Amnio 1in 3 risk of Downs/Turners

[loughglynn]

Hi there. I am all new to this but I needed to talk to someone. I am 41 and expecting my second child in June 2010. I had a 12 week nuchal scan and the fluid at the back of the baby's head measured 7.7mm. I had my first child in 2007 and at the 20 week scan they found markers which was checked out in London and they found that my baby had a whole in his heart and kidney dialation. They also gave me a risk of 1 in 150 of Downs. I didn't have an amnio then and my child was fine, the hole had cleared up and within two years the kidneys was fine. I didn't think I could go through the agony again but here we are.
This time is far worse and we are going for the amnio on Thursday after another scan. I have been so upset for the last three weeks waiting and wondering. They couldn't do the CVS at 12 weeks as it was too risky and my womb was tilted backwards. The risk is 1 in 3 of Downs with 50% of this Turners but who knows what they will find. I am so scared.I had been reading Peanutheads threads which at least made me feel so alone in this. Would like to hear similar experiences.

I had amnios with both of my kids, and the procedure itself was no problem at all, and the result is at least conclusive. I know that because they are relatively rare now, people do worry about the procedure, but in my view it is not traumatic in itself. Obviously, however, waiting for the result is agonising, and then dealing with a sad result is yet another thing.

Pregnancy is a very worrying time, especially for people who have good cause to feel anxious; and you are certainly not alone. All sorts of stuff came up for me to worry about during my first pregnancy especially, although my amnios were clear.

I found both times that active birth/yoga teachers helped me keep some semblance of calm. I hope you find all the support you need. I'm sure there are other people on here who can help more than I can.

Positive vibes being sent your way and good luck for Thursday.

I had CVS x3 and amnio 1x and certainly found the amniocentesis much less uncomfortable and scary than CVS. We were very lucky and had good outcomes.
FWIW, I was 43 when I conceived DS4.

Try and bear in mind that screening tests are just that, screening. They give odds, no diagnosis. 1 in 3 chance of affected baby still means 2 in 3 for not affected.

Fingers crossed for you xx.

Sending you my thoughts as well. I had an amnio and I think it was the most scared I've ever been in my life. Not the procedure itself, more the worry over what they will find. Your whole future life seems to hang on it.

I got through it by keeping as busy as possible and by trying to keep telling myself that nothing I could do could change the situation. It is what it is.

I found the amnio itself not bad at all, not painful. Very best of luck to you. Xx

Hello, Just read you post and wanted to send you lots of hugs and strength for what will be an awful week or so for you.

I'm currently 34 weeks pregnant and was given 1 in 2 chance of DS at 12 weeks. We has CVS and thankfully all turned out fine. We've had extra heart scans and I've got another growth scan later this week but all seems fine so far...

I'll be hoping for a very similar outcome for you - take care of yourself x

Thank you all for your messages, the fact you have taken the time to send me words of support are heartwarming in itself. Its amazing how ignorant we are about the agony many women go through during pregnancy and it is only by sharing our experiences do we get a clearer picture of the ups and downs of bringing a new life into this world.

Hi

I wanted to send my good wishes to you too. I have been in a similar place where you are - only fluid measured even higher than yours, plus cystic hygroma and they told me at the nuchal that the baby couldnt survive. So your position is a lot more positive than mine was. I do know how it feels, and I really hope your baby is okay (the stats sound bad but really there is still a much greater chance of all being well than not.). When is the amnio? Good luck and I have my fingers crossed for you.

Hi

Sending my good wishes too. I wondered if you had looked at the Turner's Syndrom Support group www.tss.org.uk/ teh doctors seems to quote very bleak outlook for a girl with Turner's but I think it is a somewhat distorted view.

Hi LG
I don't normally reply to these threads as I didn't have a good outcome and i know that when you're waiting you don't want to hear about the sad stories, you want positive outcomes to ahng onto but it seems you've already read "my" threads. I wouldn't wish this situation on anyone and dread seeing new threads in this area of MN. Just hang on in there, you really don't know what the diagnosis will be - it may all be fine. Have they booked you in for a heart scan? Will check in to see how you go on thurs - didn't have an amnio myself but the CVS procedure itself was fine.

Good luck for thursday. I had an amnio and was terrified but didn't find the procedure painful.
Sure you know this but they recommend taking it v easy for 24 hours after.
Best of luck. Hope it provides the clear result you need.

I was given 1 in 4 for Downs's Syndrome. Had ammnio at local hospital but sent results off for private testing because it took just 48 hours. Local hospital results took 2 weeks and I couldn't stand the wait.

All fine in the end BUT when it looked like a distinct possibility, I got to thinking that it would be good to know in advance of the birth so I could research and start to develop a network of local support and resources etc.

Best wishes.

Hi Cargirl - Yes I did have a look at the Turners Syndrome website and I think I could live with this outcome. I would also carry on the pregnancy if it is just Downs with no other severe problems. This will be our last chance to have a baby as our deadline was Dec 2009 so any decisions will not be taken lightly.
Lovely to hear from you peanuthead - Your story made me sob so much the other night but it was good for me I think. Will you try again?
Has anyone else carried on with a Downs or Turners outcome - what is life like and can you cope?
Thanks for all your replies. Will let you know what happens on Thursday. Hope I can sleep through the night and not wake again at 3am!! and not get back to sleep - its so draining.

Hi Loughglynn,
I've just read you're post and I'm so sorry you are going through this. Just wanted to say I have been there myself and continued with my pregnancy after DS was diagnosed with down's and a heart defect which was corrected at 4 months. I can't write a long post at the moment but wanted to say our DS has been the making of our family and I know we will never regret the choice we made.
I'm hoping that everything will work out for you whatever the outcome and keeping everything crossed.
Please keep us informed, there is fantastic support on these threads from other women who have been through this difficult time. ARC is also a great source of support. (haven't got the link but maybe someone will post it)

I havent researched Downs, but I have researched Turners - because my baby was discovered to have Turners. I terminated, but I should say that I terminated not because the baby had Turners, but because the baby had no chance of survival-a high percentage of babies with Turners die in the womb and mine would have done likewise, had I waited. Those who survive - yes they do seem to have a good chance of a fairly normal life, and my consultant did emphasize that if we had another Turners diagnosis, it wasnt necessarily terrible as it had been with the first one. So I would agree that Turners alone is not a reason to terminate.

It's so difficult, and I really feel for you. Good luck with the amnio.

I didn't know during my pregnancy with him, but my third son has Downs Syndrome. I found out the day after he was born. I am glad I didn't know, as I am not sure what my decision would have been, tbh. However, I am now TTC again and I know I will be offered an anmio automatially, which I will decline. I wouldn't actively chose to have another baby with Downs, but I wouldn't terminate either.

My son had two holes in his heart which were closed at 6 months old. He also has an eye problem called nystagmus, but it doesn't appear to affect his sight so far. Other than that he is perfectly healthy, and at 5 1/2 years old he has never seen the GP other than for routine vaccinations etc.

What is life like?! Pretty great actually! My son having Downs hasn't had a negative effect on my older children at all, his brothers adore him. he was an extremely easy baby as he literally never woke up unless he wa swoken at first. He didn't walk until he was three and obviously I would have preferred him to develop as quickly as possible, but you have to look at the positives and a child who doesn't walk until three is much easier!

Negatives would only be that at 5 1/2 he is still like a toddler in a lot of ways, whioch is occasionally hard work, and I stil have to use a pushchair. He doesn't understand danger,a nd, for exampkle, ran straight into the sea fully clothed and fell under one day when we were standing at the waters edge whilst walking our dogs. (is it bad I considered whether to go in after him in my brand new shoes for a second...?! )

My eldest son has it sussed really. He was eight when DS3 was born. I was trying to explain he had Downs and said he'd be a bit different and wouldn't learn as fast. DS1 just said 'so what?! Everyone's different, aren't they?' He's right. Ont h whole, having a child with Downs is not much different to having a child without it.

If I can help you in any way, let me know?

When I had dd 5 years ago, we were given a fairly high percentage chance of downs after the nuchal scan. I had an amnio and everything was fine. The amnio feels wierd but not painful (although the needle looks like a harpoon!).

However, I do remember the agony of waiting and the terror of what the outcome might be so I feel for you, I really do. I wish I could say something that would help.

Hi, again!

Here is ARC link.

I used to work with a lady with Turner's, she was a good 20 years older than me and as healthy and intelligent as the next person. I know from talking to her that is was a source of sadness for her that she herself had been unable to have children (infertility common in women with Turner's) but equally that she was a devoted godmother/aunt to various children in her extended family. She also told me that her mother had her when she was 25, she was the eldest of 8 !

I was lucky in that my boys are healthy although one of them carries the same chromosomal abnormality as I do which should not affect his health (just as it does not affect mine).

Hope time is not passing to slowly for you.

Thank you all for your kind responses - I am feeling a lot more positive.
Pacific - Thanks for the link and positives about Turner. May need to use it after Thurs.
Midori - thank you for your post it is reassuring. Does your child go to a normal school or special school? I won't be able to give up work should this pregnancy be successful as we can't afford to and I'm worried about who could care for my child for four days a week.

Children with DS or Turner's usually go to mainstream nurseries/schools- at least through primary (special schools are great btw - I have a son in one, none of his classmates have DS or Turners, the only children I can think of with DS in the school are teenagers, I don't know of any with Turner's). The advantage of being able to access mainstream rather than special school is that you can access childcare much more easily.

I currently work full time (although my son cannot access mainstream playschemes), I do want to reduce this to part time work from next autumn, but the majority of parents in his special school work in some form.

I have two other children as well who have benefitted considerably from having a disabled brother.

Update on Amnio- Had it on Thursday. It was ok - like an injection that spread across my tummy. No anesthetic was used as the doc said that would need 2 needles instead of 1 for the whole procedure. I was very tired yesterday and today but no real discomfort. First set of results on Monday evening and the rest in two weeks. The cystic hygroma had reduced slightly from 7.7mm to 5.4mm , hopefully that might be a good sign. Thanks Saintly for your post.

I'm so sorry you're going through this loughglynn. 4 years ago I had a baby diagnosed as Turner's with cystic hygroma, like Cantdothisagain we were advised that it was unlikely to survive the pregnancy or delivery. So we terminated. I was only 30 though which meant I had time on my side.

Keep talking to your dp, everyone has to make their own decisions. No matter what other people tell you, nobody really knows how they'll feel until they're facing the reality of making a choice like this. Everyone's family is different.I'm not sure if I would make the same choice if it happened again tomorrow but its impossible to know. Make the right decision for you all. Keep talking, keep talking.

I'll be thinking of you over the weekend, I remember how agonising the waiting is.

Well done for getting through amnio. First step out of the way!

I think the reduction in size of the hygroma is a v good sign. Mine was 8.8 mm when I had the nuchal - when I returned for the second scan it was over 10 mm and it just kept growing. So your situation sounds much better.

Have they managed to look at the heart etc yet? From you say it sound as though you were scanned recently before the amnio - if they had found something bad there presumably they would have told you. I really hope you get news of a healthy baby, chromosomally different or not.

Good luck, and do let us know what happens.

Fingers v firmly crossed. x

Fingers crossed here too. Let us know.

hi again. Got confirmation of Amnio that my baby has downs. They won't be able to tell how bad it is until the baby is born. I am so sad. Will need a few days to come to terms with all of this. I will need a lot of support from you ladies with a downs child as I am totally in the dark about all of this and what it will entail for our family.