Late Termination due to chromosome abnormalities.
My husband and I had been trying to conceive for about 7 months when we found out I was pregnant with our first baby.
Everything was going great and our baby always looked healthy on the ultrasounds. At 12 weeks we did a nuchal translucency screening and our odds of Down syndrome or trisomy 18 came back with the lowest possible results.
At 19 weeks, they found our baby girl had an omphalocele, and wanted us to go to the city for more testing and a second look. While we were there, we opted in for amniocentesis to hopefully rule out any abnormalities. They didn’t expect any, as her growth was normal and everything aside from the omphalocele looked normal. We were ready to take that on no problem as the outcome for those kids is pretty great and most do very well during surgery.
A couple days later, our Dr called and said they suspected BWS (Beckwith-Wiedemann Syndrome) as well, because she had a slightly large belly as well as enlarged liver and kidney. We got the blood testing done for that and while we patiently waited for results, I joined Facebook groups for both symptoms and felt great about our daughters outcome. Sure, there would be struggle, but overall she would lead a normal life.
Those results came back positive, and though we were hoping they wouldn’t, we were already prepared and were still happy and excited about our pregnancy.
Today, we got horrible news. Our amnio results showed a large deletion in the 18th chromosome, de Grouchy Syndrome - which comes with its own array of issues, including mental retardation, psychological issues, craniofacial abnormalities, increased risk for infection, the list goes on.
Quality of life for her is so important for us, and it’s so hard to have to make the decision to let her go. I will be 22 weeks on Tuesday. I’ve been feeling her move around so much these past few weeks and she feels so strong and alive. For the first time yesterday, her daddy and I got to feel her move from the outside.
My heart is aching so bad that we need to terminate and I am having such a hard time coming to terms with that.
Can anyone relate? I know this happens, I just never thought the odds would keep stacking against us like this.