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> Testing for Downs syndrome, options

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my3beautifulboys
post 06/02/2013, 06:59 PM
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Hi Ihave just got my Bfp, very exciting. Abit of a history, i have 3 healthy boys, i had my first at 33, then 35, 37, and then i sadly had 3 recurrent and unexplained m/c. So if all goes well this time i will want testing to see all is ok. I believe that they do the Nt scan as routine now at 10 weeks, then there is a an amnio and antoher test cant think of what its called right now?

I was just reading up on the web and came across a site saying that a blood test is available for DS testing, is that right or not, or isnt available in Australia yet?

I would be happy to hear youre thoughts please?

Eta; i am nearly 41 and Dh is 43, so it does put us in a higher risk category, i think its about 1/41 change, which is fairly high.

This post has been edited by my3beautifulboys: 06/02/2013, 07:01 PM
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TillyTake2
post 06/02/2013, 07:03 PM
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I have never had the testing but I think it is a combined blood test & scan done between 11&13 weeks.
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babyinabackpack
post 06/02/2013, 07:08 PM
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With the NT they normally do a combined scan and bloods.

BUT there is a new test they can do that is just bloods and is apparently even more accurate than an Amnio but completely risk free.
I'm based in Taiwan and it is offered over here, and I think in Europe and Canada, but from questions I posted on here and also some I asked friends back home there, noone in Australia seems to have heard of it yet.
We didn't get it done as it was crazy expensive (about $700! compared to just $30 for the NT and bloods).

Good luck!
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Missy Shelby
post 06/02/2013, 07:09 PM
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With all of my pregnancies I have had this testing, I think it has been available for quite a long time in Australia.

http://www.betterhealth.vic.gov.au/bhcv2/b...serum_screening

The link above should give you a bit more info.
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HGL
post 06/02/2013, 07:11 PM
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Yepp, Downs is now tested with a blood test at 10 weeks and a scan at 12 weeks. They combine the blood test results with the scan results and give you a
'probability' of Downs. Note this is just a screening test, not a diagnostic test. If probability returns high they may suggest a CVS or amnio. I think an CVS is done around 13-14 weeks and amnio at 15 weeks. CVS and amnio is diagnostic tests and does give you a definite result. However there is a risk of miscarriage with CVS & amnio. HTH
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starboard
post 06/02/2013, 07:12 PM
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I had DS in May at the age of 37. I had the NT test at 12-13 weeks and if the outcome showed high risk for Downs, I'd be offered the amnio. I don't recall any other test being discussed.
I have a sibling with Downs so I had genetic counselling in both my pregnancies, I only recall NT and amnio.
Will try and dig out paperwork from the genetic counsellor and have a look through it for you.

ETA- CVS... completely forgot about that!

This post has been edited by starboard: 06/02/2013, 07:14 PM
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Tamzin1984
post 06/02/2013, 07:22 PM
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There is a new blood test available which I think is performed around 16ish weeks from memory (read about it in a magazine only recently..). The theory is that they've worked out that some of babies cells actually leak into mum's circulation, so they aim to detect those cells and perform genetic testing on those cells. Obviously, because it is just performed on a blood test from mum, there is no risk to the baby like an amniocentesis or a CVS. It is not 100% foolproof, but gives a much higher certainty than just the NT scan and usual bloods. From memory I think it costs around $2000 as the samples have to be sent overseas for analysis, and it can only be collected at certain hospitals/facilities as the samples have to be processed in a particular way.

This post has been edited by Tamzin1984: 06/02/2013, 07:23 PM
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HereComesSun
post 06/02/2013, 07:24 PM
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I think this is the new test you're talking about (not yet readily available in Australia): http://www.australiandoctor.com.au/news/au...n-syndrome-test
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Tamzin1984
post 06/02/2013, 07:31 PM
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Found the article, its in the latest Cosmo Pregnancy magazine.

Test can be performed as early as 10wks.
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silver-rain
post 06/02/2013, 07:35 PM
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I recently went through this process with my current pregnancy as my combined serum test and NT scan came back with a high risk result. I'm not sure if you can request further testing if your results come back low risk, but maybe chat to your treating physician?
There was no blood test mentioned to me at the time, only the CVS and amnio, but according to recent studies and the paperwork I was given about the procedure, the risk of m/c following an amnio is actually no higher than the risk of m/c without the amnio, I think the current stats are 1 in 200 after 13 weeks of pregnancy. No sure about the CVS, we didn't go down this path.

Good luck , OP, congrats on your 4th little blessing, hope all goes well!
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