Wow, so I have at least ten draft topics for ALL OF THE WRITING I wanted to do here, and, well, I guess things just got a little away from me! Since I have some time today, and I’ve been meaning to get back into the swing of things, I thought I’d go ahead with what is likely going to be the longest of my intended posts. And that is a recap and some thoughts on our experiences with genetic testing.
Let’s start at square one. Given our age and the slew of problems that we had trying to get pregnant, my husband was very concerned about a baby with genetic problems. It’s a fair concern, and I think it was fair of him to be honest with himself that he did not think he would be capable of handling the needs of a fully special needs child. It was something that we discussed at length, and together came to the decision that if there was decisive proof that there was a problem with our baby, we would have most likely terminated the pregnancy (I don’t care for a debate or any moral grandstanding on this topic – it’s an individual choice, that must be made by each individual. Period.). So, because of this, we decided from the get go that we weren’t going to mess around with what is often considered standard testing, and would start our genetic testing with a Cell Free Fetal DNA test. Even if that meant we had to pay the cost of the test out of pocket.
The Cell Free DNA Test
Once we met with our OB, we were sent to a genetic counselor to have a discussion on if genetic testing was right for us. It’s probably not for everyone – and some people opt out of any genetic counseling. After sharing our own experience, you may see why. Anyhow, we went in and basically said we didn’t want to do the scanning tests. Just jump to the cell free fetal DNA exam. Our lab performs this under the name “Harmony test”. Other, similar tests, may be called Materniti21 or another one that I can’t remember off the top of my head. Anyhow, what this test does is it is able to pull fetal DNA from the mother’s blood and look for the most common, major chromosomal abnormalities with a very high accuracy rate – with the main ones being Trisomies 21, 13 and 18. They can also test for extra X or Y chromosomes, and find out the gender of the baby. This is generally done between weeks 11 and 13.
Before we had this testing, we met with a genetic counselor. She sat down with us and took a medical history from both sides. Robert’s was very, very quick as he simply told her he was adopted and that was the end of the conversation. My side, however, was a bit more complicated. We went through my family history – and I do have some concerns on my father’s side, being that his family is a carrier for familial adenomatous polyposis. It’s a hereditary form of colon cancer, that if you have it, you have a 50% chance to pass to your children. My grandmother had it, my uncle died from it, and my aunt has less than half her colon. Now, if you don’t have it, you generally aren’t a carrier and can’t pass it on. My father gets tested regularly, and his gastrointerologist has told him that he is most likely not a carrier.
Well, during all of my medical issues the past few years, one of the things my hematologist (who is also an oncologist) had me do was go meet with my own gastrointerologist and be tested myself. So I did. And I had many tests – for this and other potential GI issues – and I was healthy. No problems. He subsequently told me that I am likely not a carrier, but I should be retested every 5 years, even though I’m younger than the general age you would start routine testing. Cool. No problem.
Well, my our first appointment with the genetic counselor, she pushed REALLY hard for some genetic testing related to this problem. I get it, it’s her job. However, despite advising her my father had been tested and told if he didn’t develop it, his kids were safe AND my own specialist in the area indicating the same thing as well as me not having any issues at my age (issues generally start to appear in your late teens/early twenties), she wanted me to go to my aunt and have her submit a blood sample for genetic testing to compare against mine. After advising her that wasn’t going to happen – and repeating what both my specialist and my father’s specialist said, she finally conceded that the extra testing was likely unnecessary and that everything was fine.
So after all of that, we were sent with our lab paperwork to have our cell free feta DNA testing done. About a week later we received the results indicating that we were all clear for the major Trisomies and we were having a girl! Great!
The Nuchal Translucency Scan
Around 12 weeks, we were given an ultrasound to measure the Nuchal Translucency on your baby. This is a pocket of fluid on the back of the baby’s neck. This scan is generally used to look for genetic risks, such as Down’s Syndrome, but is very inaccurate alone – and is considered a screening test. It is usually paired with other tests, such as blood work, to come up with a percentile risk for problems. They also can check to make sure all of the body parts seems to be forming correctly, and the intestines are on the inside of the baby, etc. Since we’d already had the cell free fetal DNA testing, we knew that we didn’t have any major issues, but were encouraged to still do the 12 week scan as it can help identify other potential problems, such as heart defects.
Well, it turns out that our NT Scan was very slightly over what would be considered normal in the US. I specify that because in other countries we would have fallen within “normal” ranges. Anyhow, I digress. This lead to a second meeting with the same genetic counselor – and it did not go well at all. I know that her job is to offer a risk assessment based on the information provided. However, there is a right way and a wrong way to do this job. And I would say that she hit all of the wrong markers. The conversation went so poorly, that Robert refused to see her again.
Let’s talk about how she started this conversation. It was with telling us that our scan was slightly elevated – and since we’d already ruled out major problems with our lab work, it meant there was a less than 5% chance of a rare condition called Noonan’s Syndrome or a less than 5% chance of having a congenital heart defect. What she didn’t tell us, until we REALLY pushed and at the end of our conversation, was that there was a greater than 97% chance that absolutely everything was okay and we would deliver a perfectly healthy baby. But there was a lot of bullshit that happened in between point A and point B to get there.
One of the things that we were both adamant about was that we didn’t want invasive testing unless it would be conclusive and/or was necessary. Our reasoning for this was simple: there is a risk of miscarriage associated with chronic villus sampling and amniocentesis. For us, this risk had to be weighed against what we would learn from the testing. We were both very clear about this from the start of our session. Well, it turns out that these tests can only pick up Noonan’s Syndrome 65-70% of the time. That is pretty far from being a definitive test. We weren’t interested given the very small likelihood of Noonan’s being an issue (>5%). We communicated this repeatedly, yet the genetic counselor kept pushing it. Robert was livid.
We had a lot of questions regarding Noonan’s – and we are both fairly educated people asking, what I felt, were fairly on point questions. And she flailed about trying to answer them, often times not having an answer. Throughout this process she seemingly referenced a sheet with information on the disorder. Well, it turns out that when we asked for a few minutes to talk things over amongst ourselves and asked for the reference sheet, it was just a prop! It didn’t have the information about Noonan’s and was completely unrelated. I was furious. We were eventually provided with a fact sheet to aid in our discussion- but by that time, I’d already hit the internet and read quite a bit about it. We’d also decided that the risk was so small and the condition was something we thought we could handle, that we wouldn’t terminate even if the test came back positive – and, as we had previously stated, we would not be doing the invasive testing.
The other thing that was suggested was having a fetal echocardiogram done to look for any potential problems with the heart. This is a non-invasive procedure, and helps to identify any potential problems that we would want to be aware of that might affect fetal care, as well as post natal care of the baby. While Robert’s ass was still pretty chapped over the previous conversation, I did think this was an important test to have done, even with such a small chance of a problem, so that we could rule out any potential issues.
Ultimately, Robert went home really pissed at the genetic counselor for how she presented the information. I went home super worried that something was wrong. And we decided to opt out of an amniocentesis but to go forward with the fetal ECG. And this experience is why, I suspect, many people will opt out of genetic testing.
The Anatomy Scan
At 20 weeks we went back in for another detailed ultrasound – this is frequently the only ultrasound a lot of women get throughout their pregnancy. This ultrasound is used to look at make sure that the baby is developing probably. Two arms, two legs, internal organs, etc. This is also the ultrasound where most couples will found out the sex of their baby if they want to know and didn’t have the cell free DNA testing done. Ours was relatively uneventful – other than the fact that our little stinker wouldn’t cooperate and move into a good position to get a profile/facial shot.
We met with the actual MFM doctor this time (much to Robert’s relief), and were told that everything looked great. The Nuchal Fold had normalized, effectively removing the noonan’s risk – and cementing that we made the right decision declining the amnio. They also did not identify any major issues with the heart. She asked us if we would mind pushing the fetal ECG back a couple of weeks to let the heart develop more so that they would have a better look at any minor issues that may exist. All in all, this was a good appointment and we both felt good (and relieved) after we left.
The Fetal Echocardiogram
At week 24 we had our fetal echocardiogram. This is probably the most boring ultrasound! It’s about an hour long, and it all of the heart. The look at all four chambers and they watch how the valves are functioning. They can even observe how the blood flows in and out of the chambers and the valves! Its’s pretty amazing…but also pretty boring. After the ultrasound we met with the same MFM doctor and she told us that everything looked perfect and there were no concerns. We were graduated from there unless my OB felt we needed to go back (I’m technically considered high risk given my age – and probably my autoimmune problems and medication). Spoilers: we are back seeing the MFM (nothing serious!), but that is a post for another day.
Would I Recommend Genetic Testing to Others?
That is actually a very difficult question to answer. For us, we knew from the start that it was something we would be doing given our age and difficulties conceiving. But I also feel that it may not be the right answer for everyone. It really is a very individual decision – and one that each couple needs to make on their own after a lot of thought and discussion. If you know that you wouldn’t terminate for any reason whatsoever, maybe skip it. If you want to know just to be prepared, or because you know that you aren’t capable of the care involved with a special needs baby, then participate. Nobody can make those decisions for you.
The one thing that I will say is that it definitely added a fair amount of stress for a lot of “what ifs”. And the truth of the matter is that much of the genetic testing that you can undergo is simply a series of statistics and guesses – very little of it is absolute. Which is also something that should be taken into account when making the decision on if genetic testing is right for you. I, personally, don’t regret that we participated in it – although I do wish the early meetings with the genetic counselor had gone more smoothly.