It's not just about the gender!

I get it. Once you find out your pregnant you initially are super excited and wonder how life will change. You then start wondering what the gender is, what you’ll name the kid, and how you’ll decorate the nursery. I understand pregnancy is exciting, well for most, but is also one of those things where so much has to go right it is sometimes amazing to think about how many people are on this earth! Yeah you’re right most couples do not even ever let this thought cross their mind but if you have been faced with heartbreak and realize things don’t always go as planned you can’t help to think about it.

Most couples once they get past the 12 week mark and tell their family and friends their expecting the next question people ask is “are you going to find out the gender?” These days this is a typical practice. Not many parents or anyone who knows the baby is surprised at the time of birth of the gender or name for that matter. Yes, I understand why one would look forward to the 20 week ultrasound but what people don’t realize is that this ultrasound is not performed for the sole reason of finding out the gender of their baby. The priority of the ultrasound is not for finding out the gender nor is that a requirement.

The 20 week ultrasound is actually referred to in the medical world as a level II 20 week anatomy scan. The purpose of this very important appointment is to look at all the anatomy of the baby. There is an entire list the ultrasound technician is taught to follow and check out. They look at the heart, brain, kidneys, stomach, hands, feet, leg bones, arm bones, etc. They make sure the locations of the organs are on the correct side of the body. And lastly if the baby is in a good position they will look at the exterior sex organs.

The reason they look at all of these items of the body is to pick up any potential soft markers that might indicate a problem with how the baby has grown. Coming from a pregnancy where I had a level II ultrasound at 15 weeks for the sole reason of looking for soft markers and then an amniocentesis, I can’t say I have been in a normal 20 week anatomy scan but what I can say is that every new area the ultrasound technician looks at in the future I’ll be holding my breath just waiting for their response on whether it looks normal or not because who am I kidding I can barely make out the basic anatomy of the head, rump, arms, and legs of an ultrasound photo.

So to all my friends I’m super excited for you and your new little one on the way but regardless whether you decide to find out the gender (props to all of you who don’t, I don’t think I could do that!) when I ask how your 20 week ultrasound went I don’t want the first thing out of your mouth to be to be “it’s a girl” or “it’s a boy.” I’m asking because I have been one of those women who have sat there watching soft markers show up on the screen. I have also been there hearing stories from friends who went into that scan hoping to confirm the gender and walking out not even knowing or caring because of what else was discovered. I want to know everything is looking good with your little bundle of joy because I worry for everyone whether they worry themselves or even know I think about them often. In my book, the first thing I want for everyone is a healthy baby regardless of the gender including for myself although I understand you can want one gender over the other. I cannot deny I have those preferences as well but only after clean bill of health of course! So please tell me everything looked great and then tell me the gender (if you found out) so I can start planning a creative baby gift! 

A word of caution to anyone in the future who asks me “what I’m having” after my 20 week ultrasound, I will not reply girl or boy whether I know or not and regardless whether my husband and decide we will share the gender news with friends and family. I will simply reply “it’s a puppy.” :) 

Ultrasound and Amnio

At this point we have had an ultrasound at 6 weeks, 8 weeks, 10 weeks, 12 weeks, 13 weeks and 4 days, and now at 15 weeks and 2 days. This baby might be the most photographed baby in the world. What we never expected was that this day in our life that everything would change.

The ultrasound first started with the technician looking at all aspects of the baby. If she saw anything alarming, she didn’t share with us .The doctor then came in started to navigate her way around the baby as well. She noticed something did not look right with the nose. To the naked eye it appeared very large. I my mind it looked almost like a rounded bird beck. I knew something wasn’t right. The doctor decided to perform a 3D ultrasound to get a better look.

The result of the 3D ultrasound was one of the two images I wish I could get out of my mind. Looking at the baby from the front profile was quite disturbing. Something was absolutely not right with the nose and mouth. It very well could have been a cleft palate but it was too hard to really determine exactly what it was at this point in time. I this point my heart started to race. I knew things were not looking great for the diagnosis.

At this point we definitely wanted to proceed with the amnio. As the doctor and ultrasound tech prepared for the test I was just ready to have this procedure over. I knew it was going to consist of a large needle being inserted into my stomach and probably some intense cramping. I was nervous but knew this was something I would have to just get through. Just like everything else thus far in our journey of creating a family.

I had decided that I did not want to see anything that went on during the procedure so I placed the scarf I wore that day over my face and just tried to control my breathing to help myself relax. My husband has prior experience with fainting after giving blood and was unable to watch me give myself shots during fertility treatments so he decided to turn his chair towards the corner until the procedure was over.

The second image I think I will vividly recall for a lifetime is what we saw after the procedure was done. The doctor needed to monitor the baby’s heart rate and movement to make sure nothing occurred during the procedure. While this was happening we got a closer look of the hands. They were not clenched but there indeed were extra fingers on each hand. In between the intense cramping from the procedure and the new found soft marker that was discovered I was not feeling well. As soon as the doctor felt the room I fell to tears. I was in so much pain physically and emotionally.  We knew the possibility of the baby having trisomy 13 was unfortunately very likely at this point.

Once we were done at the hospital I was very glad my husband and I had driven together. I don’t think I would have been able to drive home solo with the pain I was in. We hadn’t eaten any lunch so we stopped to get some food on the way home. We spent the rest of the night hanging out and resting. I of course did a lot of googling and thinking about all the what ifs moving forward. 

Learning things we never thought we would before.

At the genetic counselor’s office we were explained the science of trisomies and the calculated risk for our situation. We originally thought that the screening test meant there was a pretty much 100% chance we had a baby with trisomy 13. She explained that in fact based on my age upon conception, the age I would be at delivery, and the gestational age of the baby our risk was actually only about 1 in 6 or 14%. Hearing this statistic helped us a bit but we knew we wouldn’t be for sure until we went through the level II ultrasound and then the amniocentesis.

The level II ultrasound, which most pregnant women have done around week 20, would be a very detailed ultrasound that looks at the anatomy of the baby. At this time I was only 15 weeks and 2 days but we were hopeful the ultrasound would be able to confirm or deny any of the trisomy 13 soft markers such as polydactyl (extra fingers or toes), clenched hands, clubbed feet, cleft lip/palate, heart defects, enlarged kidneys, and neural tube defects.

The amniocentesis (amnio) is prenatal test where a small amount of the amniotic fluid is removed for testing. The sample of amniotic fluid is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for a full chromosome analysis. The amnio can be done between after 15 weeks. The accuracy is about 99.4%. There is a small risk that an amniocentesis could cause a miscarriage (less than 1%, or approximately 1 in 200 to 1 in 400). But at this point the risk of having the amnio done was less than the risk of us having a baby with a trisomy so we knew we had to go through with the testing. 

We decided to proceed with the ultrasound and then based on those results we would then get the amnio done following the ultrasound.