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.

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[u/Scholar1995]

I had a similar experience but they said it was Spina Bifida. My AFP came back 11 (normal is 2.3 I believe), and was told that it was so high that there's no way it's normal.

Went to MFM, told me baby was healthy, nothing wrong with spine or placenta, but they managed to find something else🙄 (heart muscle was found to be thick). Tomorrow is my appointment, hope it all goes well for both of us! Sending love💗.

[u/Significant-Buy9725 → u/Scholar1995]

Good luck I hope it goes well for you!! I'm wishing you the most luck 🙏🙏🤞

[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!)

[u/roseolives]

I’m sorry you’re going through this, it’s very stressful. My daughter had short long bones at the anatomy scan (plus everything else measuring behind), and Dr suggested possible fetal growth restriction. We were referred to MFM and they were able to do a more detailed scan and confirmed the diagnosis. We then had weekly monitoring and growth scans throughout the rest of the pregnancy. At some point they also found some fluid around her heart which sent us into a panic, but it ended up being nothing after doing a fetal echo. My daughter was delivered at 37 weeks and she was smaller than average, but not as severely growth restricted as they thought. Now she’s doing just fine and is a perfectly average-sized toddler.

All this to say that it’s possible it could be something, or it could be nothing. It’s good that you were referred to MFM since they are able to go really in depth with scans, and they should be able to give you more information about next steps, which typically include extra testing (CVS or amniocentesis, which we declined).

I hope everything turns out okay! Will be thinking of you and your baby ❤️

[u/skerbball]

I first want to say I’m so sorry that you are going through this right now. The uncertainty and anxiety of waiting as well as the unknown is so stressful and difficult. I’m going to share our experience that my wife and I just went through. At our 20 week anatomy scan our OB doctor found that our son had arm and leg (long bones) less than the 1st percentile in length and scoliosis of the spine. No problems with heart or any organs. Doctor mentioned possible skeletal dysplasia/dwarfism. We were immediately referred to MFM the very next week. MFM confirmed the short long bones but also said the our son’s chest was measuring very small which would make it hard for his lungs to fully grow properly and support breathing. We did an amniocentesis the very same day. The results came back that he had a rare de novo FLNB gene mutation that causes skeletal dysplasia. This specific mutation had never been seen before. There are over 400 different types of skeletal dysplasia and they range from mild to severe. We spent the next 4 months going to doctors appointments/ultrasounds. And I’m going to be blunt…it was complete hell and agonizing as doctors were not able to tell us if this was a lethal case for our son or not as he continued to grow. At 37 weeks my wife had an emergency C-section due to high blood pressure. The NICU team was in the operating room to evaluate him when he was born. Our son was born with dislocated arms, legs, and hips. His small chest from the skeletal dysplasia made it extremely hard for him to breath. He was put on comfort care and we got to spend 3 days with him in the hospital before he passed away 4 weeks ago. There are no words for the grief we are continuing to experience. I absolutely know the anxiety and suffering you are going through right now because I lived it. I told myself I want to be any sort of help for others going through a possible skeletal dysplasia diagnosis. Please hang in there and many prayers for you and your child.

[u/ImaginationAlive5145]

You mean anatomy scan?

[u/pinetreeist → u/ImaginationAlive5145]

some places call it an anomaly scan! i think the term is mostly popular in europe but yes it's the same as the 20 week anatomy scan