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.

Just read this - sorry it went unanswered sweetheart. Firstly, I'm no expert! I terminated at 13+4 after CVS. Have you got to 20 weeks yet Leo? I'm sure you can have Amnio b4 32 weeks! I know the risk would still be there, but if you DO want to go down that route surely it would be better to do it at 20ish rather than 32. xxxx

Its fine there are so many posts...So I didn't assume it would be answered straight away, most peoples posts are about stretch marks or names and are easier to answer than this! Yes I am 20 weeks and they can't do amnio much after 20 wks because the baby becomes viable and then if I miscarried they would have to keep it alive..and at this stage the babies are often too weak and die anyway, so making it an even more painful process for you. This is why it was suggested a 32 weeks amnio to rule out edwards would be better as my odds of having a normal baby are still very high at the moment with only one soft marker and it would mean the baby would probably survive and I wouldn't have to go into labour not knowing if the baby had Edwards or not. I am seeing a private specialist consultant tomorrow for a 2nd opinion on whether I should have it now or later.....I'll just have to wait and see. Tbh I don't even know how common it is for a baby having edwards if talipes are found.

Thanks for your concern x

hmmm i guess it depends on what you would do if the outcome was positive for edwards/pataus.

personally speaking I do not think I could terminate at 32 weeks, so I would refuse the amnio and just see what happened and hope for the best outcome. I realise that the prognosis for both syndromes is very poor, but I think I would rather deal with that than with a termination

if however you would consider termination, then I think you should have the amnio as soon as they will do it.
what about cvs? are there different limits on when that can be performed?

meant to say as well... write a list of questions for the consultant to make sure you don't forget to ask anything. for example, what is the actual number of babies with talipes born with edwards/pataus?

it's a really tough decision to make, and my thoughts are with you

Atm my risk of a miscarriage is actually higher than my risk of having a baby with edwards...so I really don't know whether I should...The chances are I'm risking a healthy baby just to settle my mind..

I get what you mean.. I should probably just hope for the best and see what happens..

CVS is only before 16 weeks so that one is out of the window
x

o yer and thanks I should definitely do that...I'm going with my mum and DH for support xx

Just like to add - there is a very good chance everything will be FINE! Your odds are still really good Easy to get bogged down in what if's - look after yourelf, fingers and everything crossed that everything is perfect xxxxx

Thanks I have got everything crossed at the moment.....losing a baby at any stage is heart breaking but to loose it now I have a bong will be heart breaking xx

bond*

Hello Leo, I'm sorry to have read your story and I hope things look a bit brighter tomorrow after your appt. My baby girl had Edwards and we didn't find out until 26 weeks and I subsequently ended the pregnancy. I had an amnio at 25 weeks, which was advised because my baby was smaller than ave for dates, had a suspected heart abnormality (not detected until 25 weeks) and in a detailed scan just before the amnio, she had one clenched hand (a marker for Edwards). Prior to this I had been given odds of 1:190000 for Edwards, so I'm not sure how much weight I give to odds but I know that I am the exception.... The 'one'. I think you have to make decisions on what you would do with the knowledge and collect as much information & evidence as you can before you decide to have an amnio or not. I was told that my baby would not have survived at 25 weeks if I had gone into early labour but that was largely due to the other complications (heart defect).
I'll be thinking of you and hope that you have a positive outcome xx

My baby is quite big for dates for example the baby is 99th centile for femur length and they are saying my dates are right so I am hoping this is a good sign! I did actually read your story in another thread and I have to say Iam feeling like that 'one' atm!! I am also probably going for a late amnio but I am still not sure whether to let nature take its course. I am sorry for your loss...and I know this is a personal and hard question..but did you get to hold your baby etc after it was delivered? xxx

That's a really good sign- before my amnio the drs seemed to be most worried about the growth- she was on the 3rd percentile. It was the combination of that and the heart and hand that took me down the amnio route. For the record, the amnio was fine, didn't hurt much and was over very quickly. I rested for 48 hrs and was fine.

Yes, I did get to hold my baby and see her as much as I liked whilst in hospital- it's your choice. I also have photos and her hand & footprints and even the little babygro they dressed her in. Again this is all personal choice.

I hope that you don't have to go down this road as in isolation all these markers they find are fine, it's just seems to be when they find lots to give you a bigger picture.

I'll be following your story, let us know how you get on today sweetie x

It depends what you would do with the results. How well do you think you would cope with a child that had Edwards? Would you carry on with the pregnancy?

When pregnant with dd, the combined blood tests and neuchal scan gave something like a 1:6 chance for downs. I had a 11 month old son - I felt at the time that I could not go ahead with the pregnancy if the baby had downs as I just did not have the mental resources to cope. The decision was not an easy one to make but having weighed up all of the possible outcomes for our family, we knew what the right thing for us to do was.

I had an amnio and everything was fine. With the amino - the needle is a scary length, but very thin and feels odd rather than painful. It was not a traumatic experience at all.

Decide what you need to know.

I'm new to mumsnet after receiving my results yesterday at 1:120, at first I didn't think that was so bad but the more I looked into it that is actually classed as high risk, obviously not as high as yours GooseyLoosey. We have decided to have further tests at this time because I don't think I could wait to see if I was that 1 out of 120, I would rather know. My partner is adamant that he couldn't cope if there was something wrong but we have decided to cross that bridge if and when. It has been of great comfort to read all these posts as the last 24 hours have been incredibly stressful, and in that time you feel like you are the only one so a big thank-you to you all.

My little Angel- Really that is small...my baby is all over 50 ATM..but I just can't help but feel pessimistic as his/her feet are quite badly twisted! Im so glad you got to hold your little girl..I know that is what I would want after a traumatic experience..seeing your child at peace etc

Il let you know how I get on today! Hope you are finding some solace somewhere xx

Goosey- As Edwards babies often have no life capacity it probably would be best to terminate anyway as even if you waited till birth it is likely they will only survive a couple of hours but I still feel like I am taking destiny into my own hands...with downs its kindof a different matter to me as I have no other children and downs children can have a good quality of life so if i found out this at amnio it would be a more difficult decision. The only thing that bothers me is that im only 20....

I do actually have experience of amnio not from myself but my mum. She had one as she fell pregnant at 40 and she had two children one being 12 and me being 14 at the time..so she felt having a handicapped child would definitely end in termination for her as she did not want us to have the burden of looking after him/her when she and my dad were gone. She said the only pain she felt was the cramping afterwards, but she did feel extremely guilty. Everything went fine though and I now have a 5 year old brother who is the light in my life...I hope everything goes just as well for me!

KTM- Hope your tests come back with good results..I am probably waiting till 32 weeks as atm my risk of edwards is low..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. He checked for the clenched hands you were talking about my little angel and the babies hands were all in line and not clenched so that is positive as well. 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....I feel so relieved!! He said I can enjoy my pregnancy.....bring it on xxx

I'm so pleased for you. Enjoy the rest of your pregnancy, which I hope runs smoothly from now on! X

That's brilliant news , relax now! xxx