’t feel the needle go into the belly, but when that needle hits the uterus- ouch! It took less than a minute, but I knew the whole time it was in my womb. I was trying not to breath so I wouldn’t move, so the needle would stay exactly where it needed to be.
I was instructed to take it easy over the weekend. I bailed on the triathalon I had signed up for the next day. I went to watch and cheer, thinking the whole time about the hole in my uterus- willing it to heal. I said “stay baby stay” over and over again silently in my head. I sat on the couch and waited for Monday and my future to come.