Amnio or no Amnio?

[Leo4]

After a really good nuchal translucency and blood test, I came back with very low risks for Downs Syndrome, Edwards Syndrome and Patau Syndrome 1:21000 for downs and 1:38000 for Edwards and Patau.

Thinking everything was good my Mum arranged for me to have private 3d scans for my birthday. At 17 weeks I had a 3d/normal scan and the sonographer noticed the baby may have clubfoot so arranged for my hospital scan to be bought forward and for me to be seen by a consultant. She did not mention however, clubfoot being linked to edwards/patau syndrome.

When I saw consultant at 18 weeks she confirmed clubfoot and said on there own it is a good prognosis. However she said they are a sign of both edwards and patau syndrome. She said at the moment I have no other sign of chromosomal problems and therefore the prognosis is probably good. And that just talipes on its own rarely results in edwards or patau. However she said that to eliminate the risk i should have an amnio centisis. But the risk of miscarriage is 1:100. This is probably a lot higher than the risk of my baby having Edwards even with the clubfoot being involved. So I am really unsure whether to risk it.

The consultant also mentioned I could have the amnio at 32+ weeks, to eliminate miscarriage and only having a premature labour in any case. However I don't know if there are higher risks at this stage. And Whether I should even wait this long. Any information on this would be really helpful.

I actually tried to post a response last night but it got lost when the site updated (definitely a way to know that you're up too late!). First and foremost, congrats!!

So I think that you need to think about what you would do with the result of amniocentesis? Would you consider a late termination? Would it help you prepare if it was a positive result? How would you feel if you had a miscarriage but had a negative result?

My own (very personal) choice is that given that there are no other structural abnormalities normally associated with Edwards/Patau syndrome, I would opt not to have an amiocentesis at this time. I would then want a repeat scan at 32 weeks to identify if any abnormalities had developed. If yes, then I would have amniocentesis at this time so that I (and my family) could prepare for what was going to hapen. But if no abnormalities, I would ask for a further opinion from the consultant but would probably err on the side of not having further investigation. But all this is based on the fact that I would not have a termination regardless so wouldn't risk miscarriage early on. But again this is my choice. What does your partner/husband think if they are still involved (sorry don't want to pre-judge your family situation)?

Have they talked to you about what your options are for clubfoot treatment?

Yes I Know...being up late is my speciality at the moment..I'm finding it terribly hard to sleep with all this floating around in my head!

I think atm my opinion is the same as yours , because I am unlikely to have a termination and don't want to risk a miscarriage. I really just want to prepare myself before birth basically of what I am up against! The only difference is I am seriously considering the amnio at 32 weeks no matter even if there are no abnormalities....I really don't know if that is selfish or not! My DH is of the opinion is not to have any invasive testing and what will be will be..He is very upset though that we have come across a problem after thinking everything was alright and after a miscarriage last year!

Yes they have talked about the Ponseti methods and the operations the baby may have to have. The prognosis is definitely promising if it is only talipes! When I first found out my baby might not be "PERFECT" I was devestated...but now I am hoping and praying my little one just has lovely inverted feet! Plus I know loads of people born with inverted feet and too the untrained eye they are perfect now!

Thanks for your opinions...personal opinions can always help!

Hi Leo4
Your little one is in good company - Steven Gerrard for one.
Whilst the idea of injecting Baby with botox seems scary that did sound
reasonable in terms of non surgical. Wikied it.
I had amnio at 39 - it is the norm where i am (abroad) and it was fine.
Difficult not to move as i laugh when nervous but it went well and did not hurt.
But in your case I would wait personally. It's a tough call but I would
not do amnio purely based on the clubfoot diagnosis.
Can't they redo your bloods instead?
Wishing you all the best and your LO will be perfect to you regardless I'm sure. XXXX

I can understand about wanting to know - I don't think it is selfish at all. The reason why I would have amnio at 32 weeks is so that you can get your head around it if it is positive and if it is negative then you can let it go. Your consultant would also at 32/40 be able to give you a better idea how your baby would do if early labour occurred prior to the amnio. A baby growing well would perhaps make me feel easier about going ahead, whereas a small for dates baby (with no abnormalities) might make me want to wait a further two weeks and reassess.

The ponseti method is really very good. I have heard of very good results, both functionally and cosmetically. I know what you mean now when you say that you'd love just to see his little inverted feet :)

At the moment my baby is growing well and some parts more than average...so im hoping for a slightly bigger baby that can cope with the stresses of premture labour if it occurs!

also mybrain....I read steven gerrard had clubfoot!! gives hope to all the little babies with clubfoot out there!! I think when I see my specialist consultant today they are redoing my bloods so hopefully all will be well...I will let you know how it goes xx

Thanks everyone for your concern I had a private scan with a specialist today.....and he was of the impression the talipes was completely isolated and the risk of t18 should perhaps not have been mentioned in my case and he wouldn't risk invasive testing.....on my notes it says every part of my baby is fine apart from slight talipes maybe even positional. Obviously there is still a very low risk...but the consultant says a t18 baby usually has more than one marker and one more severe than talipes such as heart defects and choroid plexus cysts....I feel so relieved!! He said I can enjoy my pregnancy.....bring it on xxx

Yay! So pleased to hear!! Now sit back and relax :)