Because Pregnancy is Invasive Enough

By Jennifer "Jay" Palumbo — March 13, 2018

4 min read

I vividly remember being hugely pregnant (well, I felt hugely pregnant for 16 weeks) and calling my husband crying after just getting off the phone with my OB/GYN. She had called me personally. So funny that when your doctor calls you personally, you know it’s not a good sign.

We had been trying to have a baby for several years now and it sucked, so I foolishly thought that actually being pregnant would be the easy part. I thought wrong. It seemed every week there was a new hurdle or test or problem. There was blood work, urine tests, anatomy scans, and milestones to pass. I asked my mom, who was pregnant back in the late 60’s and early 70’s what they did back when she went to the doctor’s. She said they’d weigh you and send you along your way. I longed for those days until she added that her first doctor also put her on diet pills for her first pregnancy. Yikes.

But back to me hormonal and crying…

This was now the third blood test where the Down syndrome ratio had come back a little too close for comfort for my OB. She wanted us to think about having an amniocentesis procedure, which would give us a definitive diagnosis of Down’s or not. She wanted us to at least have all of the information so that, if it was positive, we could make a decision about continuing the pregnancy or at least have a little extra time to prepare ourselves to care for a child with special needs.

The thing is, though, with an amnio, there is a risk that the procedure itself could cause a miscarriage. Numbers are not my strong suit and this was a few years ago, but what I remember was that at this point, because of my age and the results of my screening tests, the odds of our child having Down syndrome were greater than the risk of having a miscarriage from an amnio. At least that’s how my doctor explained it.

I had a lengthy conversation with my doctor, I spoke to a genetic counselor, asked a million questions, and then, I called my husband (again, crying) to discuss what I had learned. When you work that hard for that long to get pregnant, you are terrified to do anything that might jeopardize it in the slightest, so I didn’t take this lightly.

I learned that back in the day, they used to do these tests without the use of a sonogram, which absolutely blows my mind. As you could imagine, that didn’t help statistics as they were going in a bit blind. These days however, it’s more like 1 in a 200 risk, and the chance of miscarriage is 0.5%.

Also, when they put a needle in the amniotic sac, it is not like a balloon that pops. Perhaps you knew that, but in my head at the time, that’s what I imagined. It turns out that it’s more like sticking a very small needle in your skin that starts healing as soon as the needle is removed. It’s not as fun as a vacation in Bermuda but most of the forty-five minutes for the amnio is taken up by doing a sonogram, sterilizing, and prepping. The needle is usually in for no more than 60 seconds. For some, it doesn’t hurt. For me, well, it was uncomfortable. It pinched, and I had a weird, slight back pain afterwards but that was the worst of it. They have you on bed rest afterwards to help the healing process along and in my case, to help me catch up on some serious crap television. Scary and uncomfortable but not the end of the world.

The funniest part to me was my husband asked the woman performing the procedure, “What happens to the fluid you take out? Doesn’t the baby need it? How does it get replaced?” She answered, “Oh, the baby just pees it back!” Ewwwww. But good to know.

I got a call a few days later that the baby was healthy, that it was negative for Down syndrome, and we were having a boy. To be clear: I’m not saying getting an amnio is “wrong” or “right”. For us, we agreed with our doctor. We wanted to know to at least be as prepared as possible.

Now, here’s the plot twist: Several years after this experience, I became pregnant again but this time, without the help of assisted reproductive technology. It’s only a few years later and I’m back with the same doctor. I’m 9 weeks pregnant, still feeling huge though, and my doctor tells me that, since my last pregnancy, they have come up with a new type of Down syndrome test I could have, called noninvasive prenatal testing (NIPT). She tells me that as early as 10 weeks, by just taking a blood draw from my arm, it can screen for chromosome abnormalities like Down syndrome, and none of it entails me worrying about miscarriage, having a back pain, or being on bed rest (the crap tv is optional of course). I was floored. In the span of just three years, that technology had improved that much amazed me.

And that was it. Literally. She took blood and as timing would have it, on Christmas Eve, which was week 12 of my second pregnancy, I got a call that the baby was healthy and (heaven help me), I was having another boy. All of this without the giant needle and all of those tears. It may sound over-dramatic (I was a theater major), but after all of the anxiety, indecision, and fear that went into getting an amnio the first time (while I still feel it is an option that should be available) it was such a relief to have the choice not to go through it again. I sincerely was grateful.

Family building, every part of it, presents challenges. Whether it’s getting pregnant, staying pregnant, or making sure the pregnancy is healthy, it’s scary and it’s difficult to always know what’s best for you and the little one you’re hoping to bring into the world. I know that’s how I felt. To know that they (meaning smart doctors and scientists) are always working on new options, I find comforting. I will never be pregnant again (no really, it’s not going to happen – I’m done) but I can’t wait to see what the world of science, medicine, and technology will come up with next to help the next hormonal patient like me.

Note from CooperGenomics: NIPT is a screening test and is not diagnostic. If NIPT results come back abnormal, an amniocentesis is recommended to confirm the results.

While this blog has been approved by CooperGenomics, the views and opinions expressed by the author are theirs alone and may or may not reflect those of CooperGenomics or their team.