Deformity in anomaly scan

[firsttimemomx]

Please if someone could take time out of their day to help me I would really appreciate it.

I have just had my anomaly scan at 22 weeks. During the scan we was told everything else was normal, however when looking at the baby's limbs they found something wrong.

In simpler terms they said the right leg was a lot shorter than the other with a twisted foot, this was very obvious to see on the scan.

On our scan report the abnormalities says
'Extremities: Twisted foot. Very short right leg with only a single short sheen bone'.

We wasn't given much information of this, I suppose she probably isn't allowed to, and we are currently waiting for a call from a consultant to discuss our next scan (which could be up to a 2 week wait) and see what we can do from there.

Has anyone had anything like this before and knows what it could be? I'm very upset at the moment, we lost our first baby and now we have no idea what quality of life this baby could have and what decision to make next as we have absolutely no idea what this could possibly mean.

Please no judgments here, just looking for some advice because I'm really struggling at the moment. I'm only 20 years old and I'm still in university and I'm just terrified to what this could mean.

I’m afraid I have no relevant experience or knowledge, but just wanted to send sympathy for your worrying time and give your post a bump in the hope someone me useful sees it

*more useful!

I'm sorry you are going through this OP. We lost our 1st to patau syndrome, then MC our 2nd. I'd suggest writing down a list of questions you want to ask the consultant. It can be an overwhelming time, and nothing worse than thinking of a question later on. I'm not an expert, but the condition sounds like fibula hemimelia. Assuming its just a physical problem, no brain involvement, then it sounds like your little one would have a relatively normal life- albeit with physical issues. Here is a wiki link which shows a great deal of athletes with the condition. Hopefully someone with 1st hand knowledge can help though x
en.wikipedia.org/wiki/Fibular_hemimelia

Yes I did think fibula hemimelia too but don't want to get too ahead of myself. I just really hope he can live a good quality of life whatever he's got. This waiting and not knowing is torture😔

I really hope you don’t have to wait long for a call. Such a very difficult situation when you have little information, but clearly there is a structural issue. You will need to think very hard about just how you feel about dealing with such issues. I have supported families who decided that they couldn’t. As PP suggested, it is a good idea to make a list of questions as they occur to you. Do PM me if it might help x

Hiya - We had a similar experience at our 20 week scan. Our little girls leg is significantly smaller on the right side and it wasnt picked up on the scan but she was also born with positional talipes (clubfoot). Shes will be 5 next week but I remember the worry like it was yesterday. Things havent always been easy but honestly she is getting along amazingly. She has a condition called PFFD which means her femur is short. It does sound perhaps more like Fibular Hemimelia like you mention. I recommend looking at Steps Charity webpage (they also have a helpline). I will also send you a message if that is ok xxx

Hi all - yes I have done quite a lot of research and it is looking like Fibula Hemimelia, I'm currently waiting on test results to rule out any chromosomal disorders so trying to stay positive but still feel really down about it even a week after finding out. Thanks for your replies