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The Good, Bad and Ugly: Prenatal Screening

By : Knitschmidt

Prenatal screening tests are one of those topics that people have very strong opinions on. And with their reputation  for not always being completely accurate, they tend to get a pretty bad rap.

When we had our first baby, we never really gave much consideration to prenatal screening tests. We had focused so long on just getting pregnant, that we hadn’t really given a lot of thought to what we would do once we actually got there. So we decided to just go with the flow and do the recommended (non-invasive – no amnio please!) screenings. And they were all normal. It was a non-issue, and in the end I delivered a healthy baby boy.

Then our second baby, our daughter, came along.

My second pregnancy couldn’t have been more different than my first! When I scheduled my 12 week checkup, there was a mixup with the dates and I actually ended up scheduled at 11 weeks. There was concern about finding the heartbeat that early, so they just sent me back for an ultrasound instead. Which is where the trouble started. The baby’s nuchal translucency was much thicker than it should be, which is a marker for Down Syndrome or possible heart conditions. Blood test confirmed that I was at high risk for having a baby with Down Syndrome. I was sent to a specialist who had absolutely no bedside manner, and promptly recommended we terminate when we refused an amnio. I won’t tell you what my husbands response was, but I will say it wasn’t pretty.

Further screenings were no better. My quad screen at 16 weeks indicated that things were worse than the initial screening would suggest and I was at an even more elevated risk of having a baby with Trisomy 18. For those not familiar with this, it is described as “not compatible with life.” Bad stuff. Back to the specialist we went, a different one this time, with every expectation we would be doing the dreaded amnio. We loved her. She spent lots of time with us, explaining what she saw on the ultrasound and why it made her confident our baby did NOT have Trisomy 18, and why she did NOT feel an amnio was necessary. Whew.

As a side note on amnio, I’m not anti amnio for everyone. It’s a fantastic tool that can provide a lot of really good information, but having one is a personal decision. It carries a very slight risk of miscarriage, and for us, any risk of miscarriage is too much. But we would have done it if the ultrasound had indicated serious issues.

So, we opted out of the amnio, but we still wanted to monitor closely, so I had monthly ultrasounds with my OB to track growth and development. We worried a lot. My doctor worried a lot. We were scheduled to induce so we could be sure to have NICU staff ready and waiting. And after a VERY fast induced labor, I delivered a perfectly healthy chunk of a little girl. A full chromosomal panel taken at birth showed that she had NO abnormalities whatsoever. What a little drama queen!

So after all that, I should be anti-prenatal screening, right? Wrong! We did all of the recommended screening again when we had our third baby. And it was all normal. And we had another healthy baby boy. For me, it was all about being prepared. Emotionally, I want to be able to prepare myself to expect anything. I would hate to be blindsided at birth. And medically, it was a billion times more reassuring to know that the pros were ready and waiting for any possible health issues related to a chromosomal disorder.

So here we are, back on the roller coaster again. I had the recommended 12 week NT screening, and we had a perfect ultrasound. Then a week later my OB called me personally with the blood results, and they weren’t good. We’re all a lot less concerned this time around, but I’ve been to the specialist already. All signs point to Healthy Little Drama Queen v2.0 so we’re rolling with it. Lots of monitoring. Planning for the best. Any guesses for a boy or girl? I know where I’m leaning!



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