Re: Prenatal Genetic Testing

 Last year around this time I was pregnant with Lily, and we started going to birth classes. We went with the Bradley classes, and overall I was very happy with them; I feel like even with my preterm labor happening so fast that I didn’t get to utilize the techniques as much as I’d hoped (and not getting to even finish the classes since I had her before they were over!) it was still money and time well spent. Hell, I’ve used the techniques multiple times since, getting a cyst drained, and a root canal.   

But all that being said, there was one thing that really upset both of us at the time. I chose not to say anything, because I didn’t want to make it weird with weeks left in the class. And then with everything else, I mostly forgot about it. But it’s been on my mind a lot recently and I decided to go ahead and email the teacher. I’m also going to include most of what I have to say here, because I think it bears saying to a lot of people out there. And let me be clear- I loved our birth class and I loved the teacher. If we have another baby I’ll be contacting her to see if she does a one on one refresher course for non-first time parents. I am not angry about this. But it was something that I think is important enough to bring up, even so long after the fact. 

 

For those who don’t recall, or who aren’t familiar with our story, I had an abortion at 33 weeks because my baby’s brain had been totally destroyed by hydrocephalus. However, her brain stem was unaffected, so she would have lived. She would never have progressed mentally beyond the newborn stage, and would have had zero quality of life. The hydro was discovered during the anatomy scan at 20 weeks, but didn’t progress to the point that it was terminal until 30 weeks.

 

So all that lead up to this- we were in class and the topic of prenatal genetic testing came up. The point that was made was that these tests have a high rate of false positives, so they aren’t a good idea; the stress isn’t worth it. And if the test did show something, “you wouldn’t do anything about it, right?” (Referring, very clearly, to the idea that you wouldn’t want an abortion just because of a genetic defect like Downs, which is everyone’s go to example for these things.) I got up at that point and left the room. It was very normal in a room full of pregnant women for one of us to leave for a bit to make a bathroom run, so I doubt anyone thought anything of it. Also, and in some ways worse, on the website of recommended reading for the class, there was a link to an article arguing that no ultrasounds should be done as long as there were no other factors to suggest any risk of problems.

 

The “I wouldn’t abort, so why worry myself” argument is one that you run into a LOT, both online and in person. The ultrasound thing is far less common, but not by any means unheard of. I actually considered having few or no ultrasounds myself, and skipped the nuchal scan at 12 weeks with River. But the naïveté and presumption in that statement is breathtaking. You really, really don’t know what you would do until you’re faced with that situation. And more importantly, most people say it assuming that it’s more or less a question of willingness to raise a special needs child. Um no, leaving aside the morality of terminating “just” because of special needs, as well as the realities of living with a special needs child who will be dependent on you for the rest of your life, it is often an issue of a child who won’t live, or who will live with constant suffering. Some women, when faced with a stillbirth or a child who will die in their arms in minutes, choose not to carry a pregnancy for nine long, miserable months, just for it to end in tragedy. Others, like me, have children that can survive, but whose quality of life would be so poor that it would be cruel to force it on them. I would pull the plug for my husband if he were in a terrible accident; I chose to do the same for my daughter when it was the kindest, most loving choice I could make.

 

I no longer have the luxury of naiveté. With my first 3 pregnancies I had (or planned to have) no testing done, skipped the NT scan, and considered opting out of all ultrasounds. I definitely had the “nothing bad will happen to ME” attitude. Now, unfortunately, I know better. We had/have ZERO risk factors for anything that’s happened. But so far we’ve beaten the odds (in a bad way) multiple times. Miscarriage after a good ultrasound showing a strong heartbeat and growth on track, 2 unexplained miscarriages in a row, overwhelmingly severe fetal hydrocephalus with no known cause. All of these are very unlikely, especially with no risk factors like a clotting issue on my part or something. And yet. 

 

Because River’s issues were not genetic, a genetic screening did not tell us anything about whether Lily would develop a hydro as well. We had to wait for the anatomy scan to find out anything on that. But at that point, just because it was highly unlikely something ELSE would go wrong, didn’t mean it wouldn’t. So we had the screening, just to know as much as we could. 

  

Also, even for those who really wouldn’t terminate, I still absolutely wouldn’t want to find out at birth. For the same reason that I chose not to be team green this time, because I didn’t want to deal with gender disappointment once my baby was here, I wouldn’t want to deal with all the emotions involved with having a special needs child at the same time that I’m trying to welcome that child to the world and get to know and love her. And time to prepare is very good to have, so that you can have resources in place BEFORE you’re dealing with a newborn. I’ve read an article by a woman who went through this, finding out her baby had Downs at birth, and it was devastating. And she now feels guilty that when her baby was first born she was devastated instead of elated. We had started the process of preparing for a special needs baby when we thought River would be able to make it, and it was overwhelming. I can’t imagine how much more so it would be when you’re also dealing with the shock of diagnosis and handling a newborn.

 

Last thought, specific to the ultrasound issue- River’s issues wouldn’t have shown up on a genetic screening, but it’s worth noting that had we not found out that she had a hydro before birth, it would have made things much worse. Had it not gotten as severe as it did, we planned to deliver at 34 weeks so the shunt could be placed as early as possible, to give her brain as much time as we could to develop without the pressure of the fluid. Had we not known till birth, that would have been up to 8 more weeks of the hydro growing, and she would have lost all that potential brain development. Once you miss critical windows in development, it can only go back and make up for it so much. (Which is why, in the end, her situation wound up so dire. It was too late for her brain to bounce back from the amount of damage done.) Also, her head could have gotten very, very oversized, making an attempt at a vaginal delivery much more dangerous. Knowing as much as possible ahead of time allows you to make decisions that you might not even know you need to make, in time for them to make a difference.

 

Really, my biggest fear with genetic screenings is not the risk of a false positive, but a false negative. I’m far more afraid of believing everything is finally okay, and being wrong, than a little stress over something that turns out to be nothing. Suggesting that the stress of a screening isn’t worth it is extremely naive. And for someone in a position of influence to say it is bordering on dangerously irresponsible. 

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