Testing for Downs syndrome
, Feb 06 2013 06:59 PM
25 replies to this topic
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.
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.
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).
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. http://www.betterhealth.vic.gov.au/bhcv2/b...serum_screening
The link above should give you a bit more info.
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
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.
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.
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
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.
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!
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.
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
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.
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.
Posted 06 February 2013 - 07:49 PM
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.
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.
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.http://www.essentialbaby.com.au/forums/ind...owtopic=1047173
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.
Posted 06 February 2013 - 10:50 PM
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.
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!
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.
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.
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!
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.
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
1 user(s) are reading this topic
0 members, 1 guests, 0 anonymous users
The Essential Baby & Toddler Show is back this April! Save $8 off the door price for a limited time only!
Sometimes the greatest baby name ideas come from the most unexpected places, as these EB members show.
While we often think of pregnancy as a 40 week affair, experts agree that 37 weeks is actually “full term". So is there an argument for inducing all births at 37 weeks?
Controlled-crying techniques may help some babies sleep through the night, but for many exhausted new parents, it's just a recipe for more tears all round.
As people become more aware of these benefits, I hope more parents will practice this method, so we can cut down on nappies and improve baby bonding.
Aussie actress Emily Symons has announced she is pregnant with her first baby.
A little girl will grow up without her father after the fit and healthy 34-year-old passed away while doing something he had practised his whole life.
You could be doing yourself a disservice by encouraging your toddler to have an afternoon nap, according to new research.
We've compiled a guide to some of the most popular presents for newborns and new mums, and for christenings and naming days.
Actress Jaime King is pregnant with her second child, giving 16-month-old James a sibling.
The Abbott government should extend funding to nannies, and direct childcare payments to low and middle income families, a landmark study on childcare has found.
As many as one in two newborn babies suffer from skin irritations in their first few weeks. So what are the most common rashes and irritations to look out for?
Wall decals are the answer to creating a beautiful nursery or children's space without lifting a paint brush, a spirit level or even a hammer.
Three-year-old Cain Trainor headed off home after his first day at a new preschool without telling anyone.
In spite of being in an almost constant state of motion while looking after the kids and trying to keep things together at home, it can seem as though parents have managed to get nothing on the to-do list done by the end of the day.
The middle name is no longer an afterthought, and parents' inspiration comes from many places.
A new IVF scheme offers couples the chance to fall pregnant and give birth - or get their money back. But there's more to it than you might think.
A baby born still inside the amniotic sac gave US doctors a rare glimpse at life inside the womb.
Three years ago Jason Hughes viciously attacked his ex-partner. Now she has to write to him three times a year.
A West Australian woman will fight allegations that she scammed expectant mums by selling them fake ultrasound pictures of babies.
Got bored kids? Quickly find the best activities for kids wherever you are in Australia with the Essential Kids app.
A Sydney mother who suffered brain damage when she was hit by a car while pushing her newborn baby in a pram has reached a confidential out-of-court settlement with the driver's insurance company.
A culturally sensitive midwifery service has gained the trust and respect of Aboriginal women.
Most mums-to-be plan to take things easy and perhaps have a little break from work as the birth of their baby draws near. Not Kate McCartney.
Announcing that you're expecting can be a time to express your creativity, sense of humour and imagination. Check out how other parents and parents-to-be have broken the news to friends and family.
Last week an un-retouched photo of model Cindy Crawford surfaced, showing the 48-year-old mother-of -two posing in underwear.
Thought your toddler could not love pancakes any more than they already do? How about if the breakfast treat came in the shape of every two-year-old's favourite cartoon character?
I thought I was never going to be able to have a successful pregnancy. I decided that I wasn't going to form an emotional attachment with this baby.
February 18 marks the start of one of the most prolific annual baby competitions in Australia: the Bonds Baby Search. And this year is going to be more special than ever.
This is not something that people like to talk about, but Facebook has announced that it will grant users more control over what happens to their pages after they die.
Mother of four Marie Holmes was financially struggling after quitting her jobs at Walmart and McDonald's in order to care for her children.
A first-time mother whose daughter died hours after her frightening birth insists she was never told of the risks of being obese and pregnant.
She has labelled parents who do not vaccinate their children "misinformed imbeciles" - and for that, she makes no apologies.
Are you one of those that know the whole IKEA catalogue by heart? Love their stuff but want to personalise it? Here's some inspiration to help you realise the potential of IKEA furniture and fittings.
I never thought I’d say this, but for a brief moment last week, Kim Kardashian and I had something in common: both our kids had public tantrums.
Polycystic ovary syndrome (PCOS) is the most common female hormonal condition, affecting roughly one in 12 Australian women.
If doing it on your back is out, what's the best position for labour and birth?
With Valentine's Day coming up, Nat Gilbert could be forgiven for thinking her husband might be planning a surprise for her.
We usually only hear the success stories: tales of the two-year-old who’s talking, running and completely toilet trained. But other stories need to be told too.
Sarah Kiss has a word of advice for proud mums and dads who are keen to enter their babies in this year's Bonds Baby Search Competition - just have fun.
If your family needs to go to sleep school, go with them. You are part of that family and you are part of the solution.
A French court may have ruled out Nutella as a baby name, but that doesn't have to stop you from taking inspiration from the supermarket (or bottle shop). See what parents in the US have chosen for their delicious little ones.
Check out this range of products designed to help make your breastfeeding journey more enjoyable, manageable and convenient.
Win a KitchenAid Mixer
To celebrate, and to thank our amazing fans, we?re giving away a KitchenAid Artisan Tilt-Head Stand Mixer.