Amniocentesis fears- can anyone reassure me?

[mexico]

Apologies if there are already threads on this, I am not good at searches! My triple test results have shown a higher than normal DS risk for my baby. I am 16 weeks pregnant. I am reaching the conclusion that to be able to relax at all for the rest of my pregnancy I am going to have to have an amnio, but I am frightened of the miscarriage risks. The risks seem high but no-one I know seems to be aware of anyone that has miscarried. How common really is it? What are others experiences of amnios? Any help is so much appreciated

bundle, how were you diagnosed with a 1:30? was it a nuchal scan?

Can I just say please that having a child with DS really isn't that awful. Sorry I know you pregnant girls are all worried and I do understand that you're scared, I would have been if I'd known I was carrying a baby with DS, but I didn't and I thank God that I didn't. I enjoyed every second of my pregancy, and I Lottie is the best thing that ever happened to me. People with DS go to school, have friends, relationships, can have jobs, live indepently. I know it can be scary, I'm there, I do know, but it is also wonderful. People with DS are people not just a disability or a burden to anyone. If your child is born with DS you won't love it any less, you might even love him/her more as you'll forever feel so proud of the smallest things. I'm not brave, special or anything like it. Children with special needs aren't born to special people. You just love your child as much as the next person. Having a child with DS really isn't awful, it really isn't the end of anyones lives. I'm sorry I really had to stand up and say that, I can't hear people say how awful it is and how they couldn't bear to have a child with DS without telling you my side which is that it isn't awful, it's wonderful and I'm so proud and haopy to be lotties mum. I hope I haven't upset anyone but I really felt I needed to share how as a mother of a DS child I feel.
I wish you all the luck in your pregnancies and I hope that you babies are all healthy and happy, which even if they are born with DS, they still will be.
Love TC x

nuchal result (which thinking back, I thought was fine, 2 or 3.something, well within normal range) combined with Barts (quadruple) test and my age (37 when pregnant, 38 when delivered dd2, who's completely normal).
I think the hcg level was low - and when I asked the consultant about it once we had the normal result back, she said I was probably at the low end of normal range for the hormone. babies with edwards (& patau's, I think) for some reason statistically make you produce less of this hormone, I suppose.

Thomcat, I dont for one moment doubt what you say. I already love my baby which is why I cant think abiout an amnio with its associated risks. I am still very shocked, it is alot to deal with after a very fraught 3 months (due to my mcs). What worries me more than DS is that my nuchal result could indicate another chromosonal problem which isnot compatible with life. I know losing a fullterm baby would almost kill me.

bundle, that is scarey, I suppose the fact that I have had so little sickness might indicate Turners.

Sorry Thomcat, I didn't mean to sound like that. For me, the fear is not that the baby will have DS - I know I will love it and your'e right - probably more - its the impact on the rest of my very young family & how I will cope. Those are my only concerns.

I'm not the best organised person at the best of times & don't have tremendous outside support. I think with a DS baby I could be struggling & I guess that was what I was trying to get across. I already love this baby and its not even here yet!!

I think your posts made such a difference to me when I was going thru' what Bunny is now - one of the main reasons I gave up on the amnio!!

One thing to bear in mind Bunny is that these are "just" figures. One way to look at it is that if there were 44 women in a room (includiing you) all of whom were at your stage of pg and the same age as you then only 1 of those women will have a d/s baby.

You must be going through hell right now. I have no doubt that you would be a wonderful, loving and caring mum to your db, d/s or no d/s.

Hugs (((((( ))))))

bunny it is a bit scary, but try not to worry about the sickness level - a lot of that is anecdotal, many of my friends had different levels of nausea with boys/girls/whatever.

bundle can you elaborate at all on this hormone business? Would a blood test now indicate more?

bunny2

I musts econd what bundle said, do NOT think for one second that the level of sickness has anything to do with the health of your baby.

My sister had the most wonderful pregnancy I know of, no sickness, no heartburn, not even tiredness (and she's the only person I know of who wasn't tired during the first trimester), none of the usual niggles related to pregnancy and her baby was not only fine, but the most placid baby I've seen (at least for the first year, then she became a toddler!!).

As Bundle said it's only anectodes, they mean absolutely nothing!

the quadruple test measures 4 hormones (it's the latest version, following on from the double, triple& supposed to be more 'accurate' -
alphafetoprotein, unconjugated oestriol, human chorionic gonadotropin and inhibin-A.
see here for a study on how they estimate your risk, according to how pregnant you are, and your age, so your triple results would be similar.

(sorry about the smiley, it wasn't supposed to be there)

a bit more here

Bunny you can also go to somewhere like Kings for a more detailed scan - they will spend longer and have much more experience - the lady who did mine last night said that there were no 'other' pointers than the nuchal result that hinted at anything being wrong - she mentioned the nose bone too and although my sonographer at my local hospital did not set much store by this the consultant at Kings did and TBH I think I trust her a bit more!!

She also said that as did the original sonographer that the nuchal scan is just a pointer and many women have babies with DS and other conditions that are not picked up as many women have the CVS and amnio and nothing is wrong.

Go for another scan - even if you say you are going to have CVS get there and then decide not to according to what the specialist says - he will do all the measurements and the risk assessment again and ask you before he does it - it may put your mind at rest.

Am keeping my fingers crossed for you - it is so difficult to go through it and not to feel like there is no hope but out of the 44 of you in that room you all should have hope not because you may have a perfect baby but because you will have a baby that to you will be perfcet and that you will adore.

Thomcat - I made DP read your article in Eve - he cried too - he said he has never read anything that touched him so much and it completely changed his view of children with DS - Thanks I did not have to explain to him that if this baby had DS I would do nothing he knew himself and your story and Lotties adorable little face just reassured him that things would be ok either way. XXX

And Bunny tomorrow or the day after if you had the nuchal scan the result would again be different as the baby grows so much and the position the baby in also counts for a lot - my little one keeps flexing his neck backwards so it makes it very hard to take an accurate reading in the neutral position.

I know you all understand how I feel, and I know how many of you feel too and I wasn't upset by anything anyone said as such. It's just that I can't not say anything about how positive I feel about having Lottie in my life and really how wonderful she is when people are discussing being scared of a child with Down's syndrome. I truly understand that it's a scary time for expectant mothers and I sympathise 100%. I adore Lotbags and she is the perfect daughter, I wouldn't change a thing about her but of course no-one actually prays to have a baby that WILL have DS!! I just want to try and reassure anyone that feels worried that's all. The only impact I've ever known a child with DS to have on anyone is a positive one. Lottie doesn't have any special needs really and by the time they start to become more apparent I won't even notice or think about it. People with DS are really just like you and me, just slowed down versions, that's all.
I'd rather be me with lottie and DS then my mum with her daughter, my sister, and her crippling OCD which means she can't leave the house let alone pass exams and live indepentantly.
I'd rather be me with Lottie and DS then my friends mum and her son who is a heroin addict.
I'd rather have Lottie with DS then my step-father and his self-harming, really mixed up daughter.
There are no guarantees, but I at least know what living with a child with DS can mean and bring it on!!

Don't read into sickness! Please it's so variable - and for me depends on how tired I am amongst other things.

Bunny2 - reading your posts it sounds as if you don't want an amnio. You can ask for extra scans though to give more information. Also the nuchal would give some idea of downs vs turners (turners have very large nuchal folds). FWIW I have more friend's who have had various nightmares with the nuchal and then had nothing wrong. IN fact the majority of my friend's with children with DS were not picked up during pregnancy.

The reason you get a different m/c rate following cvs and amnio is becuase the cvs is done earlier- at a time when "normal" m/c are still occuring. Most specialists reckon that the number of m/c caused by cvs are the same as the number of m/c caused by amnio ie about 1%. It does happen though- my friend used to work in a cytogenetics lab attached to a place that did amnios and she saw it happen a number of time. So it is worth remembering that. And again that's why you have to be very clear about why you are doing something- becuase if something did go wrong then you have to be able to cope with that iyswim.

The more I see of antenatal testing the more I wonder whether it really is helpful in this sort of circumstance. I worried about things like DS etc when pregnant with DS1. Autism never crossed my mind (although I was fascinated by it and had read a lot out of interest- still didn't occur to me) and that of course is what we ended up with. After almost 2 years of "normality" it did prove that nothing is guaranteed- hwever many tests you have. TBH from my POV I have a lot of friends who have very dysfunctional relationships with their parents- and I think that would upset me more than ds1 needing lifetime care (although the thought does scare the shit out of me- I don't think about it).

Oh I think me and T/C are saying roughly the same thing. 99% of people who have a disabled child don't know they are having one- but there are a lot of disabled children out there. I can understand why people choose not to have a disabled child when given the choice (and like bunny2- I would terminate for something incompatible with life) but it is worth remembering that that doesn't guarantee you won't get a disabled child- or having a test that shows your child has no chromosome problems doens't guarantee you won't have a disabled child. There are never any guarantees with children. That's the only certainty!

Thanks for all the responses. I am feeling quite calm now. In fact, as there has always been the issue of Downs at the back of my mind because of my age, I have quickly come to terms with the risk. Everything I have read here and on other sites is so positive about bringing up a child with DS and I think I am strong enough to cope. WE cope with ds's health problems on a daily basis, it is just part of our life now and we think nothing of it. Thomcat, your posts are a real source of inspiration.

My biggest concern right now is that the chromosonal abnormality might me much more serious / life-threatening than DS. Does the nuchal fold thickness identify Patau Syndrome or Edwards syndrome? Anyone?

Jimjams, thanks for that. Presumably very large folds (as in Turners) are bigger than 2.6 mm?

Bunny - yes a thick nuchal fold is also a pointer of these and I think more than this - they said to me last night that I would have the results regarding downs in 4 to 5 days but the other results within 14 days, I told them that these were the results I was worried about not the DS ones.

Twinkie, so a cvs will pick up any chromosonal problem? I think you are very brave, I cant face finding out.

Yes both will tell you for sure as they get to look at the cells of the baby and its genetic make up - I don't think I am brave - I think I am a coward I wish I had the conviction to not have it done - it bloody hurt!! I don;t mind if this baby has downs it was everything else - the things that aren't compatible with life that I will not be able to handle - I went through my sister losing a baby late in pregnancy recently and that screwed me up and it was not even with mine!!

But at the end of the day I have spent the last 2 years in a state of emotional turmoil and i really don't think carrying a baby ad being all over the placve will do me or the baby or my relationship any good. I had the test - they were brilliant - it went well and the lady reassured me that she thought all would be fine - I saw the heart and it seemed to have all 4 chambers beating nicely and all its bits in the right places so I feel a bit better now and you have to remember I have been through this before and have a wonderful perfcet DD so I can look at her and think that I am sure all will be ok.

www.harris-birthright.org/

above is the web address of the Harris Birthright Centre - look on there it should answer all of your questions - are you supposed to go there or somewhere else - as I said though you can go and say you are having the CVS, get the scan done again and then say no I don't want it knowing that people who are trained in this sort fo thing and do it everyday have caste their expert eye over it!!

buynny2- I had a chat with the sonographer at Kings when I was having my nuchal for ds2 (as my friend with the XY/XO mosaic was having her amnio at the time). he said that Turner's folds are huge- in the region of 10- if I remember correctly (which was the sort of size of my friend with the XY/XO mosaic).

I'm not sure about Trisomy 13 or 18 and nuchal scans- although really Patau's and Edwards should be picked up from more detailed scans- they do have a lot of problems- athough of course they can be missed- but I think a good sonographer looking for the problems would spot them.

YOU MAY NOT WANT TO FOLLOW THIS LINK *WARNING**
this a VERY emotional website- it is the life story of a little boy with Patau's- a photo album and comments basically - and it blows me away every time I go to it. However it is very emotional- so please be warned before reading it (if you decide to) It changed my view on Patau's (I thought they always died within hours of birth- but apparently it is quite common for them to live months/or a couple of years). As a result iof this site I really have no idea what I would do if I did show up as having a high risk of Patau's- so please be warned about that before reading it as well. It's here- baby sean

I think you're brave Twinkie- especially having gone thorugh everything with your sister. Everything crossed for you.

Twinkie, wiht your dd, your risk was high so did you go for any further testing?