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1:2 risk of Downs Syndrome

(22 Posts)
Bertina100 Mon 28-Jul-14 12:20:29

Hi I am 38, I had the bloods test and NT test which measured 3mm, my Blood results are Free beta HCG: 3.512 MoM and the PAPPA-A is 0.3105 MoM so they have given me the 1:2 odds that the baby has Trisomy 21, Downs Syndrome. This is my first baby and in the last year I had 4 miscarriages, I had all the tests done and there was no reason found for any of them. I am absolutely devastated and this morning had the Harmony test so now have to wait 2 weeks for the results. Has anyone else had odds similar to mine, and had a positive result from the Harmony test. I am worried sick but can't help thinking that the result will be that the baby has Downs Syndrome. I am 13 weeks and 3 days pregnant. I would appreciate any response from someone who has gone through the same experience of 1 in 2 odds.

BlondieBrownie Mon 28-Jul-14 12:33:50

I'm sorry you're going through a tough time, I don't have any experience but I've found a previous thread which may answer some of your questions?


I hope everything works out okay for you thanks

BlondieBrownie Mon 28-Jul-14 12:34:35

Another here

Bertina100 Mon 28-Jul-14 12:42:56

Thanks for sending me that link, I have read it already, I have done nothing but google since last Friday any information, i just feel really despairing and negative and that there is little hope. Sorry to be so pessimistic I just feel terribly alone.

BlondieBrownie Mon 28-Jul-14 13:16:06

Don't apologise, it's normal to feel how you're feeling.

Have you got support in RL? People who will hold your hand through the next couple of weeks?

Isabella24 Mon 28-Jul-14 14:30:49

I've not been through this but have a friend who has- last year. She had a 1 in 2 risk from the combined test, then had the Harmony test which was negative for Down's syndrome. It was a very difficult time.

I hope you get a similarly reassuring result. Have you spoken to ARC? They are brilliant apparently.

Thinking of you x

Isabella24 Mon 28-Jul-14 14:32:35

When I say negative from the Harmony, I think it was 1 in 10,000 - iirc

Middleagedmotheroftwo Mon 28-Jul-14 14:33:42

Downs Syndrome isn't the end of the world you know. Have you been given adequate information about the condition, and the chance to meet children and their parents, or adults with the syndrome so you can see for yourself that most have a good life?

September60b Mon 28-Jul-14 15:53:26

Hi op. I had a 1:4 risk and opted for a CVS even though I had suffered previous mc's. Initial results were fine but I really couldn't rest until I had the full results back. Luckily for me my results were good and I have a healthy baby (so far) but the 2 week wait was really difficult.

I can't tell you to try not to worry over the next 2 weeks because I know it is impossible. Just try and remember that that 1:2 is just a number and there is a 50% chance that your baby is absolutely fine. I really hope that you get good news. Try and look after yourself and baby as best you can over the next couple of weeks xx

OneLittleToddleTerror Mon 28-Jul-14 16:30:58

I think harmony always use 1 in 10,000 for negative results. They can't claim 100% accuracy. Maybe they could would more research.

Praying you would be the 50% with the good news.

GingerRodgers Mon 28-Jul-14 17:20:14

Middleaged, no ones mentioned it being the end of the world but it can be a devastatingly shocking diagnosis for some and pretty life changing.

Op, hand hold if you need it. thanks Thinking of you.

Bertina100 Mon 28-Jul-14 22:56:53

Thank you for all the messages, I am just trying to get my head around it as it is all very new and I was just delighted that this baby stayed, I wasn't thinking about anything except getting past the 12 week mark so it is a bit of a shock. My Husband had to leave today for a conference for 10 days so really appreciate your support and messages and any advice you can give as I do feel out to sea and very anxious.

Bertina100 Mon 28-Jul-14 23:00:23

I am so glad September6OB that it worked out for you and thank you for your kind message, I do hope that I am that 1 in 2 but am trying to prepare myself that I may not be. I have not really slept for 3 nights and spent so much time trying to get info. I think it will take a while for all the possibilities to sink in and I am no where near getting my head around it. XX

madamweasel Tue 29-Jul-14 08:36:13

I didn't have 1 in 2 but I did need a CVS which came back negative. I wouldn't expect you to be able to get your head around it now...wait for the results. I know that the waiting is utterly horrible and incredibly stressful but take each day at a time, read about things, think about things if you need to, but ultimately, you'll not really know how you'll feel until you have your results and going through trying to make decisions on hypothetical situations is IMO not a true reflection of how you'll feel once you know.

Take care of yourself in the mean time and try to get some rest, even if sleep won't come easily.

I asked the consultant that if the baby is fine, why did the high risk results come up? And she said that sometimes you can have a genetically normal baby but abnormal results on the bloods, etc, that's why they send you for further tests, because the first round can be inaccurate.

Good luck with the waiting

Bertina100 Tue 29-Jul-14 10:50:50

Thanks Madame Weasel, I have work so that is good to take my mind off things, I just feel like I am in a dream, I went to a private clinic for a second NT scan on Saturday and she wrote my blood results incorrectly which I did not realise until Sunday morning so she had changed the odds to 1 in 50 which was an amazing difference. I felt so sick when on Sunday I realised that the odds were back to 1 in 2 and yesterday they too dmd to prepare for the worst that there is only a very small chance that the results will come back with a No Downs Result. I appreciate your comments and advice X

misssmapp Tue 29-Jul-14 10:58:56

We had a 1 in 4 risk with ds2. We decided we would have the baby whatever the results ( unless a condition that caused pain and suffering to the baby) so instead of googling the negative things, I looked at the down syndrome website and focused on stories of happy children/adults and groups in our area that could add support, I found this really helped.

The results came back negative for downs, but ds2 does have other conditions/syndromes. He is still a happy, funny, loud, lovely boy who is ours.

the wait is horrible, but google good things too.

Bertina100 Tue 29-Jul-14 11:52:15

Thanks Misssmap, yes that is good advice and congrats on your little boy. I will look at positive things too, I am still just a bit in shock and trying to take it all in. it is 4 days now since I got the news and it is just taking a while, the wait is terrible, I had anxiety dreams last night and woke up feeling choked in tears. Thanks again for your advice X

Bertina100 Wed 30-Jul-14 23:06:17

Hi Isabella 24, thank you for your message, I was wondering if you might be able to tell me more about your friend or if she had similar results in her bloods and NT. I had a really bad day today, I burst into tears at the start of the Pregnancy yoga class and stayed late at work to try to take my mind off it but ended up crying every time I went to the bathroom or the kitchen. I really feel so not in control, like I am just sleepwalking through the last 6 days and I have 11 days to go until I get the results. Thanks again for all the supportive messages, I am feeling quite alone.

mineofuselessinformation Wed 30-Jul-14 23:14:35

Just remember that 1:2 means a fifty/fifty chance of things being ok too.
I'm sure it's a horrible time for you (I had a dc who when born was suspected of having Down's so I too had a two week wait).
All is not lost yet. When the time comes, you will know what is to come.
Good luck, and hoping for a good result for you.

Bertina100 Wed 30-Jul-14 23:27:12

Hi Mineoduselessinfo! Thanks, the wait to awful, I keep thinking that I must have been given this situation for a reason and trying to see what good it is, but I think I am so overtired and confused and really wish my Husband was here to help me through it. X

Isabella24 Thu 31-Jul-14 00:03:08

Hi Bertina. I don't know the results of my friend's combined test, but as well as the high-risk from the blood/ nuchal measurement, the baby's nasal bone was also absent, which is a soft marker I think? I don't think many hospitals check this, but hers did. So she was very pessimistic about the Harmony test - and yet everything was fine.

I really feel for you, especially with your DH away. Everyone says the waiting is the worst part. Is there anyone you can talk to or do you prefer not to? thanks

Bertina100 Thu 31-Jul-14 05:47:05

Hi Isabella, I have talked to 3 friends and they are great but there is only so much a person can say. I am going over and back in my head and thinking what ifs constantly. I am trying to find a therapist to talk to before the results and for after. The second opinion doctor did see a nasal bone but the consultant was quite dismissive of this when I told her, I am holding on to this though xx

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