Scan showing a skeletal dysplasia......any experiences good/bad please

[razzdazz]

I am 20 weeks pregnant and have been told at scan that my baby boy has a form of skeletal dysplasia. Was sent to specialist in oxford who has said that the very bowed and short legs would appear to be a lethal form (osteogenisis imperfecta type 2 was suggested) but that his chest cavity does not coinside with this. His arms were also on the short side but all other measurements were correct to dates and appear fine. He is very active. I am in turmoil. Does anybody have any experience of this type of diagnosis and if so I would be grateful if you could share with me the end result be it good or bad.
Many thanks in advance.

Hi no experience of this but I know of one poster (from the sn board) who went through a similar thing.

Try re-posting this on the sn board and somebody may be able to give her a shout for you

She has a very beautiful ds, so she may be able to offer you some words of encouragment.

Hi, I have had two pg's during which I was told my baby had possible skeletal dysplasia, you have all my sympathy, it is horrendous.

My advice would be firstly go and see Prof Nicolaides at the Fetal Medicine Centre on Harley St for his opinion. If he concurs with the other doctor you may also wish to get to see dr Lyn Chitty at UCLH, she is a genetics expert specialising in skeletal dysplasias. Prepare yourself for no particular conclusion however, that is the problem with dysplasias, there are so many forms that they cannot be conclusively diagnosed pre-natally (with the exception of achondroplasia, the most common form, which amnio can identify). I think that Emkana, the poster referred to by anon, has a DS with achondroplasia, it is not a life threatening condition.

FWIW, my first experience turned out to be a shocking mistake by the "world class" doctors at Queen Charlottes fetal Medicine centre, to which I was sent after standard 20wk scan showed short femurs. They managed to transpose both ds1's arm measurements making them 23mm instead of 32mm which of course made the graphs look v worrying when plotted with his short femurs too. I went to Prof N and got second opinion thank goodness, DS is perfectly fine, now 5.5, with long legs!

With DS2, he was IUGR so there was a lot of speculation about whether there may be some condition causing restricted growth, as opposed to my placenta simply not functioning. Amnio at 21wks ruled out achondroplasia but for most of the rest of the pg skeletal dysplasia was always mentioned as a possibility, DS2's femurs were even smaller, proportionally, than the rest of him. Prof N was adamant that there was none, Dr Chitty maintained that there "may well be some form of dysplasia" and left us hanging with that one....she couldn't be any more definitive. DS2 was born 15m ago, healthy and happy but tiny and he is still small. He shows no obvious signs of any condition but he is also not catching up with his growth as a typical IUGR baby does so while we think and hope the Prof was right, Dr Chitty may still prove to be! The main thing for us though, is that it looks like the only issue is his size, which seems like nothing compared to the problems we were contemplating before he was born. I really hope that everything turns out as well for you.

Good luck, keep me posted, will be thinking of you.

Did I hear a beautiful ds mentioned - that must be me then! If you search for posts by me you can read all about the saga of my pregnancy with ds. He is now nearly five and as was said very beautiful. He does have some health and development issues but he is just amazing. Having said that, the developmental delay is very atypical for skeletal dysplasias. As was said before, take anything the doctors say with a pinch of salt, they are generally just completely rubbish at diagnosing skeletal dysplasias. We are yet to find out which type ds has exactly. When I was pregnant it was suggested that he had a life-limiting one and I was distraught. My friend was told similar when she was pregnant, we now both have wonderful, happy boys. If there's any questions you would like answered please don't hesitate to pm me. All the best xxx

I have no personal experience, but a lady I knew on another forum (American forum) was told that her baby most definitely had it, in the lethal form and was advised to terminate. She didn't. The baby was born last month and it turns out she had dwarfism and seems to be doing absolutely fine!

I'm sorry you're having such a worry and I hope everything turns out okay.

I think it is good if the chest cavity doesn't show the dysplasia, maybe there is more hope? - my friend got told at her 20 week scan that her son had a dysplasia where the chest cavity wouldn't grow, and was advised to abort right then as it would mean pain for her poor baby as his organs would have no space to grow. :-( I hope you get better news at the consultants - thinking of you.

Emkana, I was indeed talking about your beautiful ds, I hope you didn't mind but I remember your posts when you were pregnant & it reminded me so much of the OP.
He is gorgeous but you know that!

Thank you

hi I just wondered if any of u cud give me some informationim 22 weeks pregnant and at my scan 2 days ago I was told my baby had skelatel dysplasia of some form. his head chest and thorax all look ok just his arms and leg bones measuring 2-3 weeks behind I have all these questions and no one to ask at 12 weeks I had cvs done and nothing showed on there has anyone dealt with this before do u no what sort of outcome my babys looking at doc sed he will live 15 to 20 tr if not longer and could have use of arms and legs at the minute his right foot is turning in (clubfoot) thanks in advance to any support