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Greater than 9 in 10 risk of Down's Syndrome

(34 Posts)
DesperatelySeekingHope Tue 22-Sep-15 20:40:03

Long time lurker posting for the first time for some insight and support following a meeting with a midwife yesterday. I was called into hospital yesterday to discuss my blood test results so I knew instantly that something must be wrong...

I've been told that following my 12 week scan and blood test that my results were sent for a reflex DNA test. The results of which indicate a greater than 9 in 10 risk of Down's Syndrome. I've searched online and not found any odds that high. I see people post ratios like 1:150 or 1:3 but nothing like 'greater than 9 in 10'. I keep telling myself it's a screening not an actual test but it's hard to have much hope that the outcome will be anything other than confirmation that I'm carrying a baby with Down's Syndrome.

I'm having an amnio test next week so will know either way in 10 days but I suppose I'm trying to get a better perspective of what the odds really are and how I'm going to be able to get through the next week or so.

Any experience or understanding would be much appreciated.

EldonAve Tue 22-Sep-15 21:07:18

The reflex DNA test is new
Most people posting odds will be looking at the nuchal/bloods combined screen result hence the ratio results

Have you considered talking to arc? www.arc-uk.org/

How many weeks are you now?
Good luck with the amnio. The waiting is awful but you will get through it

DesperatelySeekingHope Tue 22-Sep-15 21:50:57

Thanks for posting Eldon.

Nuchal measurement is 2.8mm
HCG level 80.9
Papp 2531

Not sure if that is useful info...

I'm going to speak to arc tomorrow.

I'm 14 weeks 4 days so am waiting till Monday for amnio (will be 15+3).

DesperatelySeekingHope Tue 22-Sep-15 22:01:48

I think I should have posted MoM results.
Nuchal: 1.63 MoM
Hcg: 2.54 MoM
Papp-a: 0.74 MoM

EldonAve Tue 22-Sep-15 22:30:23

The Wolfson has graphs showing the distribution curves according to the blood test results etc. You might find it helpful or not

www.wolfson.qmul.ac.uk/images/pdfs/LUS%20Integrated%20HP.pdf

Any reason why you were not offered a CVS?

DesperatelySeekingHope Wed 23-Sep-15 09:15:40

Thanks for that.

Apparently I missed the window for CVS as I'm over 14 weeks so now I just have to wait for the amnio.

I'm driving myself mad wondering about the outcome.

offbeatgirl Wed 23-Sep-15 16:16:38

OP, I'm so sorry that you've received this news, and now have to wait it out until you're able to take the amnio test. You may already have made up your mind what you will do if the amnio confirms that your baby has Down's syndrome, but if you're not sure it might make more sense to weigh this up while you're forced to wait for confirmation one way or another: you can't affect the outcome of the test, but you can choose what you will do if the baby does have Down's syndrome. I had a tfmr for a different condition: it wasn't an easy decision for me and in hindsight I am relieved that I spent a lot of time beforehand considering both options, because ultimately it enabled me to make a decision that I was confident in and can live with. Arc is a brilliant starting point. Does your hospital have any support services? I made use of my hospital's clinical psychology team and found them really helpful - something like that might help you get through the wait until you get your results.

flowers

blacktreaclecat Wed 23-Sep-15 16:22:56

We got odds like that but the nuchal was 11mm so it was obvious the baby was poorly. It was t21 and we did tfmr
I'm sorry. I also recommend ARC.

Slowcoach40 Wed 23-Sep-15 19:51:45

Hi DesperatelySeekingHope. I'm so sorry you're going through this. Its the anxiety and what ifs that drive you nuts whilst you wait.

I confirm the great advice from the ladies about contacting ARC. My odds were 1:75 and today my amnio confirmed downs.... my friend had odds of 1:12 and hers came back as fine. The odds thing reallly isn't that helpful! I contacted ARC today and they are brilliant...they can't tell you your outcome (which is the thing we all are desperate to know) but they can help you manage some of your anxiety and have a really informed place to turn.

I have everything crossed for you. I hear more good news stories than I do bad when it comes to the results of the amnio and I hope with all my heart you're one of the good news stories. I did a Harmony test before the Amnio and that is a lot more reliable than the NHS one.

DesperatelySeekingHope Wed 23-Sep-15 21:39:37

I spoke to ARC today. They are wonderful, kind and sympathetic. The woman I spoke to advised me that the DNA test is incredibly accurate and there's very little chance (highly unlikely) that the baby doesn't have Down's Syndrome. In a way I'm relieved by her honesty and wish the midwife had been so transparent.

I'll have the amnio to confirm everything and can now research our options. DH is supportive and will do anything to help me through this. Thank you for your time and comments and insight - it means a lot.

horsewalksintoabar Wed 23-Sep-15 21:46:44

ARC was marvellous! We had two consecutive Downs pregnancies... what are the odds!
Just wanted to wave the ARC flag. I'd have been lost without them and the forum.
Once you have the amnio, you will be dealing with a consultant who will guide you further should the results come back positive for DS. Please inbox me if you need support or have questions. I don't say much on forums (I take it to the ARC forum if I need to) because I made a decision, twice, which is upsetting for some people. I understand that. But if you'd like a chat, I'm here. flowers

DesperatelySeekingHope Wed 23-Sep-15 22:15:49

Oh Horse - that is ridiculously unfair!

ARC are great aren't they!? I cried but also felt good being spoken to so kindly but truthfully.

Thank you for your insight. I may well take you up on the offer of some private messaging. Will wait until next week when everything is confirmed...

KittyandTeal Thu 24-Sep-15 20:39:49

I think the free dna tests (like harmony) etc are not licensed to be diagnostic but in many cases th risks are pretty much a positive or negative. (As in 1:10000 is negative)

I would all say arc are amazing and yes, my initial though when reading that risk was it will be a positive screen for T21. Like pp have said, spend this time researching Down's syndrome so you have a good idea of what you are facing when you get your results.

I have also had a tfmr (for T18) and I'm more than happy to talk about that process if that is your choice. The best thing I was told was to make sure the decision you make the right one for you. Each decision needs to be right for each couple or family.

I'm sorry you've had such tough news

WipsGlitter Sat 26-Sep-15 23:13:57

I have a child with Down's syndrome please pm me if you'd like more info. He's an amazing boy, so loved and brings such joy to everyone who he meets. It's really not as bad as people make out.

DesperatelySeekingHope Sun 27-Sep-15 16:06:03

Thanks Kitty. I've been reading lots of the threads in this section and have gleaned lots more info.

Wips I appreciate your offer. Down's Syndrome doesn't fill me with fear in and of itself. I am however aware of other health implications and am hoping the scan and amnio will help clarify what issues there may be.

I am scared about tomorrow and the week ahead but I know we'll get through it and I'm actually keen to find out more having been stuck in limbo since Monday. So many emotions!

SaggyAndLucy Tue 27-Oct-15 02:16:25

Hi OP, im a bit late to this, (been on a mn break) but i hope youre ok.
Like the lovely Wips i too have a child with Downs sand am happy to chat if youd like to.
Id like to suggest, to you and anyone in the future reading this, to speak to other parents, check out Downs forums, and have a look at the facebook group 'Future of Downs'. The general info available about ds is quite factual and rather repetitive, youget clinical facts, but not a real picture. Theres so much more to Downs than developmental delays and almond eyes, and other parents are a great source of knowledge.
Anyway, take care and all the best. Pm if you want to. X

Dragonflyola Mon 14-Dec-15 12:16:16

Message deleted by MNHQ. Here's a link to our Talk Guidelines.

VegasIsBest Mon 14-Dec-15 12:31:50

DesperatelySeekingHope - wishing you all the best in dealing with this.

Dragonflyola - I have reported your post, which is very insensitive on this thread.

UnderTheF1oorboards Thu 21-Jan-16 22:00:46

Hi OP, hope all is well with you. I also have a DS with Downs who is a very bright and healthy little boy. Do PM me if you like. The authoritative source of all Downs-related health info is www.dsmig.org.uk/.

BanguraAmy Sun 11-Dec-16 19:12:39

Hi DesperatelySeekingHope. I need your help please, what was your result am going through the same thing right now my results said screen positive greater than 9 in 10 for Down syndrome. Have already done the amino still waiting for the outcome.
Thank you.

beansbananas Mon 12-Dec-16 05:06:30

Hi BanguraAmy,

I'm so sorry to hear you are going through this. I didn't want to leave you thinking you're on your own while you are waiting for a reply. I also went through this and my risks went from 1:47 to 1:5 to 1:2 to 100% after all the screenings. It's a very confusing and frightening time. How are you feeling?

BanguraAmy Mon 12-Dec-16 12:39:26

Thank you for replying beansbanans, to be honest am not happy feel like an life is coming to at end. What screen test did you do? I did DNA reflex screening. Scan was normal no abnormal was seen.
Nuchal measurement 0.91 MoM
FreeB HCG level. 2.57 MoM
PAPP A level. 0.35 MoM

Don't really understand what they might by
Screen positive
Increased rise of Down syndrome
Greater than 9 in10
I will appreciate if anyone can give me ideas.

Thanks

SarahOoo Tue 13-Dec-16 08:43:10

Hi BenguraAmy, we had a higher risk of a Down's Syndrome, Edwards & Pataus. The blood results plus our NT were the reasons, I was informed that the bloods should be around the 1 mark, mine were around half that, we chose the CVS for a diagnostic rather than a screening. Our results were normal and our 20 week scan a couple of weeks ago was also normal, we had an extra heart scan too.

My guess is that the increased risk (and its only a risk not a diagnostic at this stage) is your HCG free is higher than 1 and they have drawn the risk from there. When will you get the results of the amnio? The amnio is a diagnostic which will give you a definate result.

Thinking of you, going through this limbo was one of the hardest times.

BanguraAmy Tue 13-Dec-16 09:11:43

Thank you so much sarahOoo. Maybe my amnio results will come out today in Jesus name with a nagative result or tomorrow. What was your risk ratio and when did you do the CVS test?

Thank you.

SarahOoo Tue 13-Dec-16 09:32:36

Our risk was 1:85 for Down's Syndrome and 1:78 for Edwards & Patau's. We had our 12 weeks scan and the CVS the next day (amnio is later on I believe). How many weeks are you?

I hope it comes back today for you, ours came back on a Friday afternoon after the CVS on a Wednesday morning.

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