Downs-High risk-please advice........

[mum2oliver]

Friend 30yrs old-1in 589 chance of having a downs.
Nucal tranluscency 2.2mm-this is normal.
Bio chemistry adjust was 1 in 297.

Combine adjust is 1 in 172.(combination of the above 3things)

Can anyone advice my friend on how they have cme up with this figure of 1 in 172 if all the other 3 are so high?
Can anyone explain anything about the test she has been offered for Friday?
She is 12 weeks so the flued is being taken from the placenta.Thanx

Hello

I assume she is having an amnio or a CVS test ? The one with the big needle directly through the stomach and into the womb ?

BTW - "Having a downs" - prob not the best turn of phrase...

Hello mum2oliver
I imagine this is a CVS test at 12 weeks. It carries a 2%MC risk but if done by experts this risk is greatly reduced. It will give a definited yes or no on whether baby has Down's syndrome.

Not sure how they get the first figure from nuchal scan etc, but those things are only a measure of probability anyway so not much use if you want to be sure.

is bio chemistry adjust blood tests?

I thought you weren't supposed to combine blood tests with nuchal tests

I thought combining them provided erroneous data

btw I thought that miscarriage risk from amnio is thought to be 0.5% .. not 2%... ie 1 in 200 .. but much lower for experienced practitioners

I wouldn't say 1 in 172 is that high TBH .. 172 chances of not DS for every 1 chance that it is .. pretty high odds if you ask me

1 in 172 is classed as high risk though isn't it? I remember DS came back at 1 in 179 and was classed high risk (180 the cut off). If it hadn't been classed as high risk I would have accepted the ratio, it was the label that upset me, I was unprepared for a "high" risk result. I ended up having a nuchal fold scan and a fourth hormone test.

Im so sorry to anyone who may be offended! I feel so bad.Its exactly how my friend has frased it and when she told me I was so shocked that I didnt even notice how she had said and I dont even think she did.I strongly apologise.

Spoke to midwife friend and she said that the cut off is 1 out of 250.
Now my friend has been told this she has to have the CVS as she just wont be able to stop thinking about it.
Does anyone know the definite answer of how many people end up having a miscarriage from CVS?

don't know the definitive answer but I think your friend needs to seek more information herself.

Having a child with down syndrome is not the end of the world - instead the beginning of a whole new world. I have a 4yo with down syndrome and have gone on to have another dd and am expecting my third.

My chance of having another child with down syndrome at this stage was 1 in 58 - rather a higher chance than your friend. With my second pregnancy it was around that as well.

I never had a CVS or amnio with my three pregnancies. Dd1 - hard marker of a heart defect that placed my chance around the 1 in 5 - anomaly scans showed definite characteristics of a child with down syndrome. Why did we not have an amnio or CVS _ because to us - it would not make a difference. This was our baby and she was going to be born. Having said that - we had friends who had children with down syndrome and it wasn't something to be so fearful of - despite the views of a number of medical professionals.

A high risk nuchal translucency result can be related to more conditions than down syndrome - which unfortunately is something that most medical professionals forget to tell women.

That phrase 'having a downs' is incredibly upsetting - you are having a child - first and foremost who may happen to have down syndrome. The biggest thing I have learnt since having my daughter - is how like other 4yo she is rather than how different.

Unfortunately having invasive testing such as CVS and amnio do carry a chance of miscarriage and I guess for your friend she has to weigh up that chance against her chance of having a child with some condition.

I would say if your friend is adamant she will not have a child with down syndrome then go ahead and have the CVS and she can then do what she wishes with the further information. If it makes no difference then I do not see the point of putting yourself through such invasive testing - just how I feel about this.

I do think she needs to seek more information regarding down syndrome before she makes such a life changing decision ( either way). It appears she does not have a real view of children with down syndrome.

Unfortunately the only information I have regarding amnios and CVS is that of the babies that are miscarried after the testing - 3/4 of those children have no conditions and are in fact NT.

DSA UK website this might be a good starting point.

it is my understanding that the miscarriage rate from amnios and cvs is approx 1% - it can be a little less in the hands of a very experienced practioner or a little mroe in a less experienced.

There is a mum who I have just emailed who will be along later - she also has a child with down syndrome and had a CVS with her second pregnancy and another mum who has a little one with ds and I think had a CVS with her third. HOpefully they can shed more light on the subject.

Just another note that there are alot of other disorders that can show up on the amnio (deletions, trisomy 18 etc) I had an amnio for treatment reasons and assumed things were Ok when they ruled out Downs, sadly I later found out our baby had a much rarer and more severe disorder. All my screening tests were clear.

For this pg I am probably not going to have tests. It is a very hard decision though.I hope your friend is Ok.

eidsvold
Im so sorry about the phrase or how I put it as I have already apologised.She is 100% sure that she would not cope with a child who has down syndrome.She will definitely have the test but this si certainly not to be offensive to those who chose not to.
Everyone in this world is so different from each other-woldnt it be a boring place if we were all the same.
Thanku for your advice and opinions.

I think she has to decide what she would do with the information - ie would she terminate? People havea tendency only to think of the test as giving them a 'negative'; - ie everything is okay, what if its not?
If she is going to go ahead ask the practitioner how many s/he does on average and her/his miscarry rate. I was told some Drs actually do it 'blind' which made me go cold...

I am just curious as to how much your friend really knows about raising a child with down syndrome. There is so much misinformation out here spread by medical professionals regarding their so called quality of life and their life span as well as their ability to live independent lives.

I just think it is a tragedy to terminate a child simply because they have down syndrome.

Again - she needs to speak with her consultant/GP etc to discuss other conditions far more serious than down syndrome that are also picked up by cvs and amnio as well. I feel she has not been given enough information by her medical carers in order to make a truly informed decision.

I guess in that case your friend has to weigh up her chance of having a child with down syndrome or some other condition detected via amnio or cvs - given that they are can have far more serious implications for life than down syndrome and her chance of miscarrying a child with no genetic condition and consider which is the least worst - iyswim.

as has already been said, the miscarriage rate varies from around 5%-1% depending on the practitioner.

I do hope your friend find the time to actually find out what DS is. She sounds terribly ignorant - how would she feel if she aborted due to this incredibly warped view and then met someone later on who either has DS themselves or has a child with DS and lived a perfectly happy life?

Children with DS are not harder to cope with than children without - my dd with DS is the easiest of my 3 children, not because she is a passive imbecile or whatever your friend might think children with DS are like, she is just the friendliest, most helpful and thoughtful one of the three.

Edisvold kindly emailed me to tell me about this thread and to see if I could help.

Not sure I can really though tbh. You have the info you need so I don't need to repeat what's been said there.

But I do need to talk a bit about how sad I feel at this thread.

You've apologised for the line 'having a Down's' but that doesn't stop that line being like a punch in the stomach. Is that really how people still think / speak? PEOPLE with Down's syndrome, are exactly that, PEOPLE and they happen to have Down's syndrome. I'm not having a go at you as I know you've said sorry but it's just so upsetting that there is still SO much ignorance out there.

It's not just that this unborn child is refered to as a down's {feel sick typing it like that) but that you're friend has already made her mind up she couldn't cope. How can a life be dismissed so easily?

With the greatest respect I'm not going to go into one about how amazing my DD is and how much she gives and how funny and cute and how big a part of our lives she is and how the world is a better place for her being in it. I get the feeling none of that matters.

TC

I do not think for one minute that mum2oliver's friend dismisses a life "easily". I know you feel strongly about this, and so you should. But termination is chosen by many women for many different reasons, medical and social, and though I feel sad that this happens, I support the fact that they have the right to do so. I would have terminated my second pregnancy if we'd have had a positive result for Edwards Syndrome, which my consultant believed I had at a higher risk than I should have. Thankfully, everything was fine. As you know the whole area of screening/testing is fraught and a very very difficult time for everyone involved.

I totally agree about your point re: language when referring to people with Down Syndrome.

how can anyone be 100% sure of anything? how on earth can someone say they are 100% sure they would not cope with a child with DS? i don't understand that myself and am actually and that someone can even bring themselves to say that. you're talking about human life here! my dd's best friend has DS so i've had a fair bit of close contact with her obviously; i could go on about what a wonderful child she is and how my dd's life has been enriched by knowing her but this sounds somehow apologetic/defensive in some way and i don't see why anyone should have to apologise for or defend the right of any child to be loved simply for who they are. DS is not 'who' my dd's friend is and it doesn't define her! sorry just feel quite at this thread; i know opinions differ but i feel very strongly about this and actually this thread is quite upsetting, must be even more so for parents of children with DS imo ...

It's upsetting for everyone. I can say I was absolutely certain I would have terminated my pregnancy if the baby would have had Edwards Syndrome, even though it would have been very very hard for me.

Bundle, I may well be wrong, please God I am, but it feel very much as if this mum, at only 12 weeks pregnant, and going through testing now has already decided that she 100% couldn't cope 'with a Down's'. Seems to me very little research could be done in that time and therefore led me to think that this life could be being dismissed a little too easily, hence I asked "How could a life be dismiised so easily"?

I don't not support decisions to terminate, as long as they are informed, well thought out decisions.

And terminating for Edwards is different from being 100% sure you could couldn't cope with a child who has Down's syndrome.

With regard to having a son or daughter who has Down's syndrome - what's not to cope with??????????????? I honestly don't get it. I'm here living it and can't see what's so hard. It's not always easy, but what kid is?

TC, I know it's different (Downs/Edwards), but I honestly have to respect her decision. And yes, I think she can have decided that by 12 weeks.

children with Edwards syndrome have something like a 5% chance of surviving to their first birthday. that's a fairly major difference for a start.

it's not the point that people can't decide to terminate pregnancies; it's surely the point that they need to think about this decision carefully and from all angles and mum2oliver's friend seemed to be talking about DS with all the understanding of someone who has done a quick search on google...

Yes she could have decided it at 12 weeks, looks like she has. But I don't think that at 12 weeks and only just going through with the testing now she can have reseached all the facts and thought long and hard about it. Not arguing about this point anymore, you have your opinion and I have mine, both based on very little fact, neither of us know anything about the mother so......

well, I very much doubt that the OP's friend has done any research at all into DS - this phrase - 'a downs' - it's like saying you're having a spaniel or something, not a baby who will be just as delightful and come with the full set of needs and feelings as every other baby. It's a real smack in the face for parents of children with DS, or people who actually know someone with DS like cath. (I know you've apologised - I'm not having a go at you, just getting this out of my system)

Like TC, I completely fail to see what's so 'uncopeable' about having a child with DS.

Just to add one comment, whilst I know how hurtful it must be to read, I am sure that the OP intended no offence, and she has apologised.

My son has a cleft, but occasionally people still refer to it as a hare lip. I don't like it, but they don't do it to hurt me or him. I just try to throw 'cleft' into the next sentence, and perhaps hope I've helped them to see the preferred option.

and you know, yes we have to respect it etc., etc. - but people like this ignorant friend will be the ones who will make dd's life hard when she's older, talking over her rather than to her, proably saying that " 'they' shouldn't be allowed out on their own", "'they' shouldn't be allowed to be married ", and "'they' should have been prenatally detected and eliminated"

I'm sorry, but why should I have to be respectful of the fact that someone feels, without giving it any thought, that children like my precious dd should be killed off in utero because they're so bloody awful to have in your life apparently?