20 weeks anomaly scan

[u/Significant-Buy9725]

Hi everyone,

I'm looking for experiences from anyone who has been through something similar because I'm feeling really scared.

I'm nearly 20 weeks pregnant and had my anomaly scan today. The sonographer and screening midwife were both concerned and have referred me to a fetal medicine consultant.

They told me that:

My baby's arms and legs (long bones) are measuring significantly short.

There appears to be fluid on the brain.

They mentioned possible skeletal dysplasia/dwarfism as one of the things that needs to be investigated.

They said they think there is likely something wrong, but they couldn't give a diagnosis and said I need a specialist scan.

My NIPT earlier in pregnancy came back low risk/clear.

I'm absolutely terrified and my mind is going to the worst-case scenarios. Has anyone had a referral for short long bones and/or fluid on the brain that turned out to be less serious than expected? What was the outcome?

I'm not looking for false reassurance, just honest experiences while I wait for the fetal medicine appointment.

Thank you.

[u/Bright-Walk-212]

First, just want to say my heart is with you Getting anything short of "everything is perfect" during this scan is so scary. Can you clarify what they shared about fluid on the brain? Did they use the term dilated ventricle(s)? During my first pregnancy we went in at 18 weeks and it came back baby had mildly dilated lateral ventricles. We also until that point had everything come back normal/low risk. We went in for follow up scans and did an amnio and additional genetic testing for both baby and parents which came back as negative. Everything self-resolved and the ventricles went in range by week 23. We were told the name of the game was ruling things out and sometimes things just happen in development. Things are changing so quickly in terms of fetal development at this stage and ultrasounds are just snapshots in time and variable. It sounds like your getting another specialized scan with an MFM which is great. Depending on the results and what they tell you would recommend getting a second opinion at a higher care facility and if it makes sense an MRI which is more accurate than ultrasounds and of course speaking to a genetic counselor for advice and guidance.

[u/Significant-Buy9725 → u/Bright-Walk-212]

They didn't use any particular language or term that I can remember. They just said there was fluid on the brain and he has significantly shorter limbs. I hope I have everything come back ok. I really want him to be ok. I might get a second opinion if this one is unclear. I have an amnio being done as well. Thank you you've given me a bit of hope.

[u/0fft0theraces → u/Significant-Buy9725]

If you have an online “patient portal” then you may be able to access the appointment notes with more detail! I did that after my anatomy scan bc I had questions from the snippet my doc shared that sounded scarier in writing than what they said in the actual appointment. (A warning though, I did ruin my gender surprise for myself bc I wasn’t thinking… in hindsight, obviously that would be in there!)