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Testing for Downs syndrome

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#1 my4beautifulboys

Posted 06 February 2013 - 06:59 PM

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.

Edited by my3beautifulboys, 06 February 2013 - 07:01 PM.

#2 TillyTake2

Posted 06 February 2013 - 07:03 PM

I have never had the testing but I think it is a combined blood test & scan done between 11&13 weeks.

#3 babyinabackpack

Posted 06 February 2013 - 07:08 PM

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!

#4 Missy Shelby

Posted 06 February 2013 - 07:09 PM

With all of my pregnancies I have had this testing, I think it has been available for quite a long time in Australia.


The link above should give you a bit more info.

#5 HGL

Posted 06 February 2013 - 07:11 PM

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

#6 PattiODoors

Posted 06 February 2013 - 07:12 PM

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!

Edited by starboard, 06 February 2013 - 07:14 PM.

#7 Tamzin1984

Posted 06 February 2013 - 07:22 PM

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.

Edited by Tamzin1984, 06 February 2013 - 07:23 PM.

#8 HereComesSun

Posted 06 February 2013 - 07:24 PM

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

#9 Tamzin1984

Posted 06 February 2013 - 07:31 PM

Found the article, its in the latest Cosmo Pregnancy magazine.

Test can be performed as early as 10wks.

#10 silver-rain

Posted 06 February 2013 - 07:35 PM

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!

#11 item

Posted 06 February 2013 - 07:36 PM

I happen to have had a conversation with a perinatologist friend recently and yes, the blood test screening is now available. It doesn't have the same % certainty as CVS or amnio, but obviously is lower risk.


Edited by in(s)ane, 06 February 2013 - 07:38 PM.

#12 my4beautifulboys

Posted 06 February 2013 - 07:37 PM

Thanks for youre replies, i know that the Nt scan which is a blood test and a combined scan which is only a screening test, it doesnt tell you for sure if you are carring a DS baby or not? That s the one the CVS was the other one i was thinking about, as well as the Amniocentesis, which are both invasive and do have a risk of m/c, but are accurate.

Oh really it sounds like the blood test one i read about isnt available in Aus yet then, $2000 thats very expensive. babyinabackpack; you said it was $700, where do you get that test done then?

Tamzin1984; i dont read that magazine, it sounds like it could be the same link as HereComesSun posted? You said its done at 10 weeks, is that is Austalia or overseas? Thanks

#13 Bunsen the feral

Posted 06 February 2013 - 07:40 PM

If you are in Sydney the new blood test is done through RPA and sent to the US for analysis - I believe it costs around $2000. I assume your GP or OB would be able to refer you.

#14 my4beautifulboys

Posted 06 February 2013 - 07:42 PM

Thankyou all for sharing, and thankyou siver-rain for youre congratulations, yes we re very excited and hope it all goes well this time.

in(s)ane; thanks, oh really is it now available to us, could you please let me know how i find out more information about it, and who to go to , is it only certain clinics that do the test. What is SUFW?

ETA; Sorry i should have though of that, i just googled it, a womens clinic in Sydney. I actually live in W.A, but i imagine my Gp would know of it, or could put me in contact with a clinic that does.

Edited by my3beautifulboys, 06 February 2013 - 07:44 PM.

#15 item

Posted 06 February 2013 - 07:49 PM

QUOTE (my3beautifulboys @ 06/02/2013, 07:42 PM) <{POST_SNAPBACK}>
I actually live in W.A, but i imagine my Gp would know of it, or could put me in contact with a clinic that does.

It might be worth calling SUFW or RPA and asking a bit about it.  It may be that if the test isn't available in Perth, your blood could still be collected and channelled through a clinic in another state.

Congratulations, and best wishes for a lovely pregnancy.

#16 Tamzin1984

Posted 06 February 2013 - 07:59 PM

I would suggest speaking to your obstetrician about it.  The article said that RPA is the only public hospital that currently offers the service, but a range of private hospitals are also able to do it.  If your OB isn't able to help you then as in(s)ane says, give RPA a ring and discuss it with them.

#17 againagain

Posted 06 February 2013 - 09:46 PM

Why don't you send a message to the ladies in this thread, this sounds like the new test people are talking about.


#18 my4beautifulboys

Posted 06 February 2013 - 10:40 PM

Thankyou all so much for youre best wishes and for sharing youre thoughts. I'm not able to make an appointment to see my Gp until the 25th Feb, as he is away. But when i do i'll ask him about the special blood test, and in the meantime i might make some inquires myself, and perhaps ring Rph in Perth, like you suggested, or SUFW clinic.

Thanks againagain for the link to the other post, i will send a message in that post.

#19 babyinabackpack

Posted 06 February 2013 - 10:50 PM

QUOTE (my3beautifulboys @ 06/02/2013, 07:37 PM) <{POST_SNAPBACK}>
babyinabackpack; you said it was $700, where do you get that test done then?

I didn't end up having it done, but it was offered to me for around that price here in Taiwan where I am currently living.
I had never heard of it and couldn't find much information about it so we decided not to get it done.

#20 Rolex

Posted 07 February 2013 - 06:58 AM

Congratulations!  I was so happy to read this from you, OP.  Very happy for you that you've fallen pregnant again so soon after your last MC.  I also have 3 boys, and had 3 consecutive MC before this pregnancy, and thankfullly all is well this time.  I have everything crossed for you that all goes perfectly for you with this one as well.  Good luck!

#21 Natttmumm

Posted 07 February 2013 - 07:45 AM

I think your chances maybe higher based on age but after the screening you could get much lower chances. You could just do the screen which is bloods and ultrasound and see.
If you are concerned you can do an amino or cvs. I have had an amino and it wasn't an easy decision as there is a risk of miscarriage. I was told at the. Place we did it risk was 1 in 400 but I had to wait until over 16 weeks and full results took 2 weeks. So all up it was 18 weeks before we could relax.
Not something I'd go through if the screen came out with good results.

#22 my4beautifulboys

Posted 07 February 2013 - 09:00 AM

Rolex; thankyou for youre kind words and best wishes, i was quite surprised to fall pregnant again so soon after my m/c, i really hope all goes well this time and we can add one more little one, #4 to our family. Oh thats wonderful news, im so happy that youre pregnant with #4 as well, i hope that you have a trouble free pregnancy and are able to enjoy it. When are you due? my due date will be early October.

Natttmumm Thankyoufor sharing, yes i think that my chances will be higher being older, i chose not to have the Nt scan and blood test with my other 3, i was 37 when DS #3 was born, so i havnt really got anything to compare with. I can imagine that it must of been very stressful choosing whether to have further testing or  not, i m glad to hear that you had good results. I imagine my Gp will arrange for me to have the Nt scan done and hopefully i wont need further testing, i dont think it would like to have that done. Best wishes


Edited by my3beautifulboys, 07 February 2013 - 09:01 AM.

#23 Rolex

Posted 07 February 2013 - 01:41 PM

Thanks OP.  I'm due 1st July - almost half way now!

Again, best of luck, I will keep everything crossed for you.  First trimester after loss is always anxious, but take it easy as much as you can!

#24 my4beautifulboys

Posted 07 February 2013 - 03:39 PM

Hi Rolex, thats wonderful news, i hope that you enjoy the last few months and all goes well.

Thankyou, i will try. Its always really hard getting throught the first few weeks, i'm feeling alot better this time with a few symptoms i didnt have before, so hopefully thats a good sign.

#25 envs

Posted 07 February 2013 - 03:47 PM

It's a blood test performed from 12 weeks. The sample is sent to Singapore/other Asian country, is supposed to be 99% accurate, from a run of over 70,000 results.

It costs about $1,300. It is supposed to be a fair bit more accurate than CVS or amnio. As it is non-invasive it reduces the risk of ruptured membranes, can detect other genetic abnormalities, and results take about 14 days

The website is igenescreen.com

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