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  1. #1
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    Default Confusing information about Down Syndrome tests

    I had my nuchal scan and a blood test done at the same time as I have Down Syndrome in the family. This is automatically a red flag it seems.

    My scan was fine. The neck folds were measured and the nasal bone thing and everything was within average limits and such. And afterwards the sonographer gave us the results and said we weren't in the high risk range.

    However I have been to see the midwives and check in at the hospital.
    And she was very concerned about the risk number from the blood test. My risk assessed at 1 in 357. My understanding was less than 300 is bad, and the sonographer said 'even if it was 1 in 301 I wouldn't recommend further testing.'

    The midwives concern was so great that she actually started to rattle me. And I have no issues regarding a special needs child, I am more than prepared to deal with the extra needs that go along with that, I'm well versed in what goes on with a Down Syndrome child. DH and I both know it's a slim risk due to the fact we have someone in the family with it. But it didn't put us off having any children. I thoroughly believe it was age related in that circumstance and I've been told as much. I am not even 30 yet.

    Should I be concerned, even though it changes nothing, so I guess I mean should I prepare for the very real chance that this baby has Down Syndrome? Or is the midwife, naturally so, just voicing concerns because the numbers aren't as high as she would expect or want. The sonographer was very confident, and I believe she was competent at her job, described absolutely everything she was doing during our scan.

    Anyone able to soothe my now awakened concerns? Thanks.

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    Default Confusing information about Down Syndrome tests

    sorry to hear the mw has rattled you. oh and congrats on your pregnancy!

    the risk you've been given (1 in 357) is actually not high risk. anything less than 300 is deemed high risk. the way to think about it is to say there's 356 white balls and 1 red ball. pick a ball, now what is the likelihood of getting that red ball amongst all those white balls? pretty slim right?

    the numbers and stats are just that, numbers generated on a set of variables that get plugged into their software to come out with a risk factor. it doesn't mean much by itself. I'd be getting seriously concerned around the 1 in 50 level but even then, your chances are only 2%.

    given you've stated a special needs child would not be an issue, I wouldn't allow what the mw said to upset you any further. in my experience they often say redundant and upsetting things that do very little to help a sensitive or delicate situation.

    when we had our NT scan, the scan came back perfect. my bloods however threw things into disarray (low Papp A and high beta hcg, which can be a risk factor for t21) plus my age was a risk factor on its own (35). this was all computed into a risk of 1 in about 200 I think from memory. not diabolical but less than 300 so I was deemed high risk for t21. the risk factor for the other 2 trisomies came back very low.

    we were advised to move onto the harmony test to see if that would get us off the hook so we did that. luckily it came back low risk so we stopped there. had the harmony come back high risk, it would've meant we moved onto amnio.

    the whole thing was stressful and upsetting but we tried to keep a clear head. my gut feeling was that my baby was not DS but it's always a bit scary waiting for test results.

    the low Papp A has meant I've received additional monitoring during this pregnancy as it can be a risk for pre eclampsia, iugr, placental failure, miscarriage/still birth etc. thankfully, it has not caused us any issues and we've enjoyed a low risk, textbook pregnancy so far. my last mw visit however, there was a mention of being induced due to risk of still birth. this came out of nowhere and was a totally obsolete comment to make to an expecting mum. I didn't take it on at all as I know we are low risk and there's nothing to suggest I'd need inducing based on a blood test result from over 6 months ago! but these midwives sometimes speak without thinking so it's best to just let them say their bit and not take it to heart.

    given your risk level, I don't think there's any need for amnio (as the risk of miscarriage from amnio, about 1 in 200, would be higher than your risk of t21). you could get the harmony test if you wish to put your minds at ease. it's just a simple blood test so totally non invasive.

    all the best!
    Last edited by turquoisecoast; 17-02-2016 at 08:24.

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    Balfour  (17-02-2016)

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    Mine was similar, like you said scan fine, bloods made it a little crazy. I'm not worried and would continue either way, I was just thrown because of how strong she came on and insinuated it was a really big risk. Suddenly all my education on the topic was gone and I was sitting there starting to nod along. Should have eaten beforehand lol.

    I have low Papp A apparently, my doctor wants me to be blood tested again. The harmony test is quite expensive isn't it? I haven't looked into it, but a friend mentioned it was 500 dollars and I thought that's crazy for blood. But now I see what it does.

    Thanks for your reply, its always hard when you get rattled by a midwife. One told me I was going to die during birth once, so this isn't the worse thing.

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    turquoisecoast  (17-02-2016)

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    Default Confusing information about Down Syndrome tests

    they say some stupid things, as I'm slowly discovering. to say you might die is just totally unprofessional. I don't know where they get off allowing such stupid things to exit their mouths.

    the harmony cost $475 I think from memory. we had it done at Freemasons. you get nothing back on Medicare so fully out of pocket but you don't need a referral for it. look it's a lot of coin for one test but it was worth it for us for the peace of mind and without having to move onto more invasive testing. everyone is different.

    are you going public for this bub? have you had a chance to discuss the results with an OB? tbh I'm not really sure why the mw is commenting on test results as it's not really their job. the results should be reviewed and signed off by a doctor, not a nurse. when I got my results, the consulting OB at Freemasons called me for a chat. she went over the blood work and the possible implications and then discussed that in context of my scan and age. she said to me "I dont believe you have a downs baby but I would recommend harmony testing to confirm that".

    it sounds like this midwife you've seen has jumped on a few risk factors and is hyping this up to be something it's not. and causing you grief in the mean time.

    I would phone your hospital and request an appointment with an obstetrician to discuss the results. mention this midwife experience and just say you don't feel 100% clear or happy with the info you've been given and want an opportunity to discuss it further.

    this is a big deal (regardless of the outcome of the testing) and you deserve to have the full medical facts so you know what is in front of you. getting shady facts and half truths and scare tactics from uninformed midwives doesn't really help much.

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    Balfour  (17-02-2016)

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    Thank you. I've got an appointment with my doctor this week and I plan to ask him what he thinks and I'll call up and try to see an OB. I think you're right, regardless of my stance on the matter, its not fair to say that to someone. In my experience with every baby the mere mention of family Down Syndrome causes panic among midwives and one doctor.

    I think its worth pursuing, if not just to let this particular midwife know its not cool. What if I'd been some first time mother, completely on edge about it.

    Probably just need to get it out and have someone say yeah that's not right, even though either way you'd go ahead.

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    turquoisecoast  (17-02-2016)

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    It can be quite daunting. My Nuchal scan and blood test results came back low but a girlfriend of mine, when she was pregnant got a very high risk of 1 in 50 for trisomy 21 so she had to have an amniocentisis at 15 weeks. Anyway after all that she just recently gave birth to a healthy baby boy. So yes all of these tests can be very unnerving. The midwives I find can sometimes have conflicting info. I saw some recently at an appointment and what they told me was nothing like what the doctor had told me.

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    Balfour  (17-02-2016)

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    The risk number is probably just on account of your family member having downs syndrome that bumped you up. We never tested because, due to my age, the number was always going to show high risk anyhow and we weren't prepared to do further testing so it wasn't helpful. So the number may not be at all related to what tests showed, more to do with your risk factors.

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    Balfour  (17-02-2016)

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    Update

    I just had another appointment at the hospital, this time with a doctor. Once again the issues about my "test results" came up and I was offered diagnostic testing. I declined both because a) one is pretty intrusive and I'm not putting me or baby through that and b) harmony testing is expensive and given that all it would do is confirm or deny, I don't see the point. It wouldn't lead to termination.

    However, I still don't understand the "test results" completely and when I asked about them I was told I was correct, I was not classed as high risk based on the "evident results" but more on my "statistical results". I'm took this to mean that the factors that start changing your chances; age, baby, family history, bring my risk level up to the point that my results, the low blood test result, put me into high risk.

    However, I triple checked that the NT fold and any features of chromosomal abnormality were not apparent. It sounds all incredibly precautionary but none the less I'm still not told exactly WHY I'm high risk, just sort of having different information thrown at me.

    I'm more replying to my thread in case another pregnant lady finds herself in this position with all these daunting midwives and doctors trying to scare her and let her know that there's only one sure fire way to know and that's the diagnostic (and I'm not sure of its percentage rate on accuracy, I know its high). I won't know until I hold the baby in my arms. But still why is it so confusing?


 

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