When You Get a Terrifying Prenatal Test Result – Kveller
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When You Get a Terrifying Prenatal Test Result

In all honesty, I never planned on doing any prenatal testing. At 30, I was not of “advanced maternal age,” had no pre-existing conditions, and I’d already done the blood work that ruled out being a Tay-Sachs carrier. Still, my husband and I listened as my OB explained what was out there at our first prenatal appointment and stuffed the pamphlets in my purse, thinking this was something “other” people do.

After we talked, he went about the exam and then at the end came the part I’d been waiting for: hearing the heartbeat. He put goo on my belly and waved the Doppler, waiting to hear that helicopter-like sound of the baby’s heartbeat for the first time. We waited, and waited, and didn’t hear anything.

Knowing what that could mean, naturally, I feared the worst. He was comforting and explained this isn’t terribly uncommon at ten weeks; sometimes it’s just too soon to hear a strong heartbeat. I wasn’t convinced. Because it was a holiday weekend (Memorial Day) and because I was so visibly panic-stricken, the doctor wanted to make sure things were OK, so he ordered an ultrasound for the next morning.

At the ultrasound, everything seemed fine–we heard the baby’s heartbeat strong and loud and saw it moving on the screen—and the connection I felt was surprisingly instantaneous. Before that moment, the pregnancy had seemed surreal, intangible even. I didn’t have any morning sickness and hadn’t gained any weight yet—two normal physical symptoms—so this confirmed that life was, indeed, growing inside of me.

Then about two hours later, everything changed yet again, when my OB called with official results from the ultrasound. I knew something was wrong from the tone of his voice.

It turns out he saw what’s called “increased nuchal translucency,” which is essentially excess fluid at the back of the baby’s neck and can be associated with Down’s Syndrome and a few other genetic conditions—including several fatal ones which often result in termination.

The “T” word.

I’ve always been pro-choice, but I had just seen my baby swimming and heard its heartbeat. All of a sudden, I didn’t know which way was up, or what we’d do if faced with that decision. Down’s was absolutely not a reason to terminate in my mind, but the other conditions he’d mentioned are fatal.

All the joy we felt merely hours before was washed away. Fear and anxiety took over. I began Googling “increased nuchal translucency” like crazy and posting on BabyCenter for advice. My husband tried to assure me, but was hard to breathe, let alone think of all the possibilities.

After an agonizing week, I went back for another ultrasound. The measurement was still too high, so my OB sent us to a genetic counselor in the hospital’s perinatology unit. He also ordered a nuchal translucency (NT) scan for later that week, which is an ultrasound that looks specifically measures NT and therefore is more accurate than a regular ultrasound.

We did that, and because the measurements were still above normal, the next recommendation was to see a special perinatologist an hour away who would perform chorionic villi sampling (CVS). This procedure, which removes villi from the placenta, tests for chromosomal abnormalities and can only be done between weeks 10 and 12 of pregnancy. Depending on the results, we could be in a very precarious situation. I was 11 weeks along, so we had to move quickly.

Though I’d read it is an uncomfortable but not particularly painful procedure, I found CVS to be both uncomfortable and painful — mostly because it’s an incredibly invasive procedure that has to be done with a full bladder. (Imagine the sensation of a Pap smear with a full, pregnant bladder while the ultrasound person is pushing down on your belly—for like 10 minutes).

It was hell.

I couldn’t watch what was happening on the screen; I was shaking too much and I squeezed my husband’s hand so hard it nearly broke. And because they didn’t get enough cells to sample the first time (mostly due to me shaking and being so tense), they had to do it again. I was hysterical: This surely isn’t the case for most women, but it was something I’d never want to go through again.

After it was over and I’d calmed down, I saw the test tube full of little red squiggles—cells from my placenta—and felt a sense of relief, knowing this part, at least, was over. Then it was time to wait some more. For two days we were on edge, plotting, planning, thinking, wondering.

The preliminary results came back and I was beyond relieved to find out I tested negative for the four primary chromosomal abnormalities CVS tests for: Trisomy 13, Trisomy 18, Down’s Syndrome and Turner’s Syndrome). And because CVS tests the baby’s DNA (Turner’s Syndrome, for example, is a female genetic disease), we learned it was a girl.

But while we were relieved to know what conditions we could eliminate, the full panel, which tests for many more than just those four abnormalities, wouldn’t be ready for a week.

When that came back negative, too, my perinatologist was pleased, but perplexed—though he said he’s had this happen to several couples (a false positive NT scan, but a negative CVS test).

Although he was optimistic for us, he said we weren’t completely out of the woods just yet and explained that sometimes increased nuchal translucency can mean a heart defect or neural tube defects. So we set up a fetal echo for the day of my 20-week anatomy scan and also did a screening for neural tube defects. We waited another eight weeks and our daughter grew, and the nuchal translucency measurement was suddenly back to a normal range.

Everything seemed OK. Then at 32 weeks we discovered something totally irrelevant to the testing we’d been through: The umbilical cord was wrapped around her neck and she was measuring on the “small side of normal.”

The hits just kept on coming.

I’d need to have non-stress tests twice a week for the duration of the pregnancy, which only upped my anxiety levels.

Given everything we’d already been through, these two things combined led my perinatologist and OB to agree to deliver the baby via C-section sometime in the 39th week. Our sweet Maya was born on December 18, 2010, weighing a healthy six pounds four oz–small, but not as small as our doctors had been thinking.

All these years later, I still don’t know if the nuchal translucency measurements were off from the beginning, or if by some miracle they corrected themselves in the womb. We don’t know if they only saw something because I’d had an ultrasound so early on, or if it was just a complete fluke of nature. All I know is I had way more prenatal testing and prenatal care than anyone I know.

On the one hand, I felt confident I was getting excellent care and knew what conditions and abnormalities we could cross off. But at the same time, it was a stressful pregnancy from the start and I never got to enjoy it. I spent much of it researching and worrying about “what ifs” that never came to be, things that I’d never have even thought about without the testing. And, in the end, the increased nuchal translucency at 10 weeks—what started the ball rolling in the first place–ended up being a false positive.

Does all the extra knowledge we can get these days offer comfort, or more fear? The answer is: a little bit of both. All I know is that in my second pregnancy, I opted for extra ultrasounds and tests again, because my anxiety wasn’t going anywhere.

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