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Antenatal tests

Scared and confused after combined test results

17 replies

RTchoke · 08/11/2012 06:41

A week ago we had our nuchal scan. The measurement was 3.2mm. Not terrible but not great. We awaited the blood results which we hoped wkd improve the overall outlook.

I also had a brand new non invasive test called Harmony. I posted a separate thread about it. I had it St the Fetal Medicine Centre on Harley St. It looks for bab'y DNA in maternal blood and studies show it's a v accurate predictor for 3 main trisomys. It is however v new so hard to assess how much evidence there is for it. I got results of 1 in 10000. I was so relieved. Worry about nuchal dropped away.

Yesterday I got my blood results from the combined nuchal. Bloods were terrible. They said I have a 1 in 10 risk of Downs. The NHS screening advisor had heard of the Harmony test but could not advise me on how much comfort I should take from it or which test was more reliable.

I have been up all night crying. I am terrified and confused. In five hours I go back to the Fetal Medicine Centre for a more detailed scan and further info on the two tests. I fear Harmony suggests it's not Downs but maybe the combined test is indicative of something rarer and more serious.

I know I only have five hours to wait for more info but having been up all night I have got myself in such a state. I'm not even sure why I'm posting this. I can't even talk to DH so if you have read this far thanks.

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Flyingfruit · 08/11/2012 07:17

Just wanted to let you know I read, afraid I have no advice as I don't know much about the tests. Try not to worry until you have more information.

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RTchoke · 08/11/2012 08:31

Thanks Flying Fruit. I'm a tiny bit calmer now. Only 2.5 hours to go.

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Hormonalhell · 08/11/2012 08:36

Bless you RTchoke I am pregnant and nearly 41, I too was worried and I feel your pain. I hope the tests and scan go well and have my fingers and toes crossed for you.

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katiecubs · 08/11/2012 11:11

Hi RT - i'm sorry i don't know much about the new Harmony test but i just wanted to wish you the best of luck today. The FMC from what i have heard is brilliant and i am sure they will be able to give you the answers you need today. Will be keeping my fingers crossed for you x

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lotsofcheese · 08/11/2012 21:01

RTchoke I'm sorry you've had a sleepless night & are worries; I hope you got some answers about your results today.

I don't know much about the Harmony test, but what I would say is that the NHS combined test is only a screening test, NOT diagnostic, with an estimated risk. I'm guessing that if the Harmony test analyses foetal DNA then that's actually diagnostic.

I hope that helps & that everything works out for you x

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Daphne78 · 08/11/2012 22:16

RTchoke, sorry to read you are going through this. I sincerely hope you had some positive news at FMC today.

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newbie6 · 08/11/2012 23:25

Hope everything went okay today for you. Thinking of you x

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RTchoke · 09/11/2012 06:40

Thanks all,

The FMC was extremely reassuring. They re-did the combined test and could bot replicate the NGS finding if a though nuchsl fold. They measured it over 20 times and it was never more than 2.4mm. They looked for many soft markers and found none at all. They re did my bloods and said Papp-A and HCG in healthy ranges. They gave me a revised risk score from the combined test of 1 in 6200 for Down Syndrome (remember the NHS said 1 in 10!) and 1 in 12000 for Trisomy 13&18.

They explained the Harmony Test isn't diagnostic but also a screening tool. However all trials suggest it's more reliable as a screening tool than the nuchal. It was a much lower false positive rate. given my Harmony risk was 1 in 10000 they said I should take great comfort from that.

Overall they said they saw no indication at all for a CVS or amnio and speculated that the NHS monographer may have measured the nuchal wrongly because if the baby is lying across the bottom of the gestational sack it is possible to mistake the edge of the gestational sack for the edge of the nuchal membrane.

I feel very reassured even though the NHS screening midwife later questioned the validity of some of the FMC methods. As far as I can see the FMC is world renowned so I'm going to trust it

The last couple of days have scared me to my core but I just hope I can forget about them now and trust in the health of this baby.

Thanks again.

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RTchoke · 09/11/2012 06:42

Sorry for typos. Second sentence should say "could not replicate the NHS findings"

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booboomonster · 09/11/2012 06:58

Hi RT I've been looking at your posts with interest (I'm mainly a lurker on the May thread too) and really glad you got reassurance. As someone else said here, these tests are only risk assessments anyway, but your experience seems to show how varied from day to day they can be! I got much higher results than I have ever before (though still just in low risk, and due to hcg levels) so I'm keeping an eye on these posts! Loads of luck & hope to see you on the May thread soon!

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DoodleAlley · 09/11/2012 08:33

RT glad to hear about you feeling calmer. It's a tough old ride sometimes being pregnant isn't it?!

It might be worry printing out a copy of your post about all the reasuring words you were given, so you can read them to help you.

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katiecubs · 09/11/2012 13:06

Great news RT! make you question the nhs though doens't it! I mean if it was a little bit out fair enough but in your case they were poles apart and may have mean you went for a risky diagnostic test when it was not needed!

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VioletElizabethBott · 25/11/2012 16:29

Dear RTchoke - I just posted on your other thread having not seen this one. I'm SO sorry you had this nightmare to deal with. And so pleased the FMC sorted it out for you.

If it is of any relevance, last time I was pregnant (healthy baby girl, now 3) I had the FMC scan at 12 weeks and though "well, I'll have the NHS one too - better to have two sets of eyes on this baby than one right?". The NHS results came back much worse than the FMC ones (which were 1 in 9300 I think) and had they been the only ones to go on I'd have been less easy in myself. Though saying that it wasn't the poles apart you experienced.

But comparing the two tests I remember the NHS one taking about half the time of the FMC and the machine being a lot simpler. To my mind there was no comparison in quality.

My current NHS midwife, off the record, encouraged me to just do the FMC - she said they are the top in the country. The FMC scanner who saw me at 10 weeks (for the Harmony test - see your other thread) also confirmed that some NHS machines are less state of the art than the ones they have at the FMC. I'm not saying this is the case for all NHS scanning facilities but certainly for my countryside hospital it seemed so. I'm not bothering with the NHS test this time, just the FMC.

I think the Harmony test is an incredibly exciting prospect and hope it proves worthy of being rolled out nationwide on the NHS. Being done at only 10 weeks it provides the earliest and seemingly most accurate screening news of any potential genetic problems.

Best of luck with the rest of your pregnancy.

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countrymumkin1 · 26/11/2012 18:16

Hello all.

I am new to mumsnet and talk boards in general so please bear with me.

The reason I joined was because I have very worrying combined screening results (1 in 33) with 2.1mm nuchal (seen as pretty normal), normal PAPP-A but extremely high HCG (4.4 times average). At age 40 and after a hell of a journey getting pregnant (2 failed IVFs, 4 failed clomid cycles), I had success with a combination of Chinese Medicine, acupuncture and a diet to support my Chinese Medicine diagnosis. We really didn't want invasive testing and my husband found out about Harmony test online after much desperate searching.

The Harmony test is non-invasive, is just a simple blood test and the reliability is extremely high (you wouldn't need to worry at all about reliability). We had the Harmony test and scan 2 weeks ago and I am pleased to say that all went well and the results were fine. This post is just to really say 2 things.

  1. If you don't want the invasive tests, call up the Fetal Medicine Centre for a Harmony test (you won't find it advertised on their website as it has only been available for 4 weeks or so). It's only available privately and costs £400 + £150 for scan (you have to have a scan on same day). They are the best in the country and Professor Nicolaides who runs FMC is one of the top Fetal Consultants in the world.


  1. We found the waiting for the tests results extremely traumatic. It takes 2 weeks and we went to hell and back. I shouldn't think we'll ever be the same again! I know everyone says stay off the internet, but it's very hard to. You're looking for 'someone like me' who's come off ok or for some nugget of insight in a medical report. One great thing we did find whilst googling was the www.arc-uk.org They are Antenatal Results and Choices and offer really good unbiased counselling over the phone- I really found it helped. They don't favour any way of thinking, so are ideal if you want someone to talk to.


Hope some of this helps someone that comes onto this board or is on the board already.

Best wishes to you all.
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VioletElizabethBott · 27/11/2012 17:30

Dear Countrymumkin1 -
Would you be able to post your really helpful comments on RTChoke's other thread which is very specifically about Harmony testing? I think quite a few women will land on that one too and would find your experience valuable.

I had my Harmony testing done at the FMC too - nuchal fold and combined test on Thursday this week (fingers crossed). It took only 1 week for the FMC to get my my Harmony test results back from America - so excellent.

Best of luck with your pregnancy and so glad you've been given good news by the Harmony test.

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countrymumkin1 · 05/12/2012 15:10

HI Violet. Apologies for my late reply; I have been away. I will definitely look for the other thread on Harmony testing and post there. How did your nuchal fold and combined test go? Hope all ok for you.

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VioletElizabethBott · 05/12/2012 19:22

Dear Countrymumkin1 -
All good thank you! Bloods were great and on the scan all looked normal so I cancelled my CVS with Prof Nicolaides. Phew til I panic again at 20 weeks!

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