Posted: Sat Dec 01, 2012 6:57 pm
Post subject: Has any1 here had a amnio done???
I would like to know about your experiences good or bad if you dont mind : )
Heres my reasons...
At My 20 weeks scan we were told that our sons femur bones were about 2weeks behind (below 3rd centile) everything else was growing and looking normal and was sent for another scan 3 days later which was then told all his long bones are short was then told that this can be a marker for Downs, my bloods came back Low Risk and was offered a amnio me and my partner did decide against it due to it wouldn't matter to us he our son and we'll love him regardless also he has nothing else to say he would have, also im not exactly tall im 5'2 i am also very high risk at going into to labour early because my cervix is getting shorter than it should and im having to take hormone pessary's to stop my cervix from opening because of this things i am being pretty much being scanned every 2-4weeks.
Well i went for my scan on thursday and was told his bones are still shorter but they are growing (he's following his own line)and told that there could be other possible things for the reason his bones are short like lethal skeletal desplaysia which would mean he wouldn't survive. but she said if everything was ok he would be below the average normal height now all these things are nothing definate and are only being told because they have to inform us, but have told us to really rethink about having an amnio done so we would know and they could give us the best help to prepare for anything, im so torn because id be over 24weeks if i had the test done and the risk that can happen and im terrified we'd loose him
now i know there are many that have had the test and everything been fine after, and we wouldnt be having the test done for any other reason now than to get the best information on what may or may not be wrong, because we are now being told different things each time we go and we leave heartbroken and still not knowing anything its so stressful whilst dealing with this im also a full time mum to our 4year old son.
now can i keep dealing with this uncertainty for the next 16 weeks or do we have the test and know for definate and get results within 2-3weeks and prepare ourselves for what ever may be like i said before regardless of the result it wouldnt change a thing but is knowing before better than us just waiting and being told all the possibilities that may or may not come to anything.
really hope that all made sense and i didnt go on to much
Posted: Sat Dec 01, 2012 9:00 pm
I don't know what to suggest because I've never been in that situation. I can totally understand why you want to have it done so you can prepare medically and mentally. Is there no way they can tell what wrong without doing it just because there is a risk (which I'm sure you know) that you can go into preterm labour.. my mum had amnio bit she doesn't have a short cervix or anything and it was a top doctor in London who did it.. can't remember his name think it was a Greek name.
I think it's awful how cryptic they have been with you and how they keep worrying you. Don't let them bully you into having an amnio if you don't want one. Perhaps pay for a private scan?? Some clinics are so good they don't need to do amnio.. my mum went to the fetal medicine clinic on Harley street. She said they were amazing. They did an amnio on her when she was just 10 weeks. I really hope you get some answers soon xx
Posted: Sun Dec 02, 2012 9:40 am
I really feel for you with all this to worry about , I know the risk of pre term labour from the amnio alone is low, but with a shortening cerix too that might make a difference
(although my SIL when we were in germany was on bed rest from about 26 weeks until about 34 because her cervix had shortened to less than 2 cms and in the end she was induced at 38 weeks (for something else) and it took almost a week of pessaries every other day to get her into labour if its just shortened and not dilated its doesn't necessarily indicate you'll go into labour early )
I've not personally had an amnio, but it was something we discussed whilst TTC as I was 40 when we started again, so obviously the risks were higher , I think I'd have been the same as you with the Down's risk if the nuchal or blood test had come back low risk I would have left the amnio , but now with this new issue i'd be torn too , just from having a quick google myself, it sounds like with lethal skeletal dysplasia there are a few things they often find like deformities of the rib cage etc. and it can generally be confirmed or ruled out pretty much by ultrasound alone
If it is lethal skeletal dysplaysia then a lot of hospitals will offer the choice to deliver early as babies won't survive anyway,and they can pass away in the womb so they really should be giving you a more definate diagnosis but if its another form of dysplaysia (like "normal" dwarfism achondroplasia)then the outcome can be completely different and of course there's always the possibily he's just going to be small After all the only reason they have percentile lines is because some babies are above them and some below
I couldn't find anywhere where an amnio was suggested for diagnosis ? Even looking in the NHS guide for doctors , but it did say a second opinion should always be sort before counselling a woman in a particular direction , I think I'd be asking to be seen by a specialist, perhaps at a larger teaching centre if you have one nearby , because often they see more of the unusual and hard to diagnose problems and can give you a better idea of the problem,if there is one and of what to expect so you can make a decision based on the facts .
Good luck xxx
Posted: Sun Dec 02, 2012 11:05 am
Really appreciate the replies,
everything else about him is showing normal apart from his shorter bones and hes a very active baby lol, she said that at the moment his rib bones are fine and like every else they have said the only indication is his shorter bones. dwarfism hasnt been mentioned just that he would def be below the normal average height.
i know they have to tell me the possibilities which maybe connected to these things even though he may not have any of them he could just be alot smaller. they just seem to want to rule them out with the amnio, which she said can pick up more than just downs. its just all this not really knowing and my consultant is the same they dont know because there isnt anthing else to connect it to a specific thing.
im going to try n see my midwife to see if she can suggest to see or talk to someone else because atm its all been consultant led and dont even think my midwife is aware of my situation. i just wanna get some sort of answers.
my cervix was shorter anyway due to have pre cancerous cells when i was 21,im now 24 and having 2 loop diathermy, then it has got even shorter with the pregnancy, im having to have it checked often because if it does get below a certain measurement i will to be either have to stay in hospital or at home on bed rest for the rest of my pregnancy and the hormone pessary's are to encourage my cervix not to dilate, i also am not allowed to do that much and to am to rest whenever possible so far so good with that : )
Posted: Mon Dec 03, 2012 8:19 am
Well just from what I read yesterday an amnio can pick up achondroplaysia (dwarfism) but not all forms of skeletal dysplaysia , everything was saying that the diagnosis from that comes from detailed ultrasounds and careful measurement and comparison of the size of various body parts,like the head,abdomen, chest and foot to femur length , so if the ultrasounds so far aren't showing major markers for "normal" dwarfism then i'm not sure what they think they can acheive with an amnio ?
I'd definately ask for a second opion though before putting yourself through an amnio you don't really want to have as often opinions on the best way forward vary between consultants ,and they all have different specialities , and you really should be being given more information though to help you decide rather than just suggesting one thing it could possibly be just to cover themselves
Hope the midwife can come up with something to help you get more answers , maybe she can suggest a good consultant to speak to