Heartbreaking Decisions

So what now, you might ask? Well the preliminary amnio results were due back 3 days after the test. The lab would do a FISH test. FISH stands for fluorescent in situ hybridization. FISH testing is a relatively new cytogenetic technique that allows a cytogeneticist to determine how many copies of a particular chromosome are present without having to go through all of the steps involved in producing a karyotype. For example, FISH analysis can quickly tell you how many number 13 chromosomes are present, but it cannot tell you anything about the structure of those chromosomes. In our case that is what we needed to know. Was there an excess of the 13^th chromosome in the baby’s DNA. The final results which would be the full karyotype of the chromosome including the structure would not be available for at least 7 -10 days as the cells had to be left to grow.

In the meantime we discussed our options and made our plan A., plan B., etc. Now this is where our story gets to the point of major decision that no one should ever have to go through. Do you carry the baby to full term and hope it can live for a few days, weeks, or months? Or do you terminate the pregnancy to save the baby from suffering if it does make it to full term?

 I think my husband and I made this decision on what we would do depending on the results we were given after the testing the first night after learning about the possibility of the trisomy 13. We had gone into the original screening test saying we wanted to know if there were any problems ahead of time so we could plan accordingly. We bot are engineers who are very scientific and know that advanced in modern medicine have been huge. We determined we would be part of the population that utilizes the advanced testing regardless whether we were “at risk” for anything or not. I t was covered by insurance it was a “no brainer” to us. Never did we imagine we would be one of those couples that were given heartbreaking information that would make us choose.  

We knew that carrying a trisomy 13 baby to full term was already not likely. We knew even more that bringing a trisomy 13 baby into the world was not going to be much of a life for the baby. We didn’t want to bring our child into this world just to suffer. We wanted this baby so badly and we had gone through a lot to even get to this point. But we knew we had to follow our heart if we did receive the some of the worst news that any parent could possibly receive.

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.