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  1. #1
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    Default Blood test revealed high risk of down syndrome :(

    Forgive me if this is not the right place to post this, I have not been active on this site since I first found out I was pregnant. I want to change that and be active again as I could really use the support!

    So my NT results come back high risk of down syndrome, 1:97 and increased risk of Trisomy 18 1:173

    I ordered a harmony test right away. Hopefully it takes no longer than 2 weeks to come back!

    I had the same sort of thing happen my last pregnancy, but the risk wasn't as high as this one. I had the amnio last time and the result of that was healthy normal baby! I am hoping hard to have the same result this time around.

    If the blood test results come back as high risk still, do you know how accurate it is and whether I make a decision about the pregnancy then or would it be worth getting the amnio again to get a clearer result? Anyone else got the harmony test and didn't wait too long?

    Apparently this company doesn't offer gender through the test. Damn! Could've gone through another company to get the gender result but didn't want to wait another 3 days to order the kit.

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    sproutx3  (31-03-2016)

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    I'm so sorry Karina. We had a high risk result on an NT and had the harmony. First, what gave you the high result? Apparently the bloods mean less than the scan for chromosomal issues.

    Our harmony came back in 10 days. I'm not sure why they can't tell you the gender. They're supposed to check for abnormalities in the sex chromosomes as well as the three syndromes. I've had them from two different places and both told me the sex.

    If your harmony comes back positive (which it's unlikely to with your result) then they'll offer a cvs. If that comes back positive they'll offer an amnio at 15 weeks in case the cells are confined to the placenta.

    If the harmony comes back negative, breathe a sigh of relief but I'd also ask what your Papp a was and if you need to be concerned about growth restriction.

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    Thank you for your reply!

    I have a page of the results which I don't understand very well and my doctor didn't explain what gave me the high result.

    On the information pamphlet from the company I got the harmony test kit from it mentioned something about the fetal's sex, so I am thinking it might automatically have the answer in my results.

    My Papp a according to the results page was: 0.47 MoM, whatever that means!

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    Default Blood test revealed high risk of down syndrome :(

    The MoM is 'multiples of the median'. So it's a scale. Normal levels of HCG and Papp a will give you a result of around 1. High levels of hcg and low levels of Papp a can be indicators of some syndromes (or they can mean nothing). Low Papp a can also indicate an underperforming placenta. Papp a is tricky though. DS1 had Papp a of 0.6 and was born at 4kg so it can mean nothing.

    With the scan results, they like the nuchal fold to be under 2.5 and they like a nasal bone to be present.

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    we got high risk for t21 (was about 1:195 from memory) - I had high hcg and low Papp-A which can indicate t21.

    we got the harmony test done which came back as low risk and put us in the clear.

    I would not be making a decision about continuing a pregnancy based on the harmony test result as its not a diagnostic test. had we received a high risk result from harmony I would've had an amnio then made a decision based on that.

    only amnio and cvs are diagnostic tests which can definitively tell you whether a fetus is affected by any of the trisomies.

    good luck X

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    KarinaJayne  (09-03-2016)

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    Will reply later too tired ATM .

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    Default Blood test revealed high risk of down syndrome :(

    Quote Originally Posted by KarinaJayne View Post
    Thank you for your reply!

    I have a page of the results which I don't understand very well and my doctor didn't explain what gave me the high result.

    On the information pamphlet from the company I got the harmony test kit from it mentioned something about the fetal's sex, so I am thinking it might automatically have the answer in my results.

    My Papp a according to the results page was: 0.47 MoM, whatever that means!
    my Papp-A was 0.39. apparently 0.4 is the cut off where they get concerned. so I was just under.

    once the chromosomal stuff was ruled out the focus shifted to monitoring the pregnancy for any adverse effects of low Papp-A. as others have said, it can indicate an increased risk of placental failure, miscarriage/still birth, preterm birth, pre eclampsia, intra-uterine growth restriction etc. basically all the fun stuff. I was quite freaked out as it sounded super serious but an OB pointed out its still quite a new area for them (the Papp-A levels I mean) and he said in many cases it means nothing. he said even in the cases where an issue does eventuate, the Papp-A level doesn't really help to identify what the issue may end up being. so it's basically this general red flag but mightn't mean anything at all.

    I basically had much closer monitoring which meant more frequent visits and regular growth scans. they also did a few urine tests to check for protein in my wee, which can be a sign of PE.

    ultimately, my low Papp-A meant nothing. my little boy was growing well and my placenta was functioning perfectly to feed him. he was born at 3.82kg so definitely no iugr here. as the pregnancy progressed normally, I started to relax and stop being so terrified of a blood test result that had been taken 6 months ago.

    your Papp-A isn't really diabolical. as I said, 0.4 is the cut off where they consider it really low. I think your hcg and Papp-A levels are both supposed to be around 1 MoM. 0.47 is just a bit under half of what they should be and well clear of the 0.4 cut off.

    has your OB or anyone else discussed what the result means and how the pregnancy will be managed going forward?

    I know it's easier said than done but please try not to stress out too much. I let all the numbers get to me a bit and it does fck with your head. make sure you get everything explained to you in lots of detail and ensure you understand what they're telling you xx
    Last edited by turquoisecoast; 09-03-2016 at 19:49.

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    KarinaJayne  (09-03-2016)

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    No my OB hasn't discussed anything like that with me, I really should be asking more questions. I'm not stressing anywhere near as much as 2 days ago after reading a lot of different forum posts on this subject, and my replies to this post

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    turquoisecoast  (09-03-2016)

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    Default Blood test revealed high risk of down syndrome :(

    Harmony is 99.9% accurate and only considered non-diagnostic due to red tape. If it comes back low risk, you are pretty much in the clear. And yes, gender will automatically be included in your results

    Ps for anyone considering Harmony- we do this test locally under different brand names now with results in 2-5 days. (Percept is one in VIC, labs done at RCH; iGene is another; & Genea).
    Last edited by mmaf; 09-03-2016 at 20:56.

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    Quote Originally Posted by mmaf View Post
    Harmony is 99.9% accurate and only considered non-diagnostic due to red tape. If it comes back low risk, you are pretty much in the clear. And yes, gender will automatically be included in your results

    Ps for anyone considering Harmony- we do this test locally under different brand names now with results in 2-5 days.
    it's not automatically included, we had to opt in. even when they phoned to give me my result, I had to prompt her for the gender result. OB predicted a boy based on boy bits she saw at the NT scan and harmony confirmed we were having a boy.

    I'd definitely recommend harmony before amnio. it's a simple blood test, I think I had the results within a week (they get sent to the US for analysis) albeit it's not cheap.


 

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