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12 Weeks: Does Genetic Testing Bring Peace of Mind or Panic?

Taylor Hengen Newman

Because I had a blood clot in college, I was transferred at the beginning of my first pregnancy – three years ago -- to an exclusively high-risk OB practice. The doctors there were, in a word: thorough. While I appreciated the close oversight with regard to my blood thickness levels, and – as a first-timer -- jumped at every chance for an ultrasound I got, I soon realized the down-side to a highly medical, closely monitored pregnancy was that the line between peace of mind and potential panic was a thin one. But since I’d been sent to the high-risk practice from the ‘regular’ OB upon handing over my medical files, I assumed this was how my pregnancy had to go down. When it came time, around twelve weeks, for a slew of genetic testing, I didn’t question whether it was all necessary or helpful. I didn’t know what most of the disorders that the tests were intended to detect even were, but I suspected they weren’t anything good, and I figured it’d be reassuring to get the all-clear when the results came back.

Long story short, I didn’t get that ‘all clear’ until after I’d been called (on the day before my wedding) and told I carried a gene for Spinal Muscular Atrophy. (Which is pretty much what it sounds like, and nothing I’d wish on any baby or family, ever. It’s not actively expressed in me, obviously, or I wouldn’t be alive right now.) There was only an extremely slight chance it’d be present in my kiddo, and that’s only if Aaron – my hubs – carried the gene, too, and only then if our genes paired up in such a way as to pass the disorder along. If they did, it still wouldn’t guarantee the disorder would be actively present in the baby. We’re talking super unlikely overall statistical probability here. But I had to sit through a meeting with a genetic counselor who lacked any sign of human empathy or bedside manner before Aaron was even tested, and then – thankfully, and not surprisingly -- the whole thing was moot. Aaron doesn’t carry the gene, and thus our baby definitely couldn’t either. (No one in my family has ever had a baby with SMA, by the way… I later learned from my aunt, who’s a Physician’s Assistant, that it’s such a rare disorder that there’s some debate over whether it’s even worth testing for in the first place. Of course, no one told me this before I was tested, and scared to death in the process.) After this experience, I continued to roll with the high-risk pregnancy protocol, but I didn’t get quite as caught up in the paranoid culture that is American pregnancy today. By the time I was due, my doctor told me I was the healthiest high-risk patient he had. For all of that medical oversight, my baby had developed just perfectly in my body, and the testing hadn’t had a hand in that everyday-miracle at all.

This time around, I knew I’d likely need to work with a high risk OB again, but I wondered what the possibilities were for a more laid-back pregnancy, given the constraints. I want to be safe, of course, and ensure my baby and I are both well, but I don’t want to be induced – something I was told, last time, was mandatory with a blood clot history on the books – and I want to feel calm and confident in these months leading up to delivery day. I found an OB who handles both high and low-risk pregnancies, and met with her early on; she knows I want a natural birth, so that’s what we’re mutually shooting for. And in the meantime, we’ve already had some lengthy conversations about everything from the flu shot to in-hospital water birth to, most recently, genetic testing. Because it’s that time again; we’re coming up on twelve weeks preggers, and I had to make some decisions about how much I want to “know”… and how much I think these tests really matter. (The answers to these questions are definitely different for everyone.)

I was tested for so many things last time, and we know I don’t carry Fragile X and a host of other genetic abnormalities (and that I do carry SMA, but Aaron doesn’t), so there’s no need to run those tests again. But I’m also taking a more proactively minimal approach to testing during this pregnancy, in general. As we looked at the list of possible tests, I asked my doctor specific questions about what each is for, what the results might mean, and so forth, before simply letting her check off every box on the page. I’ve chosen to have a sequential screening done; that’s the standard, basic test to check for Down Syndrome and neural tube defects. And that’s the only box we checked.

I know a mom who was tested for absolutely everything while she was pregnant, turned up no abnormalities, and gave birth to a (beautiful, wonderful) daughter with Down Sydrome. For whatever reason, it didn’t show up on the tests. I know another mom for whom an amnio was recommended by her doctor, who thought her baby might have Down Sydrome; the amnio ruled that out, and it was correct. I have yet another mom-friend who recently delivered her fourth child. She chose not to have any ultrasounds or blood tests at all, from start to finish. Her baby’s totally healthy. This friend said that she trusted the natural processes of pregnancy pretty well by kid number four, but also that she wouldn’t have changed anything had some test shown her baby had a problem; for her, there was no point in testing anyway.

I don’t actually know what my response, feelings or course of action would be if I was told something was really wrong with my unborn child. I’m not going to put myself through the ‘what if’ game with that. I’ve faced the unexpected before, as a parent, and I know the unexpected is the risk we take – it’s guaranteed, in some form or another – in becoming parents in the first place. But I’m focusing on taking pregnancy a day at a time, with positive intentions for a perfectly healthy, happy baby at the end up this nine months. In the back of my mind, I’m aware that a very small percentage of families have babies with extremely rare and debilitating genetic problems. (I read this article the other day and was saddened and unnerved, to say the least.) But I’m determined to have a Fear-Free Pregnancy, and, for me, that means taking it easy on the medical side of things whenever possible. It means enjoying the time between OB visits, rather than holding my breath, anxiously waiting to see the baby on the ultrasound screen again, proving everything's okay. It’ll mean opting for less monitoring during labor, assuming all is going as planned, so I’ll be free to move around the hospital delivery room as I would at home. It means, in the meantime, whenever I’m tempted to freak myself out on Google because I forgot the deli meat rule and ate a ham sandwich (or because I felt a weird cramp, or because I walked belly-first into a door frame in the middle of the night... yeah, that happened), taking one look at my handsome, healthy little boy, and reminding myself I’ve done this before. I’ve grown a baby. Worrying is not required. I can do my best to eat the right things and not be a total klutz, but I can’t ultimately control this process. I can trust it, though, and I do. I appreciate having a great doctor, but I don’t need a test to tell me that this everyday-miracle is happening again. Go ‘head, growing baby, work your magic.

How much genetic testing did you have during pregnancy? Did you opt out of any of it? What about other standard operating pregnancy procedure? (Any no-ultrasound mamas out there?) Did you have any tests that were totally helpful and changed the course of your pregnancy or led to certain decisions? Thanks for sharing your thoughts and experiences!