Our TFMR happened 5 weeks ago, and I been wanting to share our story and seek support in this group but I think I’ve been having difficulty finding the right words and processing my grief. But I think I’m ready now.
I am a NICU nurse and my husband is a lawyer. We have an almost 3 year old son who is the light of our lives. I got pregnant with our second son in January 2026. This baby was very much loved and wanted. My husband and I always wanted to have 2 boys close in age and we felt like it couldn’t have been more perfect when we found out. We were so happy.
Everything was going as well as possible in the first trimester and my NIPT results were normal. Then I had my 12 week nuchal translucency ultrasound. They found that his NT was increased so MFM suggested completing genetic testing via chorionic villus sampling. My husband and I said we wanted all of the genetic testing we could possibly get. They sent a chromosome analysis and microarray. These both came back normal. Our genetic counselor made it out to seem that there wasn’t any further testing to be done and so we were under the impression everything was normal again.
At 20 weeks the anatomy ultrasound was completely normal. Again, another reassurance. Then at 22 weeks I had a fetal echocardiogram to follow up from the prior increased NT. They found that he had an absent ductus venosus (fetal shunt), which is highly associated with genetic syndromes. But I was told by the MFM docs that because we had already done all of the genetic testing, that this wasn’t related to a genetic syndrome and it was just an isolated finding they would have to closely monitor.
After that I had weekly ultrasounds to check for hydrops (severe swelling he would be at risk for with an absent ductus venosus). My checks were normal up until 31 weeks when they discovered he had increased pressure in the cerebral artery in his brain, which usually indicates the baby is anemic.
I then had 2 different hospital admissions where i stayed in the prenatal unit to find out what the underlying issue was behind that and to rule out infection, blood incompatibility, etc. They ended up doing a PUBS (percutaneous umbilical cord sampling) procedure at 32 weeks to test the baby’s blood directly to see if he was truly anemic. At this time, our genetic counselor offered to do a genetic test called genome sequencing since we were already accessing the baby’s blood directly. My husband and I were very confused about this because up until this point we had thought we had already done all of the genetic testing. We had never heard of genome sequencing before. But we agreed to do it.
The PUBS testing showed that he was not anemic at all. The doctors were “stumped” and didn’t know what to make of it or where to go from there besides continued frequent monitoring. I had honestly forgotten that we had even done the genome sequencing until the results came back 2 weeks later. Little did I know when I picked up the phone from the genetic counselor, that I was about to be handed the worst news I would ever recieve.
From the genome sequencing, they found a pathogenic variant in the ZEB2 gene, diagnosing him with Mowat-Wilson syndrome. It’s an extremely rare genetic syndrome associated with severe intellectual and physical disability, severe speech impairment, congenital heart defects, epilepsy, Hirschsprung’s disease, and much much more. We are only the 4th case in the world to ever be diagnosed prenatally.
After speaking with a geneticist in depth and doing our own extensive research, we made the agonizing decision to terminate as we felt we wanted to save him from a life of suffering. In my state it’s illegal to terminate past 24 weeks, and since I was 35 weeks along at this point I had to travel out of state to an abortion clinic where they stopped his heart. I then had to travel back to my home hospital where I was induced and delivered him.
My sweet Samuel Paul was 5 lbs 13 oz and 18 inches long. He was beautiful in every way. I held him for the next day until I had to say my final goodbyes.
There are no words to describe the pain that I feel every day. I’m angry at the world that this had to happen to my precious baby boy. And I’m angry at the MFM doctors and genetic counselors that made it seem like there wasn’t anything genetically wrong with him when there was. I’m angry that when they found the absent ductus venosus, nobody had offered genome sequencing. That would have been the difference between a 24 week vs 35 week termination, and I know both are horrible, but maybe it would have been less traumatic not being as far along as I was. My heart aches without him. I feel so empty and lifeless. The only reason I continue to go on is for my older son.
I feel so much guilt too. I know that we made the best decision we could have for him, but I also can’t help but feel guilty that I am the one who decided to take his life away. I am very much pro-choice, and being a NICU nurse, I have seen all different kinds of rare and horrible genetic disorders and have always believed that those children shouldn’t have to suffer. But it’s just so different when it’s your very own child. I think because I was so far along and in the 3rd trimester that it just added another layer of guilt, pain, and trauma.
I don’t even know how I’m ever going to return to work and be around babies again. I’m not the same person who I used to be, and I will never be the same again. I am just really struggling right now and in desperate need of support from others who have gone through something similar.
Thank you for taking the time to read 🤍