March 20, 2015 was the day that changed my life forever. I was 12 weeks pregnant and feeling confident in my pregnancy. In November of 2014, I had an early pregnancy loss. I was only 4.5 weeks gestation at the loss and although I was upset, the pregnancy was pretty much lost before it was had. So achieving 12 weeks of pregnancy was a huge milestone for me and I felt it was time to start celebrating the life growing inside of me. I had been thinking happily about the growing baby for the last eight weeks and getting more and more excited as each day passed. On Friday, March 20, 2015, that joy was shattered. I left work an hour early to meet my husband for our 12 week ultrasound. This was a special level II ultrasound examine the neck of our baby. This type of routine ultrasound is more commonly referred to a Nuchal Translucency Scan. A half a block before we entered the hospital my husband and I stopped at a red light. I turned to him and expressed my anxiety for this scan. Up until this point, my biggest concern was making sure the baby’s heart continued to beat. What if there is something wrong? My husband turned to me, almost frustrated, and told me to stop. He continued explaining that anxiety during pregnancy was the worst thing for our growing first child. I agreed with him and assured myself that I was just being ridiculous. So far, everything has been good!
We entered the hospital and checked in with the receptionist. There was several forms to be filled out prior to seeing the doctor. I was presented with a consent form and offers for other diagnostic testing. According to the paperwork, I did not qualify for other screening tests because I was only 28. I was only 28. So this should mean the health of our baby was safe right? Once the paperwork was completed and after a brief wait, we were called into a medical examination room. I was instructed to lower my pants and to hop on the reclining chair. At this point my excitement for seeing our baby was outweighing any anxiety I previously had. The technicians placed the handheld device on my lower abdomen and started to examine our baby. She remained relatively quiet. I understood that technicians were only able to explain what they were doing and were not allowed to explain anything else; good or bad. As the time passed, my anxiety got the better of me and I asked the technician if everything looked okay. In response, she told me that she told her patients to stay quiet, patient and positive until told otherwise. Maybe this was her typical response? Something didn’t resonate well with me and I continued to look more closely at the screen depicting my bouncing baby. The technician began to take a lot of measurements of the baby’s neck. The measurements look large, but what did I know? The baby was bouncing around and appeared to have all his or her ligaments, what could be wrong? The technicians explained that she needed a more detailed looked and switched the ultrasound machine from other the belly to vaginal. Once again, I didn’t think much of this transition. She continued to examine our baby and upon completion, she handed us several printed out photos of our baby! We were then instructed to remain in the room and the doctor will be in shortly to explain the ultrasound. At this moment, I became more anxious. I turned to my husband and told him that the screen looked funny, that I was concerned. My husband chalked this up to me being anxious and told me to relax.
The moment the doctor walked in, we knew something was wrong. His body language was heavy and took a deep inhale as he entered the room. He took a seat across from us, me still sitting on the medical chair and my husband standing next to me. The doctor leaned forward with his elbows on his knees and his hands joined together by intertwined fingers. He began to speak. He began by explaining that the fluid behind our baby’s neck was abnormal. A normal measurement of this fluid, during this gestational age was no more than 2mm. Our baby had a measurement of 5.2mm. So what does this mean? The doctor continued by giving us statistics. There is an 80% chance that there is something significantly wrong with your baby. 50% chance of a chromosomal abnormality, most likely downs syndrome and/or a 30% chance of a heart defect and or skeletal malformation. He wanted us to schedule a CVS immediately. A CVS stands for Chorionic Villis Sampling. A needled is inserted into the placenta through either the abdomen or vagina to gather cells to test for any abnormalities. Through the entire conversation, my head was in a fog. I couldn’t understand what was being explained to us. My husband, the eternal optimist, turned to me and the the doctor and asked, well this isn’t definite right? There is a chance that there is nothing wrong, right? After taking another deep sigh, the doctor said, well, there is an 80% chance that there is something wrong and a 20% chance that everything is normal. My husband clung to the 20% while I dreaded the 80%.
The next two days were two of the worst days of my life. Being that our scan was on a Friday, at 2pm, during a spring snowstorm, the CVS had to wait until Monday afternoon. We were scheduled to meet with a genetic counselor and then following that meeting, I would have the CVS. During the weekend, my husband, friends and family tried to get me out and about. We met up with my sister and her boyfriend and my best friend and her husband, who were also expecting. Although I was grateful for the company and support, I felt terrible. I couldn’t eat and I couldn’t sleep. My mind kept racing to the ‘what ifs.’ I spent most of the weekend starring off, either fighting back the tears or letting them flow. I debated about taking Monday off work, but as Sunday night approached, I was feeling a little better and thought going to work would be a good distraction. I got to work early. I wanted to get there before the rest of the teachers so I could speak to my boss. After explaining the heartbreaking situation, he told me that he was hoping for good news and that if I couldn’t make it until 12:30, than he completely understood. I made it until 11 before my emotions consumed me and I needed to leave. I left work and headed to my parents because being alone didn’t sound like the best idea. My dad was home and my sister met me there. Together we sat on the couch and mindlessly watched TV to pass the time until we had to leave for the appointment. During the time, I tried to rationalize the upcoming events. Maybe this is all a mistake? Screening tests aren’t always accurate? Maybe the technician measured the wrong thing? This could all be a big mistake. Our baby could be healthy…
When we got to the hospital, we met with the genetics counselor. She began by taking a family history and asking us if there any abnormalities in any of the individuals in our family. Fortunately, both sides of our family have been clear of any abnormalities or known genetic conditions. Following the creation of our genetic family tree, the counselor explained that the fluid behind the baby’s neck was not just localized, it was also down the spine. The name for this type of fluid is called a cystic hygroma. I had come across this name as I was furiously searching the internet for answers over the weekend. There were success stories with this diagnosis. In fact, my sister was one of them, My sister was diagnosed with a cystic hygroma at 7 weeks gestation and an amnio cleared my sister of an chromosomal abnormalities and by 20 weeks, the cystic hygroma had resolved itself. My sister is perfectly healthy and is a NICU nurse at Mount Sinai Hospital in New York City. I was feeling hopeful.
The CVS was not painful. It was uncomfortable. I closed my eyes, held my breathe, and in minutes, it was over. The procedure was successful and in 2 days, I would receive rapid results. I was know if my baby has downs syndrome, trisomy 13, trisomy 18 or Turner’s syndrome. These were the four big abnormalities that were most likely associated with a cystic hygroma. These were also the conditions that had no genetic disposition and happen as unhappy accidents when the egg and sperm meet. If something was wrong, I would rather it be one of these four. I would rather know the worst the sooner than later….
Wednesday, two days after the procedure, we were scheduled to receive the preliminary results. We told our doctor that we wanted to be called after 3:30 when both myself and my husband were home. Around 4:00 our doctor called us. When we answered the phone, we noticed that he was upbeat. He immediately told us that our results were normal and were expecting a girl! We just overcome out first hurdle. Immediately I asked him about whether these results can predict the results of the full CVS. He told me that we needed to wait and just hope and pray that the rest of the results were also normal. We began to celebrate and call our family and friends who were anxiously awaiting our call. We finally felt like we could breathe a little.
The next couple of weeks were a roller coaster. My husband was optimistic and refused to entertain negative thoughts. When I expressed anxiety of concern for the remaining results, he was assure me that whatever it was, we were going to be fine and to think positively. I was beginning to think positively again after our 14 week ultrasound. This was a follow up from the procedure, He quickly looked at our baby and told us that she looked like she should look at 14 weeks., So she has to be healthy right?? At this point we were a week and a half from the procedure, and every time my phone rang my heart sunk to my feet. Was this going to be the doctor? Would he reassure us or devastate us? I continued to talk to our daughter. I would rub my tummy and although I am not religious, I prayed that she would be healthy.
The following Monday, exactly two weeks after the procedure, My phone rang at exactly 2:39pm. The call was from ‘unknown.’ This meant the doctor was on the other line. I took a deep breathe and answered the phone. On the other line was voice was not upbeat. There was a long exhale and my first thought was ‘shit.’ He proceeded to tell me that our results were abnormal and he was not educated enough in genetics to be able to explain them to us. He told us that there was extra genetic material on chromosome 8 and he was unsure what exactly that meant other than it being abnormal. He recommended that I speak to our genetic counselor for further understanding. Fuck.
I remained relatively calm as I dialed the number to our genetics counselor. She answered after one ring. She explained the results to me. Although she had seen extra genetic material on chromosomes before, she was unable to tell us how this would manifest in our daughter. According to the lab, these findings have been seen in individuals ranging from normal to profoundly disabled. She was unable to predict our daughter’s outcome. She advised us to both get tested and to wait for an early anatomy scan at 16 weeks. If one of our karoyotypes displayed this mutation and her anatomy scan looked perfect and that cystic hygroma resolved, than she would be much more optimistic about our daughters fate. If neither of us have a similar karoyotpye, and the cystic hygroma had not resolved, and her anatomy scan showed anomalies than the outcome of our daughter would be bleak…
After talking to my husband and both our mothers, we made the heartbreaking decision to end the pregnancy. We knew that the odds were not in our favor. We knew that there was a strong likelihood that our daughter would not only suffer mentally, but there was a probability that she would suffer structural damage that would cause her pain and suffering. Our decision was made through the love we had for our unborn child. By ending this pregnancy we were giving her the gift of a pain free life. We were going to suffer and mourn the loss of our baby girl so she would never have to feel pain.