A risk-free blood test for Down's syndrome in pregnancy

[emkana]

apologies if there's already a thread on this

Don't read the comments though, some of them are blood-chilling

I don't understand why this is new.

Dd1 is 16 and I had blood-testing for Downs Syndrome with her and my other dds. I had to ask as it wasn't offered, but was done in the end due to my age. With dd3 the ante-natal clinic got annoyed by me wanting the test even though I said I had no intention of terminating the pregnancy.

I don't think it is the same test WTH. It is not clear but I think this is a blood test that actually gives you a diagnosis, unlike the AFP/triple test that gives you a probability of a diagnosis (requiring further testing if you get an above average for age probability) from what I can gather.

Oh I see . Yes, it just gave probabilities I think it was 1 in 110 for dd3. I know none of them were ever considered high risk.

I can't decide how I feel about this tbh.

One the one hand I think that if you are certain that you would want a termination in the event of your baby having Downs Syndrome then my feeling is that the sooner you had such a procedure the better for all concerned.

On the other hand I really worry that this test would be dished out routinely without appropriate counselling as it is so much easier and less invasive than amnio or cvs.

I really believe women should be given all of the choices that they want regarding their fertility but somehow I worry that this will mean that some women will have a test that they would not have actively chosen to have iyswim.

The test is interesting

)The comments are beyond belief, do these people not understand that people with Downs syndrome as well as parents and family members would naturally be drawn to this story and will read the awful things they have said

All knowledge is good. What you do about it is then up to you, but always better to be making an informed decision.

Yes, some of the comments are horrible.

Is it Down or Down's? Some of the posters are saying Down is correct.

not a happy news item really. but I suppose there are some parents who wouldn't terminate so wouldn't risk an amnio who can now get answers and be better prepared for their baby's birth.

Do you think it really makes that much difference to know before birth? Just thinking out loud. I just don't think it's something you can 'prepare' for because it's such a broad spectrum, so you don't really know how affected your LO would be until they grow a bit and because all the preparation forgets to tell you that you love them just as much as any other child you have and in the same way.

I mean even ds1's diagnosis aged 2 gave me no indication or preparation for the ds1 we have aged 9 iyswim.

I suppose it could give you the illusion of being prepared!

I suppose it means you could get the telling the relatives bit out the way before birth.....

I guess prepared in the sense of expecting medicalisation/professional involvement in your child's relatively early days. and also possibly in terms of having further detailed scans to check for heart problems.

I agree jimjams.

Dd is so, so far nt, but she is in no way really the child that I'd imagined I'd have but I couldn't love her more.

Apart from immediate medical issues eg cardiac and bowel probs which still wouldn't be picked up until detailed scan at 20wks or birth, I'm not sure that saying "yes your dc has DS" really truly does give you that much more info about how your lfe will be. Saying that things will be different to how you expected them to be without being able to say for definite how much different and in what way isn't that much info at all imo.

I didn't test because Mum has Spina Bifida Occulta and didn't know till she was in her late 20s. I thought if my grandmother had tested she could have been aborted when she is perfectly fine. I take high dose of Folic Acid because of it, but I wouldn't abort a baby because it had something wrong with it, so I'm not going to put it at risk. Most things can be picked up on a scan anyway. I know of someone who recently had a very late abortion because the baby had half a jaw.

We did not do the test - did not think it worth while - would never abort - however NHS kept pesting to do one - got rather annoying. In the end DW had them put it in her notes!

oh tinkerbelles that's interesting. I went to school with someone who had spina bifida - she had to wear one shoe slightly higher than the other and had a very slight limp. It was that experience that put me off antenatal testing!

I think Flashman's experience is quite common. I know someone who had an amnio- came back positive for DS - she decided not to terminate but came under enormous pressure from the health service to do so.

I do think with these tests becoming perhaps 'easier' there needs to be decent high quality counselling so that people can choose the right decision for them. Neither choice is without consequences.

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And what annoys is that the test is not acurrate enough - woman DW works with had a posative first test - then had a couple of weeks panic then a negative result on second test.

havent had any screening this time either.

there are worse things in the world. after the last 4 years, i think we would cope with pretty much anything.

agree riven. there's no 100% guarantee against illness/disability for any of us or our children.

Agree with totalchaos that even if a person has no intention of terminating, the early news could prepare the couple psycologically, at least in dealing with friends and relatives' reactions.

But more importantly on the medical management side, many babies with ds have ASD and other congenital heart defects that would require immediate post-birth monitoring, possibly intervention. The doctors can also arrange for the baby to be born in a hospital with the facilities to do such monitoring, as we know babies are being turned away from SCBU where the hospital does not have the facilities or beds.

Presumably women will be allowed to say no to such a blood test, in the same way they can currently decline the current tests of nuchal fold screening etc.

Also, if a couple want to test, surely it is better to have a relatively low risk non-invasive elimination test for ds than the current choice between an inaccurate non-invasive screening test (nuchal fold, existing blood test) with its relatively high proportion of missed or false positives or v. highly invasive elimination test with risk of miscarriage (amnio, CVS). On that score alone, the new blood test is a significant improvement.

The article attributed the development of the blood test to Hong Kong. But when I was in Kings College Hospital in South London - Harris Birth Right (which is a centre of excellence for neonatal medicine, particularly prenatal testing) for my screening, I was asked to give an additional blood sample so that they could use it to research whether you can conclusively test for Downs Syndrome with just a blood test.

So I believe it is not just HK that has been researching this area.

what riven said( dd disability was caused at birth)