anyone had an amnio and can give advice?

[wendyredhead]

I've decided, because of my age, to skip the tests and just go for an amnio and hope for the best. Just wondered about any personal experiences you might have had.

Gess,
I think it was only me who was misinformed about exactly which conditions are detected by an amnio, although the NHS and netdoctor websites seem to imply that any chromosone disorders would be looked for by default, in addition to

cystic fibrosis
spina bifuda
Muscular skeletal disorders

That seemed like "lots" of possibilities to me. But now you're saying that "they" only look for three trisomies plus anything just one or 2 other things they're asked about specifically?

I am getting my amnio done privately, will phone the clinic up to confirm what the amnio will check for when I can conquer phone phobia.

Sorry, Fiofio, didn't mean to offend you. I won't try to clarify anything in future. Exit stage left from this thread, now.

Hi Fio, yes, I think everyone worries a bit about their baby - pregnancy is so mysterious and you can't see the little buggers in utero! Being older does make the chance of Downs go up substantially, and that can be a worry. It's not really IMO saying anything negative about children already born with Downs to say that. I mean, If I got pregnant tomorrow, I would worry hugely about autism/aspergers/adhd. It doesn't mean I don't love and adore the little boy I have with Aspergers.
I imagine it is hard to deal with a developmental delay with no known cause - I gather from some of your posts that it does seem to have been damage done at birth, which is really bloody sad I think.

yes - e.coli- agree with all that. I've just seen repeated stews with both screening and amnio. So many people seem to end up on an unecessary worrying conveyor belt. For instance people don't often realise that sometimes you get a 'maybe' result with amnio. A friend's result came back as a mosaic result but for some reason (no idea if this is standard) they couldn't tell whether the problem cells were in the placenta (in which case baby fine) or in the baby- in which case a difficult to predict degree of problem. She did have a dodgy post amnio time as well. In the end all worked out fine, the baby was apparently fine (I say apparently as they decided not to test the baby once born and leave the decision up to him- so he may have had a degree of mosaicism).

It's a complicated area- and the results are often (in the case of screening) and sometimes (in the case of amnio) not clear.

I agree much more discussion is needed about what you want to be tested for & what the tests involve and will show. A. We had screening tests because we wanted to know about anencephaly - but we were very clear before entering the process that anything else picked up would be disregarded- that was by the 3rd pregancy- things were far hazier in the first.

I chose in the end not to go down the amnio/cvs route with dd. From the moment I saw her on the scan I couldn't bear to lose her and that was that. The scans were all 'good' and reassuring, but of course I still had a tiny germ of worry. I honestly thought I'd have the cvs but couldn't do it when it came to it. But I'd never judge anyone who did.

escondia - its probably just a veiwpoint- with ds1 attending the school he attends full of children who wouldn't have been picked up it seems like not very many iyswim.

I also had/have no idea which genetic tests are standard (& it would make sense to tailor tests to individual risk categories really- no idea whether they do). Just wanted to make sure people understood that looking at the chromosomes picks up very few conditions- most need to be specifically tested for.

Ironically, I am absolutely certain ds's Aspergers and dcd are both genetic! But of course, untestable for.

My ds is another case in point where the amnio came back clear and then over time it emerged that he did have a genetic condition (dwarfism), but this only became clear through scans and only by week 27. By then they did offer me another amnio to do a gene test for the most common type of dwarfism, but I didn't want to go through the worry of going into premature labour.

An amnio doesn't give you all the answers.

How is your lovely boy Emkana? Any more news on a dx? How is his chest?

aloha, thanks for asking, he's doing well atm, touch wood - but they're going to do a bronchoscopy in early September which I'm not really looking forward to.

In November we're going to see a new geneticist, one who specialises in bony dysplasias, we'll have to see if that brings us closer to a diagnosis.

Have put new photos in my profile, btw!

How is your ds, and what's going to happen when term starts again?

He is SPECTACULARLY gorgeous Emkana! HOnestly he is. He is really beautiful. Ds is fab, but I'm dreading the new term and trying not to think about it. But bless him, he's been so cuddly tonight.

But FIo and gess - I would hazard a guess that most people who have a pregnancy where something is picked up antenatally will choose a termination - therefore there are not many babies born who have conditions picked up antenatally. It doesn't mean that hundreds of babies aren't found to be carrying genetic conditions.

well there are certainly fewer children with DS at the lower end of the school, although I also know a number of people who found out their child was very likely to have DS and kept the baby (and more children with DS have always been born to younger mothers- in absolute terms- just not %'s). It's an SLD/PMLD school- and the biggest group lower down are severely autistic - where the numbers are rocketing (in fact one reason there are fewer children with DS lower downs the school is because they are more likely to be successfully included in mainstream during primary years). The other big group have birth injuries, a smaller group with meningitis etc damage.

And yes you're right that lots of children with DS are terminated (more last year than were born). I just meant from my point of view where I'm sat, and in living my life, it seems like very few conditions are picked up (really very few are- there are way more out there waiting to get you than can be detected). Of course if DS is a big worry to someone and they want to discount it then amnio is an option. My point has only ever been that if you have invasive testing do be aware that its not giving you an all clear for everthing, or even (from my point of view mixing with the people I mix with) very much at all. BUt yes of course it will tell you about trisomy 21, 13 and 18, and other conditions providing you ask for the specific test to be run.

Yes, testing for DS just by testing older mothers used to pick up 30% of babies with DS ante natally - but the new nuchal and blood tests are meant to pick up 85% because the younger mothers get tested if they are high risk. So you would expect numbers to be falling.
I was slightly confused by your earlier post (about not knowing anyone who had their child's condition diagnosed prenatally) in that I thought you were talking about conditions which can be diagnosed prenatally rather than birth trauma and autism..hence my last post.

Well at least this convo is taking my mind off the trauma that is home life at the moment

Yes Gess, totally agree with you on that.

I was quite amazed by my friends attitudes towards birth for example - mine was 'oh god, let us both live' (birth trauma always in my mind) whereas their's was more about having a 'good experience'...but hey ho..

No- I guess my point was shit happens and usually in a way you can't prepare for it. So of course do the tests etc, but if its invasive do go in eyes wide open. DS1's school is for the 'worst' in the area and really I don't know anyone with a child whose condition would have been picked up antenatally (except the children with DS of course). I don't in my wider circle of friends either. I guess having lived through svereal years of watching ds2 and ds3 with a 1 in 30 risk or whatever it was of history repeating itself, I'm a bit - don;t know- suspicious- is that the right word? of how much you can actually prepare for.

Emkana I oftn think of you when I think of people getting into a horribly anxious time surrounding testing with no clear answers - even a year post birth (although a gorgeous and beuatiful baby at the end of it).

That's all off topic though and a bit philosophical- the main point was always - you may nt get a long list of conditions checked for, and many won't be noticed unless specifically looked for.

we're x posting- I know what you mean - the 'experience' was never that important to me

Wendy, I've only just seen this and have not had time ti read the thread so I apologize if I'm repeating anything. I had aqn amnio eith both pregnancies. With the first, I was initially pretty sure that I would terminate if a problem showed up but more doubtful as I waited for the result. (Shorter wait with ds2, btw since we did the FISH)With the second I was pretty sure that I wouldn't terminate but still wanted to know all the information I could. Amnio does give you a lot of information but doesn't test for everything. For instance, cystic fibrosis is first screened with a blood test and if that comes up as positive then you move on to specialized testing of the amniotic sample.

For me, it was a way to put my mind at ease about certain things as I am a professional worrier I also like to be as prepared as possible and so consider any available knowlege a good thing. In the end it is a very personal decision and I wish you the best of luck with whatever you decide.

HTH

not had an amnio despite being high risk - knew my child had ds before she was born - decided not to have amnio even though Nicolaides would have done it. Simply because I knew this was our babe and we could not terminate the pregnancy. Dh and I would deal with whatever happened.

Have since had two other babes - high risk due to history and age ( and with dd2 higher risk again with something that was shown up on the 20 week scan) - only test I had was last time - had a nuchal translucency screening and came back with a low chance of my third child having down syndrome.

Gess - depends on the genetic counsellor - I 'had; to speak with a genetic counsellor prior to my nuchal translucency screening and she sat there across from me and the 2 dds trying to tell me what it was like to live with a child who had down syndrome. She then served to correct valid points that I raised with her ( of course having done my research) and another time she told me I was flat out wrong - when I wasn't. Made me very concerned for other women that she may have counselled.

When my nuchal result came back 1 in 962 - improved from 1 in 56 - she suggested that I have further testing just so I know!!! I declined.

In 2002 when my dd1 was born was the first year I think ( from hazy memory) that more babies with down syndrome were terminated than were born.

In response to the opener - if your child is found to have some condition - what will you do next - you really need to have that sorted prior to having the testing as the results can cause all sorts of responses within you and I think the whole thing can be made less stressful( well marginally less stressful) if you decide ahead of the game what will happen eg. if the baby has down syndrome and you would terminate then by all means have an amnio - if it would not make a difference to the baby you are carrying then to my wya of thinking and it is just my way - no point in putting yourself through a very invasive test and stressful wait for tests.

Agree with eidsvold- especially having seen someone who did start bleeding post amnio (she was told she would probably lose the baby- although in the end it settled down). I think that knowing what you would do given certain results is an important part of the process with amniotic testing. Although of course its hard to know for sure until you're in the positon.

Eidsvold - did you ever complain about the counsellor? I've heard you describe that situation a few times and it always shocks me each time. It sounds as if she couldn't quite grasp that you already had a child with DS that you loved every bit as much as dd2 (I find people often have real difficulty grasping that- that the child with severe learning difficulties is loved as much as and is as important and as much of the family as the child without). Was she very newly qualified (asks hopefully??). I agree it is a problem. I also think its very difficult to get positive advice from medics about carrying a baby with DS to term. I know someone else who continued with a pregnancy knowing the child was likely to have DS and she came under a lot of pressure from the medics who seemed to think she was deluded. Another reason why I think its important to know as much as possible what you want and what you will do before starting testing.