I’ve been “advanced maternal age” for all of my pregnancies except the first one. Then I was 33, but I lost my daughter just shy of my 34th birthday. My subsequent pregnancies were then at 35, 37, and 39.  I’m currently expecting again at 42. Once you hit your forties, genetic testing isn’t just recommended, it’s pretty much required.

genetic testing

During my first pregnancy after loss, I didn’t think about genetic testing too much. My loss wasn’t associated with a genetic condition or abnormality. I knew it was a possibility, but I didn’t dwell on it. We didn’t ask for further testing. We just did what was recommended, and what our insurance covered.

With my last pregnancy, the clinic recommended a noninvasive prenatal test (NIPT), a blood test used to screen for Downs Syndrome and other chromosomal disorders. The test they recommended was MaterniT21 and it was covered by insurance so we decided to do it. The clinic also then made me meet with a genetic counselor to discuss the test, what it entailed, what the results could mean, and other testing available to us.

Having never really worried about potential genetic conditions before, I went to the genetic counseling appointment by myself. I wish I hadn’t.

I’m not adept at science and while the material the counselor was covering was probably dumbed down considerably, I felt in over my head. I was trying to keep up as she went through charts of what the chromosomes should look like, and all the different variations that could present themselves. She went through statistics of the risks of having abnormalities and how it increases with your age. She started asking if I wanted more than just the NIPT or if I’d like more invasive tests like chorionic villus sampling or an amniocentesis.

Suddenly, I felt I wasn’t ready to make these decisions without my husband there. We hadn’t really discussed these tests before. We assumed that everything would be fine.  They had in three pregnancies.  But now, I was older; my husband was older. Did I really want to risk it? In the end, I decided not to do more than the MaterniT21 test. Results came back within a week and they were within normal range. We also did the recommended 12 week ultrasound, the NT scan, which assesses the risk for Down’s Syndrome and trisomy. The results were also fine. We carried on without giving it much extra thought.

This pregnancy, however, the anxiety and paranoia surrounding genetic testing was higher than ever before.

I’m 42. From my very first OB appointment, doctors started discussing my age and its effect on my care plan for the pregnancy. Discussions about genetic testing were prominent. They didn’t do it in a manner that was insensitive or upsetting. They were very kind and reassured me that my age was not indicative of a doom and gloom scenario. Many, many women are giving birth in their forties.

But I was suddenly more worried there was going to be something wrong with the baby. I wasn’t worried that there would be a special needs baby in my future, but I was worried about the condition that would make it incompatible with life. I was worried that I would know beforehand that I would miscarry. That fear was palpable. And knowing that my age could be the very factor that led to my baby’s death was too much to bear.

During my first OB appointment, I only asked about rates of miscarriage and my age. Even after seeing a perfect heartbeat. Even after seeing a cute little gummy bear image of my baby on the screen. Was this a viable pregnancy? And what are the chances it won’t stay that way? What can I do to help it last?

At 10 weeks, I was sent to the perinatology center at the hospital for my NIPT and to the required counseling session. The counselor went through the entire spiel and then it was my turn to ask questions. Oh, I had a lot of questions!

How accurate is the test again? What exactly is it testing for? What are all those genetic abnormalities you’re looking for and what do they mean for the baby’s life? Even if the results are normal, what are the chances the test is wrong? I know that is the same as the accuracy question, but please repeat it again? How necessary is further testing? Should I get invasive testing because of my age? What are the rates of miscarriage for invasive testing? How accurate are those results? What are the chances this baby will die on me too? Is there anything I can do to prevent these conditions?

She was very nice and told me that if there was something that was going to cause me to miscarry, it probably would have happened early on. Sure, there’s still a chance something could go wrong, but the test could find that out and we can go from there.  One step at a time. She was patient and thoroughly explained everything I needed her to.

At the end of the appointment, she told me if the results were within normal range, I would get a message on my patient MyChart webpage. If there was a problem, they’d call me.

That following Saturday, I got a MyChart message that my clinic would call me on Monday. I immediately took a screenshot of it and texted it to my husband. This can’t be good, right? Should I start crying now? What does this mean? What’s wrong with the baby?

My husband calmed me down by saying it seemed to be an automatic message and that it probably was all fine. Turns out, he was right. On Monday morning, I got a message through the patient portal that my results were fine. That test seemed to indicate that nothing was genetically wrong with the baby.

We were still advised to do the 12 week ultrasound screening for Down’s Syndrome and trisomy. We didn’t need to do the CVS or amnio, unless we wanted to – we decided not to. And of course all the screening they do during the 20 week ultrasound. So far, so good.

But I still wonder if we missed something. I still fear that my “geriatric pregnancy” will cause damage to this baby and it’ll be my fault.

How do you get through this type of anxiety?

My number one tip is to remind myself that I’m not in control of what happens. I have no control over what chromosomes do when the sperm and egg join. I cannot control what happens with cell division in utero. If there was more I could do, I certainly would do it. I’m already doing what I can – eating well, trying to get sleep, and trying to keep my anxiety level down.

I also know that for me, anxiety lessens when I am educated on a topic. So I ask a lot of questions. I ask clarifying questions if I don’t understand what the answer is. I’ll admit, I do Google research, but I also recognize that I’m not trained in these areas and don’t automatically understand what I read. There’s always more to the story that I need to discuss with someone who’s trained on the issue.  I also recognize when I’m making it worse by too much research on the issue, and have learned to step back from it. I won’t discount my intuition, but I also need to trust my medical team when, after they’ve done everything they can, they assure me it’s fine.

So far, so good. That’s my motto. Everything is fine for now.

The truth is there’s so much in pregnancy that I have no control over and genetic abnormalities are one of them. While statistics show that age can play a big factor in contributing to them, it’s not a foregone conclusion that something is wrong with my baby. My grandmother had babies into her 40s over fifty years ago. She had much less monitoring; they knew much less than they do today, and everything turned out fine.

Even if it doesn’t, I also remind myself, that I’ve been through rough waters before. I buried my first baby and lived through it. I’ve had hard pregnancies since then, and survived. I can do hard things. Whatever happens with this pregnancy, this baby is loved. And that’s all that matters right now.

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