New Non invasive Down's Syndrome Test

[rosalux]

I heard a discussion on Radio 4 this morning at about 7.40am about a new test they are pioneering to detect Down's Syndrome via DNA at approx 12 weeks. Does anyone know anything about this?

No, sorry, I don't, but I was seriously peed off to hear about it on the news the day after I had a CVS!

Yes - although last I heard it wasn't going to be widely available for at least another 5 years. Which is annoying given I'm 1 in 34 and waiting it out solely because I do not want to do invasive testing!

Oh well, maybe my grandchildren will benefit

Unless there's some new development and it will be available sooner or they're looking for people to do a trial?

Ah, here we are:

www.bbc.co.uk/news/health-12160618

I see Prof Nicholaides is in on it again!! I saw him at my last scan at the Fetal Medicine Centre and told him why I didn't want to do an amnio. Suspect if there was a trial he'd have mentioned it. Curses.

I know this is probably a very controversial and unreasonable view but I wish they'd put more effort into finding a way to prevent or fix it, rather than let's just diagnose it and then the woman can deal with it!

But I am coming from a bitter place on this subject, so I'm sure I'm just being unrealistic

Debs, there's not really anything you can do to prevent it or fix it. Having children earlier certainly makes the risk smaller, but that's about it.

I think there actually is research into gene sequencing or something like that to try and reverse the effects of it. But that is unrelated to fetal medicine as far as I am aware.

I know, like I say just being unreasonable.

I guess I just hate the whole fanfare over new ways to diagnose when diagnosing leads (or can lead) to such heartache.

Anyway unreasonable griping over

I've been there, I know

As the parent of a son with Downs, I resent the idea that there needs to be a 'cure'. Downs is a part of who he is and I would not change him for the world, he is wonderful.

Everyone is different and we should embrace that within society instead of shunning people who are very different.

I do think non invasive testing is great for those who want to know and whilst I cannot stand the idea of women terminating for Downs, I do think they should have that choice.

I'm not suggesting there should be a 'cure' I'm saying I hate the fanfare of a new diagnosis, like it's fine we can diagnose and you can deal with it. If they're going to do something useful, I think there's better things they can do.

That's all I was saying and I made it clear I am coming from a very bitter place on this, so probably do have very raw feelings.

They requested additional blood from me when I went for the cvs at kings which they explained was for the development of a non invasive test. Presumably they are using the results of cvs and amnios against the blood samples to work out accuracy. Would be happy to give pints if it means no one has to go through a cvs / amnio again.

I want to know, but I don't want to terminate, so it's a long, long uncertain wait.. currently 23 weeks so still a long wait ahead. This test would make my pregnancy so much more pleasant whatever the outcome was!