As I write this, my fingers seem to work, but my brain is having trouble processing how we got to this point. I am 34 years old and this is my first pregnancy – a result of an IUI after naturally trying unsuccessfully for a year. As all parents who yearn for a child, we were beside ourselves with happiness.
Since IUI was our method of conceiving, we had weekly 2D ultrasounds. All was going well with normal heart beat, normal growth, and I was released from care from my reproductive endocrinologist at 9 weeks. I transferred to a new gyno and had another 2D ultrasound at 11 weeks. No issues seen and my NIPT came back all normal. We set up a nuchal translucency anyway to measure the baby’s neck.
And then my world changed.
At the fetal medicine appointment, the sonographer looked at the brain development, the heart, the neck, etc. and all was considered “normal”. She had some trouble finding the left arm and when she brought the doctor in, I knew something was wrong. I then was told that my baby was missing the bottom portion of his/her left arm from the elbow down. At the time, all you hear is “missing” and your brain goes into overdrive, but I tried to keep it together as best I could. Both the fetal medicine MD and my gynecologist THINK it is a result of ABS – however, they didn’t mention seeing a band on the 3D ultrasound. In addition, since it was halfway up the arm rather than at the hands or fingers, they think it probably happened between weeks 7-9 in development.
That being said, I was told that at 12.5 weeks, it’s rare to even notice such a deformity, much less notice any other issues since the baby is still early in development. We met with a genetic counselor who advised us of our option to do a CVS or an amnio to check for genetic or chromosomal abnormalities – we decided against the CVS, as it carries a higher risk of miscarriage, but we are stuck on the amnio. I know doctors will tell you there’s a “slight” risk (1 in 400-1 in 1,000) of miscarriage, but when you think of the “slight” chance my baby had of being affected by ABS, 1 in 400 no longer seems slight. The professionals have told us that they expect that the cause was ABS, but of course they couldn’t tell us for sure.
Although – right now – our child is known to have a missing piece of his/her arm, the doctors have told us that 12 weeks is too early to really see any other issues and that waiting until 16 weeks with an amnio will tell us more. I’ve read some things on clubbed feet and ABS and now I’m seeing some research that shows chromosome 17 may play a part in clubbed feet. While we have every intention of keeping the pregnancy with the missing limb, we are terrified for the child’s quality of life if something else that’s significant is found. I can’t imagine termination. I just can’t wrap my head around it so I think I am leaning away from doing the amnio, but my husband is adamant about it. We have not told anyone except our immediate family about the pregnancy, but at 16 weeks I will undoubtedly be showing so I just feel so stuck.
To be honest, I don’t even know if I have a question. I think I am just looking for someone else who may have had a similar experience or anyone who had an amnio done which showed a genetic or chromosomal abnormality that relates to limb deformities. I know most of the conversations on here with regard to amnios have to do with Trisomy 18, 21 and 13, but we are less concerned about those, as our NIPT came back normal (although we’re aware that anything can happen).
Any kind of feedback would be so appreciated.
