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High Risk for Trisomy 21 - waiting for Harmony Test

(12 Posts)
Hopeful17 Tue 14-Mar-17 19:48:22

Hi, I had my 12 week scan last Monday. The scan itself was all good, but my blood tests (and my age 37) seem to have put me in the 'high risk' category at 1:76 chance of Trisomy 21. I am petrified and driving myself mad waiting for the results of the NIPT test which take 2 weeks (I chose to go with the harmony blood test as I didn't want the miscarriage risk of a CVS, even though I know it's <1%).

My results were:
NT = 1.8mm (good)
PAPP-A = 0.7 MoM (a bit low as median is 1)
Free Beta HCG = 3.38 MoM (very High!! Again the median is 1)
Nasal bone was present (good)

I was wondering if anyone else has Had similar results and what their outcomes were?

spellbound2014 Tue 14-Mar-17 19:54:17

Hope you're doing ok while waiting for the results. I know how difficult it can be. I had amniocentesis at 32 weeks in November 2015 so I know how hard the waiting is. Sending hugs and hope you get the results you want xx

needtobeanonforabit Tue 14-Mar-17 20:02:44

I can completely sympathise - I had exactly the same last week (and with faaaar worse numbers! Harmony showed all ok, hope it is for you too x

My thread on it in case it helps, lots of people shared their positive stories which I found of real comfort. Hope it helps you too:
www.mumsnet.com/Talk/pregnancy/2865527-Did-your-high-risk-result-for-Downs-syndrome-result-in-a-baby-with-DS?

HN42 Tue 14-Mar-17 20:31:14

My risk was 1 in 85 for one of my twins - I don't think my bloods were particularly reliable due to twins so its difficult to give accurate results but it was an NT measurement of 3mm in twin B that swung it into the high risk side of the odds. Nasal bone looked really strong on the photo though and I kept looking at the picture throughout the wait for harmony results and towards the end I had convinced myself because of the strong nasal bone all would be ok. And it was, harmony results came back 1 in 10000 for all 3 trisomies.

Good luck, I know how agonising this wait for results is, it drove me crazy too, but try your best to take your mind off it as much as you can, friends and family got me out the house to socialise even if I didn't feel like it but the distraction did me a world of good.

Hopeful17 Wed 15-Mar-17 08:03:55

Thank you so much for your responses, I am trying to focus on the fact that there were no markers on the scan, and I had it done at King's College so they are very thorough. But the sonographer did say that Downs babies can look normal on the scan.

I have found that the Dr's seem to scare you more than reassure you, I know they have to tell you the facts in order to make an informed decision, but mine seemed to want to rush me into CVS rather than Harmony and then was talking about wait times and how many weeks pregnant I would then be if I wanted to terminate etc... the tone was definitely rushed and on the side of assuming I would terminate. It was all just such a lot to take in and I wasn't ready for that conversation. My DH who is usually very rational also came out of there feeling like it was pretty much a given that we have a baby with DS, and I feel that is mainly due to the way the results were communicated.

Thank you needtobeanonforabit for the link to your thread, there are a lot of similar stories on it with positive outcomes which is really good to read! It gives me some hope that there are other ladies with wacky bloods whose babies were fine! smile xx

SarahOoo Wed 15-Mar-17 08:26:40

I'm sorry to read you are going through this, we went through the same thing in October at Kings and was rushed into the CVS and the results were negative. They mentioned Harmony but at the time I didn't take in that it was the NIPT. Our risk was 1:85 for T21. Our test results from the CVS came back clear and subsequent scans (plus an extra heart scan) have all been fine.

I cannot really give you any helpful advice other than look after each other and try to keep level headed. If you have an questions please do ask me.

Metalhead Wed 15-Mar-17 15:32:28

Try to stay positive OP, the words "high risk" just send most people into a panic but if you look at it in terms of % you still have a very high chance of a healthy baby!

I was given a 1:85 risk of Downs for DD2, based also on dodgy bloods (my HCG was 14 mom!!!), and everything turned out fine. I think the bloods on their own are very unreliable, all sorts of things can cause them to be off. I'd take the nuchal scan and nasal bone as good signs. Hope you get your Harmony results quickly and it's low risk.

Hopeful17 Wed 15-Mar-17 19:21:47

Thanks for your message Metal head. Wow 14 MoM is extremely high! I have never heard of that!!! And great news that all was fine in the end, did the Dr's ever give you any explanation as to why? I'm clinging to a theory that there is still so much they don't know about pregnancy/the placenta and that high HCG can be just a natural variation.

Metalhead Thu 16-Mar-17 07:57:27

No they didn't, one consultant just said they sometimes see women whose bloods are really weird with no apparent reason, I guess I was one of them!

dippypanda Thu 16-Mar-17 08:41:40

Hope you hear back soon. I've just had my scan on Tuesday this week and had bloods taken so waiting to hear what risk I am, I'm 38, nearly 39, my nt was 1.2mm which I believe was good etc, but hadn't realised the bloods could affect it as much etc. So just waiting to hear back. Did yhey offer you the NIPT test or did you go private?

Hopeful17 Thu 16-Mar-17 14:04:56

Hi Everyone, I wanted to let you all know that I got mu Harmony results today and they were low risk (1:10,000) for all three trisomies. I am so happy and relieved and so is my OH!!! I feel that I can relax and enjoy my pregnancy now and tell everyone about it smilegrin.

Dippy panda, I went to the Harris Birthright Centre at King's College London. As I live in South London I had the option and they are also undertake fetal research so they offer the Harmony test on the NHS for high risk screens. Otherwise I think the only option is to pay for it privately (the Fetal Medicine Centre seems to come highly recommended by many on these boards - it is run by the same professor that runs the Harris Birthright Centre).

I hope you get the results that you want, the 1.2 NT is a very good sign x

Metalhead Thu 16-Mar-17 17:50:09

Brilliant news hope, so pleased for you! smile

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