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  1. #11
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    Default Blood test revealed high risk of down syndrome :(

    I only meant that it's included. It's standard practice not to disclose unless asked, in fact this is in writing on my NIPT results for the dr to read before going through with the you. But gender is always tested and results present- testing for sex chromosome abnormalities is standard.
    Last edited by mmaf; 09-03-2016 at 19:48.

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    KarinaJayne  (10-03-2016),turquoisecoast  (09-03-2016)

  3. #12
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    Quote Originally Posted by turquoisecoast View Post
    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.
    So even after being told it's not included if I beg I might get told?

  4. #13
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    KarinaJayne how did you go? I am 13.5wks now. Had the harmony test just after 10 wks in QLD..results arrived 5 business days later. My results were all low risk. Less than 1 in 10, 000. I did this because I'm 35...and thought why not. I have just received my results from combined blood and NT scan and have come back high risk for downs (1:22). I'm shattered but only got results an hour or so ago. I know I should be going off the harmony but it's still so confronting. I think its my HCG that is the reason. I'm 35 yo, HCG 128.0 (4.991 MoM)
    PAPP-A 1.100 (0.649 MoM)
    NT 2.4mm
    Nasal bone present.

    I'm not sure what's normal or not though, was in a bit of shock when in with the doc. She has referred me to genetic counsellor.

  5. #14
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    Quote Originally Posted by turquoisecoast View Post
    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.
    THIS! They are not diagnostic. Do not make any serious decisions based on the result. Whomever said otherwise is incorrect.

  6. #15
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    Quote Originally Posted by KarinaJayne View Post
    So even after being told it's not included if I beg I might get told?
    you tick a box on the consent form. they phoned through with my results and I had to prompt the nurse about the gender stuff and she said "you're sure you want to know" lol. if you want to keep gender a secret you could just not tick that box on the form.

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    Quote Originally Posted by LJs Mum View Post
    KarinaJayne how did you go? I am 13.5wks now. Had the harmony test just after 10 wks in QLD..results arrived 5 business days later. My results were all low risk. Less than 1 in 10, 000. I did this because I'm 35...and thought why not. I have just received my results from combined blood and NT scan and have come back high risk for downs (1:22). I'm shattered but only got results an hour or so ago. I know I should be going off the harmony but it's still so confronting. I think its my HCG that is the reason. I'm 35 yo, HCG 128.0 (4.991 MoM)
    PAPP-A 1.100 (0.649 MoM)
    NT 2.4mm
    Nasal bone present.

    I'm not sure what's normal or not though, was in a bit of shock when in with the doc. She has referred me to genetic counsellor.
    sorry to hear you've been given a high risk NT result. it's understandable you're concerned.

    I'd be going off the harmony results personally. the NT risk factor is basically a number spat out by the software based on the risk factors/variables. you're my age, our background risk based on nothing more than being 35 is something like 1:250, so you and I are high risk based PURELY on age. I'd say the combination of high hcg and low Papp-a has also thrown your risk factor up (that particular combination is a risk factor for t21) plus the NT measurement. 2.4mm isn't too bad, I think they start to get worried once it's over 3mm. nasal bone presence is good, some downs babies don't have the nasal bone present in the NT scan so presence of nasal bone is working in your favour.

    honestly, I'd go with the harmony results. they've taken your blood and tested bub's dna present in your blood, that's more reliable than plugging in factors to a software and being given a calculated risk.

    if you're really concerned, you could always get amnio or cvs to put your mind at ease.

    I honestly think you're in the clear based on what you've said, especially as harmony is saying you're low risk.

    but I also know how it feels to be in that position where you're terrified that the harmony might be wrong and your baby may be affected.

    do whatever you need to do to put your mind at ease.

    did they say anything else about the fetus based on the scan? measurements of leg bones etc can also be a soft marker for downs ie if legs seem short for gestational age.

    I wish you the best and hope you get the peace of mind (and results!) you want!

  8. #17
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    Quote Originally Posted by turquoisecoast View Post
    sorry to hear you've been given a high risk NT result. it's understandable you're concerned.

    I'd be going off the harmony results personally. the NT risk factor is basically a number spat out by the software based on the risk factors/variables. you're my age, our background risk based on nothing more than being 35 is something like 1:250, so you and I are high risk based PURELY on age. I'd say the combination of high hcg and low Papp-a has also thrown your risk factor up (that particular combination is a risk factor for t21) plus the NT measurement. 2.4mm isn't too bad, I think they start to get worried once it's over 3mm. nasal bone presence is good, some downs babies don't have the nasal bone present in the NT scan so presence of nasal bone is working in your favour.

    honestly, I'd go with the harmony results. they've taken your blood and tested bub's dna present in your blood, that's more reliable than plugging in factors to a software and being given a calculated risk.

    if you're really concerned, you could always get amnio or cvs to put your mind at ease.

    I honestly think you're in the clear based on what you've said, especially as harmony is saying you're low risk.

    but I also know how it feels to be in that position where you're terrified that the harmony might be wrong and your baby may be affected.

    do whatever you need to do to put your mind at ease.

    did they say anything else about the fetus based on the scan? measurements of leg bones etc can also be a soft marker for downs ie if legs seem short for gestational age.

    I wish you the best and hope you get the peace of mind (and results!) you want!
    Thanks for your reply and kind words ☺ it was a rough day yesterday. No they didn't mention anything else regarding the scan, I'm guessing that was all as it should be. I'm definitely glad I had the harmony, but maybe if I'd done it after these results I'd be feeling more at ease! Still waiting to hear from genetic counsellor in regards to an appt so I guess not much I can do until then.

    And yes....my risk just based on age was 1:247 anyway.

    Thanks again for your response

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  10. #18
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    Bit of a late update but my harmony test came back all good! 0.01% risk of down syndrome! I did not find out the gender at that point though. I didn't mind

  11. The Following 2 Users Say Thank You to KarinaJayne For This Useful Post:

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