I hope this blog post will help others who find themselves in the anxious hours, days or weeks in between genetic tests and results.
We got married in early February and we’re expecting our first child in late October. In the words of my mother-in-law a few seconds after our family announcement, “THAT”S A JANUARY BABY!” Yes, yes she is! We were very lucky to conceive so quickly, but as soon as we stopped worrying about our fertility, we began worrying about genetic testing.
We discussed genetic testing at a bar back when we were just a carefree couple drinking beer on an unremarkable Tuesday evening. We thought we knew exactly what we'd do if we got certain results. As I'm sure we'll continue to find throughout our parenting journey, once we were actually pregnant and actually awaiting genetic test results, our views quickly became much less resolved. What we thought were no brainer decisions actually seemed impossible. We just hoped we would be in the lucky group of folks who cruise through testing without ever having to think twice. Unfortunately, we weren't.
We voluntarily took the CVS test because we wanted to know about any issues as early as possible and with 100% certainty. More specifically, we wanted to know before we started telling family and friends. After getting an all clear from our NIPT and good FISH results from the CVS, we were ready to celebrate. We had a pact to keep our pregnancy quiet and off the internet, but I was starting to rethink. I didn’t want to just tell our family and close friends anymore, I wanted to shout it out to the world.
A week later and a few hours before we were set to kickoff our big family reveal weekend, however, we learned that a few cells (3) from our CVS sample had shown an extra copy of chromosome two. Our genetic counselor explained that chromosome two is the second most prevalent chromosome in our body and that typically when so few cells are affected, the abnormality is confined to the placenta and not actually found in the baby. We would need to follow up with an amnio to rule the issue out for sure and that very important test would take place in six weeks.
We huddled. We decided to carry on with the family reveal weekend as normal and keep these results to ourselves. I promised to only do an hour or so of Googling on the condition. I rarely keep promises to not completely freak myself out with internet research, so I was somewhat relieved to find very limited search results. What I did find, though, is that it is indeed very rare for children to be born with a chromosome two abnormality and that most other couples forced to play this particular waiting game were ultimately given the all clear from their amnio results.
Internet results aside, we would have to wait six weeks to confirm we were in the lucky group of expecting parents who ultimately proceed on through the remainder of the pregnancy. Unlike the more common chromosome abnormalities, a confirmed chromosome two condition typically means the pregnacy is not ultimately viable. With these two very different outcomes now bouncing around in my brain, I backed down off my mountain top. We would continue to keep all things pregnancy restricted to family and close friends. No internet allowed. I put the borrowed pregnancy books back on the shelf and decided to finally sign up for a yoga class again. With six weeks to wait, I decided to use this time to focus on me a bit more.
So that’s what I did, mostly. Yes, I did occasionally type in some different variations of the Google search and I did re-read some of the more popular articles about chromosome two mosaicism. For the most part, however, I was pretty good.
Six weeks later it was finally time for the amnio. My husband was out of town for a business trip, so I faced the long, thin needle alone. The procedure was quick and not even close to being as painful as IUD insertion (my pain comparison for any in-office procedure). After waiting six weeks, you’d think 48 hours would be easy. We finally received a call at the end of the next work day. The FISH results were in and all 400 cells had come back normal. Unlike the FISH results from the CVS, we were relieved to learn that there was very little chance for a discrepancy between the FISH and final results this round.
A couple weeks later our final results came in and we were finally able to put the genetic testing phase behind us. We were in the clear and I now knew way more about chromosomes than I’d ever thought I would.
I decided to create this blog because I wanted to share this story. I hope it will be another search result for those of you currently spending a little too much time on Google. I hope it will fill you with optimism while you wait and I hope it’s a helpful anecdote for those of you trying to rule out a similar condition.