Congenital Heart DefectsHypoplastic Right Heart SyndromeStories

I almost canceled the nuchal translucency

I almost cancelled the nuchal translucency

Typically, a nuchal translucency is performed between 11 and 13 weeks. Mine was late, at 13.5 weeks. The fact that the doctor wasn’t seeing what he should be seeing at this late stage alarmed me.

By Morgan

At my first ultrasound, I asked the technician, “Is there a heartbeat?” I breathed a big sigh of relief when she said yes. We had learned from the NIPT that we were expecting a little girl, and we had already come up with a name that we both thought might be a good fit.

I almost canceled my nuchal translucency test

My husband and I were working full-time from home while taking turns watching our two-year-old son. Time was something neither of us had in abundance. Besides, my NIPT test results were normal and I had already had one successful pregnancy. My husband couldn’t accompany me to my prenatal appointments because of the COVID-19 pandemic. My doctor said that while everything would probably be normal, it was best to get the nuchal translucency done anyway. Although I’d never had a miscarriage, I was anxious about that possibility.

“When will I find out my results?” I asked the technician as she got the nuchal translucency scan underway.

“Oh,” she responded, “I can tell you right away.”

“Is there a heartbeat?” I asked.

“Yes,” she assured me, “heart rate is completely normal.”

Again, I breathed a heavy sigh of relief.

She pointed out the various parts of my little girl. “Here is her little foot…there is her stomach…” This went on for about an hour as I gazed in awe at this little person inside of me, wriggling around in my belly.

At the end of the ultrasound, the technician printed some photos for me to keep. “Don’t clean up just yet,” she said. “I need to email the doctor quickly.”

Based on the nuchal translucency scan in my previous pregnancy, this didn’t sound normal. But the technician had assured me throughout the exam that everything was as it should be. Maybe the doctor only wanted to make sure they had all of the pictures needed for my file. The technician sat at her computer with her back to me for what seemed like an eternity. Finally, she said they needed to do a transvaginal ultrasound to get a better look at some things. I asked whether I should be concerned. She said they wanted a better look and that the doctor would be in shortly.

The doctor came into the room

He looked somber behind his mask. They couldn’t quite get a good look at the baby’s heart, he explained before starting the transvaginal ultrasound. The doctor and the technician stood at the computer moving the wand around inside of me and speaking in a language that I could not understand. I wanted to interrupt and ask what was going on, but I knew that they were trying to figure that out themselves.

Finally, the doctor spoke. “We are not seeing what we should be seeing at this stage. I am not seeing both major chambers of the heart, but it is still early. I want to wait and see how the heart develops. I have been wrong before.”

Typically, a nuchal translucency is performed between 11 and 13 weeks. Mine was at 13.5 weeks. The fact that the doctor wasn’t seeing what he should be seeing at this late stage alarmed me. He acknowledged that this was later than average and asked me to return in two weeks for a follow-up appointment. I asked if I could return in one week instead. We compromised at ten days.

“I have been wrong before,” he said again.

“I hope that you are wrong here,” I said. Even then, I knew he didn’t actually think he was wrong.

The ten-day wait was excruciating

My friends encouraged me to think positively, saying the follow-up appointment would show everything was normal. But that wasn’t helpful. I already knew something was seriously wrong and I didn’t want to get my hopes up only to have to begin the grieving process anew. Even still, I had a glimmer of hope that everything really was fine. Maybe the baby was just in the wrong position during the test. Maybe this was just a scare. It’s hard not to hope for the best.

The follow-up appointment confirmed my fears. The right chamber of my baby’s heart never formed. Blue blood was stuck in the right atrium. The tricuspid valve was sealed shut. Meanwhile, the baby’s heart compensated for a single chamber by creating a hole in the left ventricle to allow some blood to pass through the right ventricle and return to the lungs. The baby was able to get enough oxygen in the womb, but, without immediate medical intervention, she wouldn’t be able to get oxygen after birth.

Next, we met with a pediatric cardiologist. Modern medicine is impressive. In-utero surgeries. Heart transplants. Anything seemed possible. Throughout the hour-long ultrasound, the technician commented on “her cute face” and giggled when the baby reached her hand up to her face. How bad could it be if the technician was smiling and humming? Then again, that technician knew I was there because of a serious heart defect. He also knew my doctor had advised me of my option to terminate the pregnancy. Without asking, this technician left photographs of my daughter on my bag while I was in the bathroom getting dressed.

My biggest fear was that we’d be given some vague statistic like your daughter has a 20% chance of surviving age 18, or there’s a 15% chance that, following a series of surgeries, your daughter will be able to live normally. What would we do with such information?

My girlfriend told me, “No matter what you decide, you will end up regretting it for the rest of your life.” That was neither helpful nor reassuring.

My eyes watered

The doctor explained the series of surgeries that the baby would need, beginning immediately after birth. My eyes watered at the thought of our day-old baby in the NICU for five weeks (assuming things went well) without being able to nurse or have any skin-to-skin contact with me. It broke my heart to watch my son have his foot pricked after birth and to watch him get vaccinated. He couldn’t understand what was happening, and I couldn’t comfort him until after the shots had been given. And that lasted only a matter of seconds.

I also wondered what my son would do while his father and I camped out in the NICU for weeks on end. We don’t have any family nearby who could watch him—nor would we want to leave him for so long.

The doctor described the next stages of surgery. “Unfortunately, we don’t have data on the long-term outcomes of these surgeries. These are only palliative. There is no cure.” She told us that kids with Hypoplastic Right Heart Syndrome (HRHS), as we learned it was called, often have behavioral and cognitive issues related to the lack of oxygen to their lungs and to the rest of their bodies. They may be unable to participate in competitive sports. They may be easily tired and have difficulty eating. Depression and ADHD can be common complications. Following the third open-heart surgery, there is often a honeymoon period when things seem normal. But the heart may begin failing in the child’s teenage years (if the child lives that long). At that point, more surgeries or a heart transplant may be needed.

Could we do this?

As we listened, we thought, we can do this. It will be difficult, but we could do this. One of us would need to quit our job to provide the needed care, which would be financially tough, but
we could do this. It would be hard for our son, but we could do this. And maybe by the time our daughter was a teenager, there would be better medical options available for her.

I have always been staunchly pro-choice. It is not my place to judge other people’s decisions about their bodies. Everyone is doing their best to make the best decisions they can. But I didn’t consider abortion an option for myself, especially after having my son. As a teenager and in my twenties, I had argued that a fetus isn’t a life until after birth but my pregnancy experience belied these claims. To me, this little being in my womb was certainly a life.

A clear answer

A friend suggested I ask the doctor what she would do if she, her sister, or her loved one was facing this difficult decision. As soon as I asked, the doctor’s demeanor changed. The medical technicalities, those vast unknowns, were set aside. She looked me squarely in the eyes. “I see what kind of lives these children live. There is so much suffering. Many heart issues are very treatable. This particular condition is the worst of the worst. I’ve seen it tear families apart. Just because there are medical interventions that can be used doesn’t always mean that they always should be used. If it were me, I would not give my daughter that kind of life.”

We weren’t expecting so clear an answer. I couldn’t be more grateful to our doctor for giving us peace.

“No matter what you decide,” she said, “know that you are making this decision out of love. Love for your daughter, love for your family, and love for your son.”

After many sleepless nights and tears, made the decision to end the life and suffering of our daughter who we wanted very much. We made this decision because we believe it is merciful. It was the best decision we could make for our daughter, and for our family, given the information we had.

We made our decision out of love.

 

Photo by John Tuesday on Unsplash