Anyone had Chorionic Villus Sampling after high risk of Down's at 12 week scan?

[LittleMy34]

We have just booked to have a CVS test after being given a 1:24 risk of Down's Syndrome and 1:71 of Edward's/Patau's Syndromes. Our nuchal fold measurement was 4.8mm, which is apparently pretty high.

Anyone had similar results and decided to have CVS or Amnio? Anyone decided not to have the tests? How did it turn out?

Apparently the baby might also have a congenital heart defect, based on these results - yikes.

Any thoughts gratefully received.

How can anyone compare an animal rejecting its own if not perfect to a Mum and her baby ????

Thats really sad

and maybe a bit of a thoughtless comment to make....My Baby was perfect, but nearly died of Meningitis at 8 months old

she has special needs now, should I have rejected her when she was on a life support machine and we got told her brain would be damaged ?

Im not having a go at you rubyriley, Its up to you what you do, no one else. I have my own thoughts and veiws , but we are all allowed them and they will always differ to others

But I do think you have be more careful with how you put things

I am sure you do not want to cause upset and offence

I'm sorry if it caused offence it's quicker to type Downs than a person who has Downs Syndrome and there is limited space on these forums in a world of political correctness. A friend who has worked with special needs young people with varying degrees of disability told me that he could understand anyone making a decision not to continue with a Trisonomy 21 pregnancy(can I call it that?) because he knew of affected people whose parents had died after years of caring for them and they had then to go into care homes; a tremendously distressing shock for them. Quality of life and whether we have a right to terminate a pregnancy is a very deep conversation and probably both sides are right depending upon whether you feel you could cope with a disabled child in your life. Perhaps you attract experiences into your life because you need them, and all decisions you make are the right ones for you. For me, I am grateful that I was involved in the 3 stage screening pilot and whilst it was a very upsetting time, I know that we made the right choice for us. Maybe not for you, but for us.

Not sure if this is helpful really. Ruby and I went through something similar and came to the same decision. We did what's right for us and the OP was asking about the specific process we went through. There's no need to second guess the question or challenge the decisions that were made.

I think we all do what's right for us and all I want to do in this thread is share my experience with people going through something similar.

No, my children are not disabled because I need the experiences- I nursed for several years (and would disagree with your friend as have come across some wonderful nursing homes), my children are the way they are because they have a genetic difference, tis all. Even the Buddhist principle of karma wouldn't hold ime that you attract suffering: it would suggest that the disabled eprson in a previous life was perhaps overly independent or proud and had to experience dependence: it would however also hold that as this is a life phase we must all experience therfore disabled people are as valid as the rest of us.

Most people don't have a choice of chance to make decisions that are right or not for them. That doesn't mean that people shouldn't have that choice- but that its misleading to assume that everyone with a disabled child has chosen to. I don't know anyone at my son's SLD/PMLD school who knew they were having a severely disabled child (many were birth injuries, or post birth injuries anyway).

My son (whose condition cannot be picked up antenatally) is far less independent than the 'average' child of his age with DS, and we expect him to need 24 hour care for the rest of his life (he has a normal life expectancy). Most adults with DS require supported living rather than 24 hour care. Thaty would be the 'norm' if you like. Your friend was a bit misleading. My son will probably leave home at 18/ish/early 20's (as I expect his NT brothers to). Partly because he has his own life to lead (not mine) and partly because no-one in their right mind manufactures a situation where the parental death will lead to their learning disabled child losing their home. Madness indeed.

Words are important - not just political correctness. I accept my son being called learning disabled (although actually in some areas he is not, in some areas he is bloody gifted- his visual memory is far better than mine for example), but I would not accept him being called retarded (he's far from retarded).

I'm not btw making any judgements on here about your decision. I am pro choice for anyone and any reason, but as this thread may be read by people making decisions about invasive testing wanted to clear up some mistakes (namely that adults with LD's are routinely left at sea when their parents die and that everyone/the majority of people with a disabled child have made that choice).

I have two children, aged 19 and 10, both of whom I love dearly. They are not "perfect" but I love them unconditionally nevertheless. What I'm saying is that I would always defend any woman's right to terminate a pregnancy in the event of an abnormality that would seriously affect their quality of life (can't think of a way of putting it without causing someone offence! And not saying that a "child XXXX" doesn't have some/good quality of life)A mother's love is unconditional but we are in a modern world and why would you knowingly bring a disabled child into the world, unless you felt you could cope and wanted that pregnancy to continue. I know the nature comment sounded harsh, I was trying to get the message across that I'm sure most women feel, that their natural instinct would surely always be to have a child who was "normal" (no way of describing without causing offence!)

The OP does ask about decisions to not have CVS etc - not just the actual experience of it.

The only pregnancy I knew I already had a severely disabled child already was with ds3. We decided against cvs/amnio etc. We decided to have a scan and the triple test in the hope that it would pick up anencephaly (and I guess other 'incompatible with life' condition). So that was the pregnancy post disability experience. With ds1 and ds2 (so pre-disability experience we decided the m/c risk was too high).
Same decision but made for different reasons iyswim.

'why would you knowingly bring a disabled child into the world, unless you felt you could cope and wanted that pregnancy to continue.'

I was agreeing with your post until that sentence ruby. Ouch! Well most don't know. But in the case of ds3 - we knew he was at a very high risk of being severely disabled with the same condition as ds1. There is no test (and if there was I wouldn't have it). Any risk of DS was going to be lower than his risk of Ds1's condition. DS was probably going to be easier to cope with than ds1's condition (assuming no medical issues- in terms of day to day management, prognosis for semi independent living etc). We decided there was no point terminating for DS when we could go onto have a different child with ds1's condition.

Why did we have ds3 - when we knew he was at high risk of a severe disability? Because we knew we'd love him.

I suppose the other issue on this type of thread is whether DS 'seriously affects quality of life'. And that's where the threads go pear shaped. Some say yes, I think most of the mothers of children with DS on here would say no. I don't know. There are lots of things that ds1 cannot access (far more than the 'average' child with DS) but he has a good quality of life. I don't think his quality of life is any different from his brothers really. DS2 is very jealous of the things he gets to do at school. DS1's condition probably affects my quality of life far more than his, but a lot of that is to do with the system rather than the disability.

Wow - this thread has turned into a full blown debate since I left the house a few hours ago! I wish I'd not posted now - I was only offering my recent experience to the poster and thought having had a happy outcome for us as a family, against bad odds, may make her feel less stressed.

Now the tone of the thread has made me realise why I rarely post - I'm always scared of being shouted down, told I've done wrong or feel like I've just been shouted at. Really don't need that with a little one and another on the way.

I'm sorry if any part of my posts, language etc has offended anyone - really didn't mean to.

Good Luck Littlemy34

Agree with yurt for a few reasons- first because I did post my direct experiences of choosing not to have Amnio as OP requested; but also because I am pg with no 4 and have 2 children with the ASD gene already. nobody can tell me what the chances of this having ASD are, PAed says 20 - 80% so I guess you could say that I ahve choseen to bring a child into the world with ASD, or at elast that I accept that risk fully. Of course, ASD (like DS in amny ways) is a variable condition, baby could have ASD and be so mildly affected it won't matter, baby could also be hugely dependant on me for life. I hope not, I hope baby will be NT (neurotypical the accepted MN term for what ytou call normal, btw ) and therefore a support / friend for ds2 who is NT. And ic annot truthfulyl say I am coping too well atm with his eldest brotehr, whose ASD is mild but rpesents in a challenging way. But I do hope I will find a way around any problems that repsent, and I wknow I will love the baby no matter what, which ime is enough. Ultimately.

I suspect your friend mainly ahd ocntact with severely disabled poeple with DS. I used to be the 1-1 keyworker with a chap with ds who required 24 / 7 care, certainly he was exceedingly demanding but also he was great fun, wicked sense of humour and everything. Working with the most severe can tarnish your outlook as much as never having met a disabled eprson ime- when I first reaised ds1 had symtoms of ASD I was terrified as we had an ASD lad at the unit who atatcked me (I now understand why of course- I looked like his Mum and there was a complicated history). To get a good starting point though you need to experience all levels of disability.

Ruby, I beleive that the decision you amde was right for you and I really do wish you all the best. It's nto for me to judge at all: I simply entered this thread because of relevant experience of a high risk DS pregnancy.

I hope this doesn't blow up in your face, RubyR. Or that you have a very thick skin.

MN has a very strong community of parents to children with SN. They have their own culture and ways of talking about disabilities, I expect you don't mean offense but you keep treading on sensitivities with certain phrases (like "normal"). I got told off for using the word "dumb" to mean anything other than mute, the other day.

I do feel confident that if you might terminate it's usually better to find out sooner than later. Hope things come out ok for LittleMy34.

Ruby said 'we are in a modern world and why would you knowingly bring a disabled child into the world,'
Werll, it being the modern world (and by that I'm assuming you mean western world), actually makes it easier to have all sorts of people.
I would ask why would anyone bring any child into the world? And I don't make any distcintion between disabled and non-disabled children. Everyone has strengths and weaknesses regardless of any labels and any non-disabled child is only temporarily so. You're only ever one accident/illness away from disability and all of us will be old and frail one day.
No-one who doesn't have children knows if they are going to 'cope' with any child but for some reason, disability is looked on as something awful and terrifying. Well, it isn't. I'm disabled and my quality of life is the same as anyone elses. DD has severe CP (happenend at birth) and she is as happy as her non-disabled children. What is 'quality of life' anyhow?
And the term is 'non-disabled', not normal. Children with disabilities are part of the normal human variation.

I think we expect perfection too often in our kids. Even NT kids can grow up to be drug addicts or what have you and break their parents hearts.

pmsl at 'own way' of talking about disabilities. It comes from disabled people themselves, not a bunch of mothers making up their own code!

Choosing whether or not to go for invasive testing is not an easy decision as the choice has potential major consequences. There are 2 extreme viewpoints, both get expressed and one will make sense to whoever has the difficult decision to make. There are some previous threads where people who have had testing talk about regretting it (so that kind of adds a third pov I guess). I guess ulitmately people go with their gut. But perhaps its sometimes good if possible to hear the diffrent views before rather than after the event. One webpage totally rocked & changed my attitudes towards trisomy 13 (not going to say how) for example and I started my pregnany with ds3 pleased I'd seen it.

I've never met another child as happya s my ds3. he doesn't have moods or off days or anything (probably because he's so sensorily impervious tbh), and lives each day in a joyous fashion.

Flack I do appreciate what you mean and yes these threads can turn funny, but if you read carefully I dont think this one has. Variable of opinion yes: not the same thing.

I did terminate last Sunday and it was very upsetting for all the family But it was the right decision for us and the whole point of screening is to give you the choice. If you have the screening and use a negative test result to prepare yourself for your unexpected arrival, then that is your choice. My choice was never in doubt, I do not regret my decision and I would make the same decision again. I really don't have to explain myself to people with opposing opinions and apologise every time I write a word that they consider to be politically incorrect. When you are experts in an area, you have an array of "correct" wording that those who aren't in the know haven't. It's not really very fair to judge people on that basis Everyone has the right to make their own choice and that is why every woman has the opportunity to be screened. When your screening results show you have a "problem" you have the right to a termination if that is what you wish.

Ruby sweetie, I did deliberately sue the after explaining it was NT so you would know I wasn't judging. I'm sorry if you thought I was offended, I wasn't. I was actually pleased you asked- how else would you know?

It must have been hard and horrid to make that decision and its not even something I can imagine. I came onto this thread because I made te ereverse choice and the OP asked for a range. But what's right for me isn't right for everyone. I hope you and your DH are OK, and send you hugs and all the best.

Thanks Peachy, my comments weren't particularly aimed at you Can I also say that I have seen some delightful photos on profiles of children with Downs Syndrome, so I'm not disputing the happiness that clearly these children can give to their parents and the pleasure they can get out of life. It was a personal decision for me and one that my DH and family supported; a decision that I've no doubt thousands of women make every year, and they shouldn't be made to feel that they ought to have continued their pregnancy when a problem is identified if they choose not to do so, just because other people sometimes do.

i came back high risk for the triple test and had an amnio. dd2 is feeding right now, all tess were clear. my empathies for what you aRE going throuh though- absolute hell

Blimey, turn your back for a second and the thread goes crazy! I just wanted to say thank you to Rubyriley for your original post - it was a brave one and I hope you haven't regretted your decision to post.

It helped me immensely to hear from someone who has taken that tough decision - we still don't know what we will do if the results aren't good, but hearing from people in all types of outcome is really helpful, so thanks again.

DP and I have talked about this long and hard and come down the conclusion that the moral rights and wrongs don't help us much in this situation - we can only make this decision based on what is right for us and our family. And that's all we know right now!

(ps - note new Christmas name!)

Also (sorry slow typing) wanted to say thank you to all of you who have posted about your experiences of children with DS - it's very helpful and I agree that there is not enough information/experience for people to understand the realities of life with DS and make informed decisions.

Personally I had a rather distressing experience of knowing someone with Down's Syndrome as a child, not going to go into the details, but it has very likely coloured my feelings on the subject. However, hearing all sides of the issue definitely helps me to develop a balanced view.

Good luck LittleMint I hope you get the results you want. I must confess I half read the thread, (the beginning and end as it was then), I thought you were still deciding whether to have CVS or not (when the experiences of life with severe disability are valid). I probably wouldn't have posted had I realised you'd already had CVS.

I read these threads partly because I used to work in cytogentics (although not human) so often I can 'interpret' medical confusions (of which there can be many surrounding nuchal and more invasive testing) etc a little more than the averagee lay person (I'm very much a lay person but with more knowledge than average), but I wouldn't usually post my own experiences of disability when someone has already made the decision to have a test.

I promise to read threads in entirety before posting in future.

Hi yurt, well, I posted before having the test, and the thread has continued after having the test, so it's a little of both!

In our case having the test was not a case of knowing we would terminate if the results were bad - but more that we would like to know in advance so we can either make the decision not to go ahead, or prepare ourselves for what the future holds.

I'm an information junkie, I like to find everything out!

So in fact your posts, and all the others on people's different choices and outcomes, are very useful and will continue to be useful should the results show DS or something other than NT.

Just wanted to add my very best wishes for you in this difficult time LittleMy34. My thoughts are with you xx