New test for antenatal testing for Down Syndrome

[eidsvold]

Just came across this - developed at the hospital where dd1 was born 5 years ago. IN fact today 5 years ago was when we finally got to bring her home.

not sure how I feel

actually do know

[Millarkie]

From a purely technical point of view - I can't see how this is likely to become mainstream testing as at the moment the testing centres are in major citys and are few and far between - a large chunk of the time taken for FISH/PCR at the moment is taken up by sending the amnio/cvs sample to the nearest testing centre (most of the first day I would guess).
Unless they were thinking of setting up testing facilities at all local general hospitals which would wipe out the cost saving.

From a non-technical point of view I am very umm suprised at them testing for DiGeorge syndrome when some people carry the DiGeorge deletion/mutation and have no symptoms of it.

[eidsvold]

gess Howard Cuckle is the man ( amongst others) who advocates antenatal testing and termination for babies with things like Down Syndrome and Cystic Fibrosis as it is cheaper to do that than to provide medical care post birth - okay dd1 had two open heart surgeries but since then - very little medical care needed so really swings and rounabouts.

howard Cuckle who also refused to allow adults with down syndrome to address a conference he held either last year or 2005 regarding genetic testing etc - huge media storm - wonder what he was afraid of.

shared the info with dh as I said earlier he used to work in NHS and at Southend Hospital. New Chief Executive is an old colleague of dh's. but had to scoot out to a meeting so have not had a chance to chat with him about it.


very very very shoddy journalism tbh.

[gess]

ah look at his other interests....

[eidsvold]

geekgirl you would find this interesting

i agree with her

[eidsvold]

oh yeh!! he is a full of it

[eidsvold]

this is the conference

here

interestingly the article reports that only 10% of babies with birth 'defects' make it to the delivery room I knew dd1 was an elite baby!!

[eidsvold]

tbh he strikes me as not giving a crap

the other thing I do fio is give threads like that ie testing etc and the one that geeky mentioned a big swerve.

[needmorecoffee]

What great articles. And I really think that testing and the reasons why should be debated openly. Why does disability = wrong/better off dead? What is it in our society that leads to this?
And just what do they think of when they think 'better off dead'?

I must admit that before I had DD I rarely gave the matter any thought. I never had any testing because it never crossed my mind but I did wonder what if there was something 'wrong' with the baby as all the leaflets they give you talk about wrong wrong wrong. Not one ever mentions anything except tragedy and heartbreak. So when it happens to you (DD was born with severe CP) everyone whispers about your tragedy. While I'd rather DD didn't have CP for her sake, I would have had a better early babyhood with her if someone had said 'yeah, that sucks but she's still a baby and a person so celebrate that and not concentrate on that one aspect of her'. But no-one did. It took me 2 years to stop thinking about the tragedy and start questioning why people saw her as 'wrong' and 'oh, if you'd known beforehand you could have aborted her'!!!!
It has been a huge learning experience to break out of the mindset about disability (and I'm disabled myself) that says its ok to kill disabled babies. Peter Singer, the ethicist and animal rights guy advocates 'terminating' disabled babies up to one month of age, so you can catch the ones testing missed!
When people's mindsets change then allowing abortion on the grounds of disability will be unacceptable and women will get proper advice and support.
I hope I haven't upset anyone but to me, culling anyone, of whatever age, on the grounds of disability is unacceptable.

[needmorecoffee]

True Fio. And even havinga 'perfect' baby doesn't guarantee wondrous hapiness. They have their own minds, children, and grow up to do all sorts of things that can make you sad.

[expatinscotland]

My SN child was a far easier baby than my NT daughter!

[needmorecoffee]

I wish I'd known some of you lot in DD's first year. I feel like I lost her babyhood because she was in hospital for 36 weeks with seizures/CP related problems/nearly dying etc etc. And it was all medical speak and no-one saw her except as a problem with bits that could be solved through medicine. Took me a long time to see her as herself and not a medical diagnosis and now I feel bad about that. How could I have been so stupid?
But then I now try and get other poeple to see DD as herself rather than 'what a shame' or 'bet you're glad the other 3 are ok'

[gess]

I remember that article eidsvold (about the protesters). What a great article. I wonder if she made any of the great and good consider their views, probably not.

The other article eidsvold- agree with you too.

[lourobert]

needmorecoffee. That could have been me that wrote your last post. I got lost in all the medical hype when my son was first admitted with IS. I remeber that wed only been there for a couple of days when a doc came in with 2 students. He went on to say " 5 months old child, EEg showing hyps, developmental delay....blah blah and at that point i said " and by the way his names xxx"

Ive got a friend who is pregnant with her 2nd at the moment her first is the same age as my son. her son is NT but Ive found out that shes paying to have the nuchal scan, I know its becuase of my sons problems and it broke my heart when she first told me.

[berolina]

Great post, geekgirl.

ds is NT, but we are close to a couple whose little boy has DS (and Hirschsprung's, which has in some ways been the tougher thing for them all) - my friend says she is asked frequently whether she 'knew beforehand', i.e. antenatally. Can't believe how difficult and infuriating keeping having to field this question must be. The way all the testing literature goes on and on and on about DS must be hard for them too.

I found it very alarming how, in both my successful pgs, my gynaecologist really pushed an amnio (I was 28 in the first pg and 30 in this one, and had no particular reasons for having one done and had no other antenatal tests, no bloods, nuchal etc.) in a very matter-of-fact way - 'here are the forms for when you have the (the) amnio done'. We didn't go for it. This assumption that everyone must want this degree of 'pregnancy insurance' (which is of course flawed anyway, as many of you have pointed out) I found rather chilling.

[Peachy]

I've noticed a lot of the poeple on my antenatal thread are being offered or have opted for nuchal . made my views clear (ie i'll have the scan- as a lack of one to detect a heart condition contributed to a cousin losing his little life- but thats it). They seem very erm, (and i ahte to say this) patronisingly accepting. (most haven't mentioned mind you)

I would challenge them to look at ds3 and tell me that ahd there been a test for ASD, he shouldn't be here. They couldn't, not if they are human.

[mymatemax]

Normally i'm all for choice, but its societies assumption that people should not choose to go ahead with a pregnancy that is deemed "less than perfect" that I find so frightening.

A neighbour once asked me if I regretted the SCBU care that DS received & wouldn't it of been better to "let him go".
FFS he was with me & she thought this was a perfectly acceptable thing to say.

[needmorecoffee]

I do get people asking if we 'knew' about DD's disability before she was born. It happenend at birth but the unspoken assumption in asking that is that we would have killed her if we'd known. So I will say, no, we didn't know, but it wouldn't have made any difference, why should it?
It makes me cross but its so hard to explain why to most people.
Hence DD's t-shirt witha saying on that I read somewhere
'There's nothing wrong with me.I am meant to be this way.'

[TotalChaos]

Yep, I can see why you are uncomfortable with this report. As so often testing seems to be a prelude to a termination. And I really think it's none of my fecking business and irrelevant whether somebody knew about their child's SN during pregnancy or not.

[eidsvold]

when i get asked if I knew beforehand about dd1's sn I used to say YES. but then I realised they usually viewed me as some right to lifer ( which I am anyway) or some martyr etc.

So now I put it back on them - cause they are usually medical professionals - why? does it make a difference to her medical care?

I got so infuriated both times when pregnant with dd2 and 3 when everyone assumed I wanted every test under the sun and people were shocked when I said no. WIth dd3 - the assumptions when I opted for a nuchal translucency screening was that we would go further. The genetic counsellor was shocked when I said whatever the outcome we would be having this baby and that I knew with dd1 beforehand and it made no difference - to the pregnancy or our feelings to dd1.]

I also think no one knows the potential of a life until it is lived and who am I to say - your life is less worthy than anothers. Just my very humble opinion.

[needmorecoffee]

Maybe they are trying to make conversation cos they don't know what else to say. I know saying it happenend at DD's birth makes people uncomfortable. Can't be tested for after all. My friends son became brain injured at 8 months old. That can't be tested for either.
My GP said that if I ever became pregnant again he would getme into testing early (!) and of course I'd have a c-section. When I pointed out that CP rates have remained the same despite sections rates raising he got a bit narky.
I shouldhave asked him outright if DD made him uncomfortable. We now see one of his collegues cos he would diagnose everything she had as 'part of her CP' until I blew up one day and shouted that 'she was allowed 'normalpeople' things like ear infections! Then ordered him to check everything like he would for any other child. Things got a bit strained after that. Sigh.

[PussinWellies]

Peachy -- my SON asked me if we would have aborted him if we'd known he had AS (he'd been listening to something on the radio about antenatal testing).

Ouch.