A letter to parents facing an early diagnosis of cystic hygroma in a pregnancy
Updated: Apr 28
After scouring the internet for medical papers with potential or positive information, you may find yourselves faced with depressing and confusing statistics and a bunch of new words and medical conditions. When I was in your position, the thing that helped me the most was finding another parent’s story, and with that in mind I wanted to share with you my own story. It is written in my own words as I don't speak for my partner.
I’m not sure where to start our story because the truth is that it started long before this, but skipping over previous devastating loss, I think the main thing is to say is that our baby was very much wanted and very much loved. The first 12 weeks of pregnancy were physically exhausting, but overall, we were happy in our secret little bubble. I had just started to feel slightly human again and we went for our 12 week scan. Due to a previous miscarriage, we had two private scans so by the time our delayed official scan came I was just allowing myself to stop dreading scans and I woke up with the intention to enjoy the scan.
The sonographer found the heartbeat but didn’t show me the screen. The scan felt brief and without joy as we waited for the sonographer to talk. She stated that there was something wrong with our baby. There was too much fluid around the baby’s neck but she said she was not trained to go through results with us – a midwife would talk to us. We were directed to wait in a small consultation room where after a few minutes a midwife joined us. She explained that the amount of fluid might be a “cystic hygroma” but they weren’t sure. She said it could be a chromosomal issue, like "much more severe than Down Syndrome", but she wasn’t sure. She said she wasn’t qualified to answer our questions and that she would arrange for a specialist scan – an “anomaly scan”. She wasn’t sure when the scan could take place. We asked questions and they were mostly met with 'the sympathy face' and a statement indicating that they couldn’t answer any questions.
I went to the car and sobbed. My grief felt singular. What does that mean? I mean that it didn’t feel anything apart from overwhelming emotional pain. It didn’t feel like shock. It didn’t even feel like heartbreak. I felt that if I had allowed myself to feel it, I would have felt my soul break, so after sobbing in the car I quickly disassociated. This was how I had always survived nightmares.
I had already raced through the bargaining aspect of grief and by the time we had the delayed anomaly scan I was firmly into denial lead by hope. The consultant gently removed every ounce of hope and as I listened to our options. The cystic hygroma was measuring large, at 7.9mm and surrounded the baby’s neck, spine, and down to their hips. The consultant said that due to the size and how early in the pregnancy it had formed, that it was likely to be very severe. We could have an amniocentesis, a micro array and maybe a heart echo (I can't remember) and that if those results all came back with good news, we would then face less than 5-10% chance that the baby would survive the pregnancy, and if they did survive the pregnancy, they would likely have significant physical and mental disabilities, and the doctors would have no way of knowing what those difficulties would be.
She said it was very unlikely to happen again in another pregnancy. She said it was statistically bad luck. She explained that most women choose to end the pregnancy. I felt hot tears burn my skin. She asked me if I wanted to hear about that and I agreed. She stated that abortion was legal in this country and I felt a surge of relief and anger that other parents would face this painful situation without that option because more than anything I felt an indescribable sadness for my baby in the quality of life they would likely have if I continued the pregnancy. The consultant described giving me a pill, and two days later going into hospital for pills to be put in my cervix to progress the termination.
We initially said yes to the amniocentesis and tests, desperate the sliver of hope that in the event the results did come back in our favour, we could then have a 10% chance that our baby would survive against the odds and be healthy. I spent the next few hours or days reading as much as I could. The scientific papers were clear, our baby was likely to die in later term pregnancy, during birth and possibly in infancy due to health complications. If the baby survived, they were likely to experience significant physical and mental difficulties. One paper highlighted that due to my age the odds were less than 10% of the baby surviving the pregnancy and being healthy. When mothers are in their 20s, the odds are closer to 10%. When mothers are in their 30s, the odds for a healthy baby with a cystic hygroma at this stage are halved. (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440340/
Even through the disassociation I could feel my heart splitting as hope seemed hopeless and unhelpful, trapping us in a state of bargaining, "what ifs" and "maybe's". After reading the scientific papers I took a tour of personal accounts. I found the majority were from America and had a significant religious undertone that made me question if I could trust them. I felt truly isolated until I found this piece: https://endingawantedpregnancy.com/no-known-cases/
After reading this I decided that I didn’t need to know what chromosome was missing or duplicated. It would mean nothing to me to be told it was chromosome 7,3 or 11. These were just numbers. I also felt like I was on a slow park ride, stuck along a path leading towards an inevitable ending. Both my partner and I felt the doctor had very much directed us towards ending the pregnancy and though neither of us wanted to be coerced into a decision, I also felt strongly that the doctor had the baby’s, and our, best interests at heart. My blood tests had already come back to confirm a low likelihood of Down Syndrome, which meant the baby was likely to have very significant issues. I cancelled the amniocentesis. And after a few more desperate phone calls to the consultant for information or a scrap of hope, we scheduled our abortion.
I found it incredibly difficult that even if we had subjected the baby to all the tests available, we still would not have a definitive diagnosis and once we left the consultant’s office, all the midwives we spoke to were unable to answer our questions. We struggled to comprehend the happy baby that we had seen, dancing and waving in our early scans, to the scientific evidence that the baby would have such physical and mental difficulties. I will go into the details of the abortion in another post, but just as a side note in case you choose not to read about the abortion, when the baby was born, we could see the impact of the cystic hygroma more clearly, though I must say our baby was beautiful.
If you are reading this because you are in a similar situation, then I am so sorry you are going through this. I hope that you can take comfort in knowing you are not alone. As parents, only you can make the decision that you feel is best for your baby, whatever that decision is.
Much love to you,
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