I don’t know why I have taken so long to write about this. Maybe because I wasn’t sure I wanted to write about it at all, maybe because it seemed more personal than anything else I had written in this journal so far, maybe because I was in denial and pretending that none of it was happening, maybe because I didn’t want to look back and remember any of this part, maybe all of the above. Whatever the reason, I wasn’t sure I wanted to share this part of our journey. However, I also want to make sure I document this entire pregnancy and don’t leave a single thing out, and maybe just maybe it will help someone else who finds themselves in my shoes…so here we go…
A couple months ago during our 13 week appt, I decided on a whim to do the sequential blood work screening test that is now offered with all pregnancies. I didn’t really know much about it (they didn’t offer this to me when I was pregnant 11 years ago), other than the pamphlet they had given me at my previous appt, all of which I read. I also referred to Dr. Google to see what other’s were saying or had experienced with the test. Basically it is a blood work test that will assess your risk for a few conditions. They screen for Trisomy 13 (Patau syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 21 (down syndrome). Based on what I had read on Dr. Google, Mr. B and I had pretty much decided not to do the testing. I had read about too many “false positives” that came back after this test. I have “false positives” in parentheses mainly because you can’t really get a false positive with a risk assessment test. Since it’s not a diagnostic test, it only gives you a ratio of what your risk is for certain things. However, I read that a lot of people receive results showing they have a high risk, and things turn out to be fine. Unwanted stress and worry…um no thanks…we’ve endured quite enough of that over the past 3 years of trying to get to where we are now, finally pregnant and expecting our miracle. We decided we wanted nothing to do with this added worry.
As I was sitting in my nurse intake appt (without Mr. B), they asked if I wanted to participate in this screening. I asked again what it would entail and how much it would cost. I should have just said no like I had originally planned. The nurse told me that it would be a simple blood test followed by a 45 minute in depth ultrasound. The results of these 2 things combined would give us the results. The cost was $135, but would also count towards our deductible. And since we are certainly going to hit our deductible this year once we go through the cost of giving birth, it would be like making a payment towards our deductible. She didn’t have to say anymore. She had me at “45 minute in depth ultrasound”. Even though Mr. B and I had decided not to go forward with this test, the thought of another chance to see my baby girl was enough to change my mind. It was like a rotisserie chicken dangling in front of a starving child. I heard ” in depth ultrasound” and I had no self control! So what did I do, I caved and changed my mind last minute, without Scott’s approval. Later when I got home and told him, he reminded me about all the wrong tests we had read about and rolled his eyes at me. He knew the last thing I needed was some other reason to worry during this journey and especially during this pregnancy. As always, he was right!
We had our first trimester blood work done over a month ago and the results came back just as we knew they would. Something else to worry about. My risk for T21 came back at 1:120. Although this is technically a negative screening (1:100 or less would mean screen positive), it was still way above what it should have been for my age bracket. For age 32, my risk for having a baby with T21 should have been 1:769. And even though 1:120 was only like a .5% chance, it was still a little alarming to be so far away from my age related risk. The reason that my blood test came back with those risk results was that my HCG was high (in the 95th percentile) at 2.1 and my PAPP-A was low (in the 95th percentile) at .45. They like both of these numbers to be close to 1. Also, the pattern for T21 babies is a high-low pattern in correlation with HCG and PAPP-A. Unfortunately, my numbers followed that high-low pattern to a tee.
Following the blood test results, we had something called an NT scan. This is where they perform an in depth ultrasound (the whole reason I opted for this damn test in the first place) and look at the fluid behind the neck. From everything I had read, a normal NT reading would come in at under 3 mm. During my NT scan, they measured the fluid at 2.2. Seems good right?! However, the perinatologist said that they like to see the results closer to 1 and definitely under 2. He said that if the results of the NT scan had been better, it would have reduced my risk assessment. But instead, since it was on the higher end of normal, that paired with my blood work, and creeping advanced maternal age (33 at delivery) my risk stayed at 1:120. Figures. We knew this would happen…again…just something else to worry about. At this point I had wished that I hadn’t been so damn greedy for another ultrasound. I mean, really, up to this point I had like 5x the amount of ultrasounds that a regular pregnant woman has had. But no, it wasn’t enough. I just had to have another. Worst decision ever.
I had to wait 4 more weeks until my next blood draw and ultrasound. It was SUCH a long wait. They actually called me 2 days before my ultrasound was scheduled and told me that my blood work came back early and they wanted to see me the following day based on my results. I was so scared to ask. At the second blood draw, your risk can go one of two ways. Typically, your risk either greatly decreases or increases. Of course we were hoping for our risk to greatly decrease to the point that we would need no further follow up testing. Well, the opposite was true…ours greatly increased. After the second blood draw, our new risk assessment for T21 was now 1:40. HCG came in at 2.28 and PAPP-A came in at .70. Again, both should be close to 1. The nurse wanted to move my appt forward and have Mr. B to come in the following day for an in depth ultrasound with a perinatologist to look for both hard and soft markers for down syndrome. She also wanted us to meet with a genetic counselor before the ultrasound to go over the results and discuss our options. I burst into tears at the news. How could this be happening? Would God really have us go through all this over the past 3 years and then not give us our perfect and healthy baby that we had so dreamed of? I kept reminding myself that a 1:40 meant that there was still a 97.5% chance that our baby was healthy, but I couldn’t help but feel petrified and even a little angry about that 2.5%. That night I researched all I could about hard and soft markers for down syndrome so that I would be prepared for the ultrasound the next day. I wanted to know exactly what he would be looking for and needed to be knowledgeable about what to ask about.
The ultrasound and anatomy scan went really well. Not perfect, but good. Out of 4 hard and 8 soft markers that they look for in down syndrome cases, the perinatologist found only 1 soft marker. A soft marker could be a sign of a problem, or it could not be. It means that they see the marker in both T21 ultrasounds and perfectly normal pregnancies. Hard markers are something that they don’t typically see in normal healthy pregnancies. Something like whether they see the 4 chambers of the heart would be a hard marker. Our baby had no hard markers (thank God) and just this one soft marker. The soft marker found was labeled as a “mild ecogenic bowel”. This meant that the bowl area looked a little whiter than the rest of the abdomen. He said that it wasn’t severe and could very well be a normal variant (especially since I had bleeding early in pregnancy, in which case the baby could have swallowed some blood, which would be what he was seeing in the ultrasound) but based on this finding, again, he couldn’t change our risk. We were still at 1:40. He did however also note that I had a “robust” placenta which he said could be the cause for my high HCG numbers (this high HCG was what was really driving the screening results in the wrong direction. This would also explain why my HCG was so high from the get-go. Remember how high my first beta was? Well over 400) , as well as a cervix that looked like “Fort Knox”. Mr. B and I both laughed at that and I said something to the effect of, “yeah right, you say that to all the ladies :-)”. Way to lighten the mood Dr. M!
Here’s a picture from our anatomy scan ultrasound. Little princess is already waving “hi”.
After the ultrasound, we met with the perinatologist and the genetic counselor to discuss what our options were. We could do any of the following:
1) Nothing – just continue along with pregnancy and find out at birth if there was indeed a chromosomal issue.
2) Have an amniocentesis – This is a diagnostic test that is performed by placing a needle through the stomach, into the amniotic sac and retrieving fluid. This fluid has the baby’s DNA floating around and can be analyzed. This would tell us with 99.6% accuracy if there was a chromosomal problem. An amnio also doesn’t come without risk though. There is a 1:300 chance for miscarriage following an amnio. This is the one the genetic counselor kept going back to and pushing for us to do.
3) Have a new blood test performed (called Maternit21 or Verinata) that has a 100% detection rate for T21, and a 99% detection rate for T13 and T18. However, it is a fairly new test so their sampling is not very large. Last year, they had 500 people’s blood drawn and analyzed for T21. Out of those 500, here were 91 cases of T21 found. Out of those 91 cases, all 91 were accurate. The remaining cases that came back negative were also accurate.
The funny thing was, the genentic counselor didn’t even give us option #3 until we asked about it. She was pushing for us to have the amnio done and said it was the only diagnostic test and the only way to know for sure whether the baby was healthy or not. Scott and I already knew that we were not going to go with the amnio, but it was sure intimidating being in a small white room with not even a single picture on the wall (what’s up with that) and having a genetic professional tell you that this is what needs to be done. We even almost felt a little bullied, like we had to make a decision today and there was really only one right decision. Even though the risk of miscarriage after an amio is super small at 1:300, were not willing to take that risk. I mean, geez, we have gone through so much to even get to this point, to even get pregnant. The thought of putting that into jeopardy, no matter how small the risk, it was still too big a risk for us to take. Scott was leaning towards option #1. He wanted to do nothing. He really felt as though nothing was wrong with the baby and he just wanted to forget about the whole thing and move forward. I really think one of the main reasons he wanted to go with option #1 was also because the blood test was not covered and would be completely out of pocket. At $500, it was not just pennies and definitely something to take our time considering. I on the other hand knew I had to go with option #3. And thank God I had done my research and was on lots of Baby Center boards that had talked about this test so that I even knew about it. Like I said, it didn’t even become an option until we brought it up. Maybe they aren’t allowed to talk about it as an option unless the patient brings it up? I have no idea. All I know is that it wasn’t an option laid out onto the table for us initially but then suddenly it was. This amazed me. I mean, I understand that the test in new and that it is not even FDA approved yet, but it is still an option and is super accurate. Why wouldn’t they offer this to everyone? Especially someone in my condition who has undergone multiple surgeries, IVF, and years of TTC. I mean what if I have adhesions and things from my surgeries that would complicate an amnio and put me at risk more than the average person? Don’t you think they would take this into consideration before pushing an invasive test on patients? The amnio was out of the question, I wanted (no needed) the blood test done. I just needed to know. Even though we had discussed and knew that we would not terminate the pregnancy no matter what the results were, I just needed to have an answer so I could move forward. I couldn’t imagine going the rest of the pregnancy (an entire 20 more weeks) wondering if or if not our baby had down syndrome. I needed to know so that I could prepare myself mentally for the road ahead.
We decided to do the blood test through Verinata called Verify. It was a simple blood draw that they took from my arm…just like the hundreds of others I have had taken on this TTC journey. They said that it would be between 7-12 days before I got results and the genetic counselor would be calling me personally with the results. Let me tell you, this wait was even harder than the 2WW, if you can imagine that. Today is day 12, and after that excruciating wait, we finally got the call this afternoon. God once again was showing me patience, faith, and getting me on my knees in prayer every single day. I think it was about day 10 of waiting on results where I just burst into tears and handed it over to God. I told Him that I needed Him to carry the burden, because it was just too much for me. I suddenly felt peace. I knew that whatever that phone call brought, that He would get us through it. And that He has.
The phone call was everything I was hoping for. As soon as the genetic counselor said, “I have good news” I was sobbing big crocodile tears of joy. Baby girl tested negative for T21, T13 and T18, and something called chromosomal displacement. Although the only one we were really concerned about was the T21 (since that’s the only one I tested high risk for), it was nice to hear it was negative for all the rest as well. After the call, I ran into Scott’s arms and just cried. It felt so good to finally let it out. I have tried to be so strong for both of us the past couple weeks. It felt so good to just become mush in his arms and not have a single worry running though my mind. Nothing else mattered. Our baby girl was healthy! I then rushed to the bathroom, got on my knees and thanked God over and over again for this blessing. And although we understand that the blood test is not considered a diagnostic screening, and there could always be some type of something that goes undetected, the fact that the blood test was successful in diagnosing 100% of T21 cases last year makes me pretty darn confident that our baby girl is healthy as can be! What an amazing miracle!!!
We just got back from celebrating! The celebration included authentic Mexican food (which I have been craving) consisting of 2 beef tacos, beans, and rice. As well as our first official purchase for baby girl. I’ve bought a few things for her room already, but nothing other than furniture and some room accessories. Here is what we got her today. The little owl beanie I ordered from Etsy and the outfit is from TJMAXX.
As for what I have learned…I will NEVER do this screening again. I am pretty positive this is my last pregnancy, but if I am ever blessed with another, I will not have the sequential screening done. If I want to make sure everything is chromosomally normal, I will go straight to the MaterniT21 test. And anyone else thinking of doing the sequential screening, I am going to do my best to talk anyone who asks me out of this test. Unfortunately there are so many readings and false positives (or high risk assessments) that cause unnecessary stress. And having to meet with a genetic counselor and talking about all the what if’s…it was one of the worst things I have ever been through. And with the stress of pregnancy (especially pregnancy after infertility) it is just another stress that is not needed. I wish I could take back the past 4 weeks of pregnancy and re-do them. Re-do them without the worry and waiting that I put on Mr. B & I. From here on out…no more worry! And no more tests!!! I am just going to trust God and enjoy every single moment of this pregnancy!