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Genetic Testing: Is It Worth Knowing?

“It’s not about the knowledge but what you do with it,” were the ominous words spoken by my obstetrician when she reviewed our baby’s genetic testing options with my husband and me. Eesh. What is worse, in a scenario like that—knowing or not knowing? That’s the question that would basically apply to our entire genetic testing experience, this time around.

I opted for the testing because I wanted to know, and also, I sort of assumed things would be fine. Everything looked good with my first child, and it would be nice to be similarly reassured the second time around. Plus, since I am 35, newer, more definitive tests would be available to me, ones that I assumed would negate the horrible doubt and terror that ate at some of my other friends who had received ominous yet nebulous results on their prenatal tests.

My genetic testing was scheduled the day before my husband, my son, our dog and I were due to move, and it was an entire weekend I was looking forward to having over with. In the back of my head, I just assumed the test would be something to get through and it would be over and then we’d be focusing on moving.

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I never even got to the fancy, old-lady blood tests that would let us know, definitively, whether our baby had a chromosomal disorder or not, because we got pulled into the serious-faced genetic counselor’s office just minutes after the ultrasound, where we had marveled at our little baby dancing around inside me. It felt more fun this time than the first time, knowing (assuming) that that little active ghost inside would turn into a real, active child we would live with. It turned out that the baby’s nuchal translucency measured 3.7 millimeters, and that the cutoff for normal at the office was 3.5. The baby had a 30% chance of having a chromosomal disorder.

So what do you do with that information? Learn more or just pack it up and hope for the best? The counselor informed us that most couples in our situation opted for a chorionic villus sampling (CVS) and we went for that. I just wanted to know, and as quickly as possible. I was able to be squeezed in that afternoon, so after a few very distracted hours at work, I came back downtown to the hospital for my appointment.

I was informed that the procedure could be done vaginally, so I didn’t feel so bad at first. However, I ending up having the procedure done both ways: a needle also went through my abdomen to collect samples from the placenta, which freaked me out. The first, supposedly numbing needle, felt like a regular needle. And then, after the second one came in, the doctor said “big cramp”—as promised, I felt a sharp cramp in my abdomen. But what was scary wasn’t so much the needles (I'm not even particularly needle-phobic), but knowing what was going on.

The baby had a 30% chance of having a chromosomal disorder. So what do you do with that information? Learn more or just pack it up and hope for the best?

It was over in a minute or two and I didn’t even get a Band-Aid on the entry spot. The doctor told me to take it easy for the next 24 hours (which meant no helping with the move). I would find out the results the next day. I felt exhausted, and sad in a way that I couldn’t articulate. I went home and resigned myself to a night on the couch watching stupid TV while my husband would somehow pack and watch our toddler son.

My night on the couch was complicated, however, by our cable being cut off a day early. Somehow, maybe because it’s always that little tiny stupid thing that pushes you over the edge, Comcast screwing up was worse than the entire day’s events. That’s right, add it to the testimonials: Comcast is worse than having a needle in your placenta.

Due to sheer exhaustion, my husband and I both fell asleep early that night but, at 4:30 a.m., I woke up. Moving day. Day we found out about the baby’s health. Don’t think about it, I told myself, but of course all I could do was think about it. It’ll probably be fine, I thought, and then, You idiot. Now things will NOT be fine. I thought about what we would do if things were not fine, because we did know, at least to a point, and thinking about it made me miserable. There is definitely something wrong with the baby and you’re going to have to un-tell everyone you told about the pregnancy and stop being excited about telling the people you were going to tell. Don’t think about it. Go back to sleep. Oh god. It was time to get out of bed.

The not-knowing, but soon-to-know, was absolute torture. Finally, I opened up my laptop and started working on some projects I had been avoiding, grateful for the distraction.

After we were finally all moved out of our old house, it was time to head to our new home. My husband put me in charge of getting us a few sandwiches. I bet I’m going to get a phone call while I’m talking to the cashier, I thought, which would be a serious etiquette conundrum for me. Typically, I think people who speak on the phone mid-transaction are quite rude, but how would I be able to ignore that particular call?

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Moments after I had finally walked into our new house and set down the sandwiches on our new kitchen island, my phone rang for the third time that day. It was the genetic testing office. The results were in, and there was a 99% chance that our baby did not have any of the major chromosomal disorders they were testing for.

I’m not proud to say I uttered a big swear word of relief into the phone. My husband and I hugged for a long, long time. He was so happy that he told the movers what happened.

In the end, I know it probably wasn’t that big a deal. We got a scare and had to think about what would happen if things didn’t work out for us as luckily as they have thus far in our parental lives. But in the moment, it was a type of emotional torture unlike any I’d gone through before—even when I was in labor, while it was quite unpleasant, I pretty much assumed it would end—safely, eventually.

I got a later phone call confirming the negative results of my tests (negative being a positive outcome, in this case). The genetic counselor also offered me the opportunity to receive further, more extensive screening. This time, I declined. I didn’t want access to that type of knowledge. Even if I knew what I would do with it, I am aware now that knowing what I would do with it wouldn’t make waiting for the knowledge any easier.

Image via Getty Images

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