Grief and Growth: Termination for Medical Reasons for Trisomy 21

I was foolishly confident that I was out of the miscarriage ‘danger zone’.

I was pleasantly surprised, as an anxious person, at the positive test after 3 months of trying. I was nauseous and dizzy in my first trimester, which looking back, I feel was probably an early sign that things weren’t going well. We had our first ultrasound at 12 weeks. I was again pleasantly surprised when we saw a heartbeat and we were told that the baby was growing well. We had told our families prior to the ultrasound, but afterwards we finally told my friends and work, foolishly confident that I was out of the miscarriage “danger zone.”

My obstetrician wanted me to wait until 13 weeks to have the NIPT done so one week later, when I was officially in my 2nd trimester, I got the results as I was falling asleep. At first, I could not believe what I was seeing. I ran to scholarly articles about the accuracy of the NIPT for down syndrome. When evidence wasn’t enough, I turned to reddit to see if I could find stories of false positives. Everything I read indicated that false positives were rare, but I thought, “I will do whatever it takes to support my son.” I told my husband when he got into bed and he knew immediately he wanted to terminate. I was surprised and conflicted at how quickly and confidently he had made that decision. I stayed up the rest of the night researching outcomes. And crying. I wanted this child deeply, but I was so scared for what his future would look like, and for what it meant for my marriage.

This was not just a matter of doing everything I could for my child.

The following day I called a mentor who was also a mother. We talked about what it would mean to have a child with a significant disability. This conversation forced me to think about support, finances, resentment, and what would happen if either of us died, especially me. We have no family nearby and financially being a stay-at-home mum would never be an option. This was not just a matter of doing everything I could for my child. That night my husband and I talked further and we decided that if the diagnosis was confirmed that we would most likely terminate. However, the following night I was looking at images from his ultrasound and saw something that I hadn’t noticed before. I sent the image to my OB for her input, but I knew with absolute certainty that it was a cystic hygroma, that our son had trisomy 21, and that it would most likely be a severe form.

Because I was 14 weeks when we received the NIPT results I had to wait two tortuous weeks for the amniocentesis. The appointment started with genetic counselling followed by an anatomy ultrasound. As the tech completed the imaging, I saw the large cystic hygroma swallowing his neck. My husband later told me that he could feel how wrong things were by the way the tech and I were acting even though she barely spoke. The doctor then came into the room, sat down, and said, “I don’t like what I’m seeing. I can tell your child has down syndrome just from the ultrasound. You know the children that you see with down syndrome walking around? That won’t be your child.”

“I woke up in recovery, and I could feel that his weight was gone.”

The ultrasound had shown a large cystic hygroma, echogenic bowel, echogenic right kidney, and pyelectasis in the echogenic left kidney. They were unable to get a good image of the heart and lungs. We did not pursue amniocentesis and chose instead to do genetic testing after the termination. My D&E was scheduled for 1 week after the ultrasound on October 16, 2024. When I woke up in recovery, I could feel that his weight was gone. It was a whole new depth of grief and guilt that I had never felt before.

No amount of running, journaling, yoga, therapy, or trips to Europe will ‘fix’ me.

Several months later it still feels like my breath has been knocked out of me and no matter how deeply I breathe I can’t catch it again. I have realised that no amount of running, journaling, yoga, therapy, trips to Europe will ‘fix’ me. I am broken and always will be scarred. But I also recognise that parts of me will come back stronger, and already have. I am a better healthcare provider than I was before, and a more conscientious and communicative partner in my marriage.

I share my story because during my TFMR I felt like no one truly understood what I was going through. I felt isolated despite heroic support from my family and friends. If just one person reads this and finds similarities in our pain, then that is one person that may feel seen in their heartbreaking journey through TFMR.

And for my baby in the sky, James, I also share this story for you.