On Screening Tests During Pregnancy

Maternal screenings & NIPT

Let me begin this post with the utmost gratitude for having access to and being able to afford the best maternal healthcare, screening and non invasive prenatal testing (NIPT). To forget or neglect that privilege is simply unacceptable, in my opinion.

That being said, just because we have it doesn’t mean it’s cut and dry and your pregnancy will be a breeze as a result. It may actually be quite the opposite. With the knowledge these screens provide us also comes the responsibility of decisions and choices. I’m going to give you my story without the scientific breakdown of each test but feel free to reach out with any questions regarding anything I mention here.

My fertility journey began far before I even conceived because of my career – an occupational hazard, if you will. I’ve watched several vaginal deliveries and C-sections and witnessed many a complication. I’ve had patients and clients with false positive screenings and true positive screenings, those who have had to make the hard decision to terminate based on results – you name it, I’ve seen it. And so I thought I was prepared for it when my turn came.

Coming from a medical background I always knew that I would be opting in for all the screening and NIPT available to me. Thankfully my husband lives in a box of logic and so he was right there with me. We had already done our genetic carrier testing prior to conceiving so we knew that there wasn’t anything in that realm. And with my age I naively thought my Panorama bloodwork testing for chromosomal abnormalities (trisomy 13, trisomy 18 and trisomy 21 specifically) would be all clear as well. You would think seeing everything I see I would know better that DNA can do whatever it wants regardless of age, but. I knew something was up when it took almost 2 weeks for my OB to call me with the results – being on the medical side of things also means I know how long results take to come back and this was too long.

When I got the call at work on a Monday I panicked, forgot to ask any questions and just rushed to do as I was told. I’m very practical and rational with this stuff, after all. But as soon as I put that phone down I broke down crying and my coworkers were shocked at my tears as I’m usually the tough one. I was already 10 steps ahead planning a termination based on the result showing possible trisomy 13 or 18. I was already telling myself I would never try to get pregnant again.

I went in for my CVS exam (chorionic villus sampling) the next day, like the compliant patient that I pride myself on being, even though it clearly hadn’t protected me from this result. The CVS exam uses a needle about the size of a flu shot to extract tissue from the placenta to confirm the initial bloodwork results. It can be done via your stomach (transabdominal) or via your vagina (transvaginal) depending on the placement of your placenta – mine was transabdominal. Before you can do the CVS exam you have to meet with a genetic counselor – and thank goodness for them, let me tell you . First they walk you through how the initial testing was performed and what the actual results say/mean. This on its own was HUGE. Understanding how a test works is key to understanding the results and possible outcomes – and most importantly, where you stand. Then they walk you through your options, including the CVS exam and how it’s actually done. Lastly they let you know what to expect in terms of decisions you could be faced with once you have the results – and it depends on how extensive you choose to go with the testing, too, as it’s not all automatically done because of those decisions that will then be forced upon you. Again, both with my medical background and my “compliance” we went all the way and did the full microarray testing associated with the CVS.

Even though I’m a nurse I’m a baby when it comes to procedures and my fear of pain is a bit irrational. So I was terrified of the CVS exam. Much to my surprise it wasn’t bad AT ALL and I’m happy to walk anyone through it now. The performing physician couldn’t have been lovelier, more calming or more adept and it was over before I knew it. The emotions I experienced in those 48 hours were far more painful than the physical experience of it all. They scan the baby and placenta prior to the CVS and you see/hear the heartbeat, taking your attachment to another level and for me who was already thinking worst case scenario and planning my termination this was the most difficult part. I was told if the scan is normal that’s the first step toward knowing that the initial Panorama result was a false positive and we’d get the initial results in 24 hours. If the initial was normal as well then we’d be almost in the clear. The full results took about 3 weeks. While I zombie-d out during that initial 48 hour period I promised myself that I wouldn’t sit and sulk while waiting for the full results. As a control freak it was very freeing and calming to realize I have zero control over the situation and that it was out of my hands, regardless if I lived my life or not.

Thankfully my story has a happy ending in that my initial result was a false positive and everything with this testing ended up being normal. But of course another hiccup at my next screening test – the AFP (alpha fetoprotein) – done via bloodwork. It also tests for potential genetic disorders as well as neural tube defects such as spina bifida and can indicate growth restrictions. My result came back borderline and so I’ve had monthly scans since instead of the routine number of scans, just in case. So far, so good!

Of course there are still many things that can go awry and until that baby is out safe and healthy in my arms I won’t feel fully in the clear. But that’s my point – the testing we have access to, as lucky as we are to have it, is not the end all be all. They’re all screens and not 100%. That being said, the purpose of this post is not to scare you but to inform you and advise you to get educated. And I don’t mean via Dr. Google – I mean via research with a competent medical professional so that you know exactly what is being tested, how the testing works, how results are presented and how to interpret them and what the possible outcomes are. Although we have little control over pregnancy, being in the know and managing our expectations can make the ride a little smoother.

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