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

Jim Jams and Mexico - I had confined Placental mosaicism like your friend jimjams.

The nuchal said high risk of chromosonal probs, the cvs showed up lots of chrom problems but the all clear was the amnio.

As I understand the amnio is conclusive as it gets. The cells are from the baby. The cvs is a sample of placenta which has develped at the early stages of development. 6 cells go to the placental and 2 to make the baby when 8 cells have divided. Rarely the cells that make the placenta have a fault in division. It's not known at the moment wether it's luck if the chromosonally 'damaged' cells go to the placenta and the baby is ok or if it's a selection process ie best for baby and the rest for the placenta.

The time with these tests was one of the most difficult for me. I send everyone going through this my support and best hopes.

fairyprincess- I know my friend didn't have cvs- (too late for it I think) - only amnio. The baby may be XY/XO mosaic-it may not have been placental- she was advised to test him after birth- but as far as I know didn't. The slightly strange thing about her case was that the nuchal indicated Turner's (XO- you get a very wide nuchal with that) so I don't know why they bothered doing the Down's DNA test. I know she got the 99% certain all clear for Down's (from the dna test) within a few days only to get told about the XO/XY mosaic a few weeks later (in days gone by I used to be a cytogeneticist so she rang me quite a lot to ask questions- although we weren't that close really- I moved away so we lost contact which is why I don't know the whole outcome).

The other thing to bear in mind with amnio is it can throw up all sorts of unknowns in rearrangements. For example you may get all sort of sex combinations XXY/ XYYY etc etc- the effects of which aren't necessarily that certain as they may vary. this is what I mean really by it being worth bearing in mind that you may not always get a straight yes or no. YOu may have a decision ready for what you would do for Down's, or trisomy 13 or something only to find out that something else is discovered where the prognosis is much less certain. It doesn't hapen very often, but i think it is worth bearing in mind. I know the whole XY/XO mosaic was quite a shock as it wasn't something that had been considered, and in the end they had to take a bit of a leap in the dark- and make a decision very quickly (not that they were offered a termination). They were able to get some reassurance from the fact that scans showed the the baby was a boy and that the development of the genitalia appeared to be normal. The pint being had they not had the nuchal + amnio they woulod never have known anything was potentially wrong, and the amnio itself led to more stress rather than reassurance.

This is why I think women should be offered councelling before having an amnio. After all it is an invasive procedure- and even if it does show Down's for example it can't tell you how affected your child would be (Down's is a spectrum condition and the learning difficulties etc can vary greatly between individuals). I just think women should have a chance to talk through all of this before making a decision.

The other thing to bear in mind as well is that if you do have an amnio and have a positive test for Down's then it is often assumed you will be having a termination. I have a friend who was told the operating theatre was booked- and she had hell of battle with the medical staff- she was put under a lot of pressure to terminate. Another reason why I think you have to be clear about what you would do given a particular result before having the test. My friend's son is now 10, but I'm sure it must have made an incredibly diffciult time worse.

Sorry something else I though of over night. Whilst a risk of 1 in 241 is a high risk for someone in their 20's its a very very good (excellent) risk for someone who is 40+ (perhaps impossibly good for someone 40 + - my aunt for example got pregnant at 43 and her risk was 1 in 25- she didn't have an amnio and the baby was fine). Age is always taken into consideration when calculating the risk factors. Always compare the risk factor you have with your risk according to age alone. For example my risk of having a child with Down's will be much higher than in my first pregnancy as I am now five years older. You probably realise this already- but just thought I would mention it.

Hi Jimjams,

I agree that help & support are very important. Also that when you get to the rarer conditions and results alot depends on the interpretation of the medical team. My team were very helpful and to the point. With the cvs my dh & myself gave blood samples so that the chromosonal arrangement could be checked against ours. I wish that I had known about mumsnet when I was going through this

dd nuchal was 5.8mm, cvs - lots of abnormalities, detailed scans right up until I gave birth (v. scary), amnio first result for downs afew days after (this was ok) but a long wait for the full results.

Mexico don't want to make you feel uneasy about what you're going through. My hospital, main teaching centre for country - told me that they would see perhaps 1-2 cases per year. All the best.

Good point jimjams. When I had my nuchal scan a few weeks ago I was surprised to discover that the risk for mothers aged 35 (i.e. me) is 1 in 200. As you say, a reassessed risk following a nuchal scan of, say, 1 in 241 is in fact a "better" result than would ordinarily be expected.

Good posts JimJams.

I think that if the hospital explained how a termination at 18+ weeks worked far fewer people would go forward and have the amnio. After all, unless you are prepared to risk m/c simply to know in advance (ie you plan to keep the baby whatever but are of the 'pre-warned is pre-armed' persuasion) you are prepared to consider a late termination once you sign up for the amnio. So to second what others have said, be very clear why you want to know and what your next steps are before testing.

Never had an amnio but have had 2 CVSs now - the last one yesterday - I had mine because the risk of there being something wrong was higher than miscarrying with CVS and although I don;t think I would do anything if there was something wrong I thing I would drive myself mad not knowing for the rest of the pregnancy.

I do not know anyone who has miscarried as a result of either amnio or CVS although I was told yesterday that the chance of miscarryig with CVS was higher than with amnio which I never knew. And I really would not store anything by individuals risks - I had my first with Prof Nicolaides and my second with his deputy and was given the risk of 1:100 in each case and they are pioneers in that field!!

Good luck and try not to worry. XXX

I have just come back from the hospital and am in shock. My nuchal scan shows a 1 in 44 chance of DS, it should be 1 in 114 at my age. I just dont know what to do.

God Honey - I honestly know how scary this is and I bet you are terrified - have you been offered CVS or anything like that??

Bunny - what did they advise you? Some further testing?

I had the other way - good nuchal but bad bloods.

Do you think you would have an amnio??

Lots of hugs.

Hi Lazyeye, it has taken over 3 years to get this far, I cant risk another miscarriage by having an amnio or cvs (they have offered me a cvs for monday). All I can shay right now is "shit". Eloquent eh? Why dod I have a nuchal scan?

Honey I am not sure that the fact that you have had previous miscarraiges will have any effect on the risk of having one due to CVS or amnio - how many weeks are you and where have you been referred??

I didn't have the amnio/cvs either - probably for same reson - 2 m/cs, plus thinking I prob wouldn't terminate - but like I say this was after bloods at 17 weeks so further along.

Its the hardest thing. Take some time, talk to a good m/w. Maybe look at the other threads on here.

Thinking of you

bunny, what would you do if the baby had got ds or another condition? if the answer is nothing then i wouldn't bother with any further testing. thomcat (whose dd has downs) is brilliantly qualified at explaining what her life is like & answering any questions you might have.

if, like me you would consider termination then ask if there's someone at your hospital (usualy a genetic counsellor) who you can talk to. I had amnios with both my pregnancies and although I found it traumatic, it was definitely right for me. hth

bundle, I dont think I would terminate unless the baby had a syndrome that was incompatible with life. I dont think I could deliver a stillborn baby and stay sane. There are different degrees of DS and a mildy-affected baby wouldnt be a problem (she says niaively) but I do worry about a child who needs lifelong care - I wont be around forever.

Bunny that is exactly what I think but I needed to know before I give birth - I don't think I could cope for the next 6 months worrying like I have over the last few days!!

Thats what you have to think about I think whether you can cope for the next 6 months not knowing.

Bunny - I am so sorry to hear your news. I can't believe you have yet more worry to deal with. Thinking of you.

Twinkie, I know what you mean. But, I dont think I could bear another mc. Also Im 38, my time is running out. This might be my last chance to have a baby. With a history of mc, subfertility and chromosonal abnormalities, I dont think will have another chance to have a baby.

Bunny, check out the thread I started back in Jan when I got my bloods back. I think Dino linked to it on the current amnio thread - sorry no good at linking.

You know, my thinking about the amnio changed over a matter of 3-4 weeks. At first I thought I would need to know to enjoy the rest of my pg. I was in turmoil for wks, doing sums in my head about the chances etc. Finally, I talked to a really good m/w - not my own who put things in perspective a bit. She told me how ds babies (which for some reason was the main concern for me with 2 other such young children) were no more demanding than others. She asked me point blank what would I do if the baby did have DS? Would I terminate? I was heading into the 20 wk by then so no, I couldn't. And suddenly, it all fell into place. If I wasn't going to terminate, what was the point? Okay, so I would "be prepared" but prepared for what? Nothing can prepare you for that. I might still get a shock yet in June and I must admit the fears are starting to come back, but there is nothing I can do now.

I would never try to persuade anyone one way or the other - its so personal. I'm just telling you how I reached my decision, and what a relief it was when I did. I can honestly say I never looked back once I had made up my mind. Lots of luck pet.

Thanks piglit, I do feel dh and I are getting crapped on from a great height. We have had so much to get through over the last 4 years, not only with having another baby and ds health problems but also with financial and legal probelms which might result in us losing our house this year.

Lazyeye, thank you too. I did read that thread and was further upset to read Zebras comment about lack of sickness being an indicator of DS, I have had so little sickness during this pg, much less than previously.

I opted for a nuchal scan because I wanted some reassurance, at least statistically I am still more likely to have a "normal" baby. An amnio might take away that hope altogether.

bunny, when I had my 1/30 risk of edwards syndrome (trisomy 18, I think), I treated it as if it was incompatible with life, even though some children do live (a friend says she's seen a 4 or 5 yr old with edwards at a paeds clinic she goes to with her dd)for some time. when I had my amnio (I had a v low risk of downs/neural tube defects btw) my consultant was v reassuring, saying the baby's fingers/toes were lovely (crossing digits is a marker for edwards & others I think). it's a very very tough call, only you know what is right for you.