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Thread: Tests for down syndrome

  1. #19

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    Hi all, I am new to this site but I was hoping I could read or speak to someone in the same position as myself. I too got a high risk result back from my Nuchal scan and it was my bloods that pushed us into the High Risk category. The fluid around the babies neck was measured at 1.9mm which I researched the internet and found that, that is quite normal. I at first opted against having an amnio done as I thought it would be ok, but it seems every doctor/person I speak to asks if I am going to have any more invasive tests done. I haven't slept well for the last 2 nights as I keep thinking 'what if'. I ended getting my referral and booking in for my amnio today which is scheduled for next Friday. I am so nervous but I need to know if my baby is going to be ok, for my own piece of mind. I don't think I could go another 5.5months wonderign if the baby will be ok. I was very upset at the fact that the sonographers give you a ratio number instead of a percentage. For example, I am a high risk with 1:246 which is .04% chance of having a baby with down Syndrome or 99.6% chance of having a healthy baby. When you look at it like that it doesn't seem so bad, its the ratio numbers that make it look bad and scary! Anyway, that was just my little opinion.


  2. #20

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    Hi I was 1:35 and it was my bloods that were bad too my scan was fine. I had the amino and went on to have a healthy baby with no problems. I too was very upset when told I was high risk for downs and never slept and cried all the time. That was when I found Belly Belly and I have never looked back since.

  3. #21

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    Thanks Leemar for your reply. What was the amnio like? Is it as scary as it is described? How long did it take for the results and how long after it is done do you know if you are going to miscarry or not? I am really scared!

  4. #22

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    When I was pregnant with my first son this ***** of a midwife told me that he had downs syndrome and that I should abort him!!
    After I reported her I met with both a doctor and a councillor who explained to me that doing an amnio could result in a miscarriage.
    After much soul searching and consultation I decided that if he had it I would deal with it.
    He was born a perfectly healthy boy with NO traits of downs.
    Eventhough 2 tests showed he did, so this goes to show that tests aren't always correct.

    Hope this helps in your decision.

  5. #23

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    Hi Joss,

    When they did my amino I got one test back in a few day and then the other was a about a week or 2 later. When they do an amino they dont just test for downs they check all chromosones. It didnt hurt just felt a little uncomfortable. I too was very scared just like you. After I got back all good test results they told me that because my bloods were bad I might have a small baby. Well She was 9pd 7oz born 2 weeks early by elective C-Section and perfectly healthy in everyway. I am glad I did the test as I personaly word rather had known what to expect so I could have prepaired myslelf with information. In regards to miscaraige I can not remember what the odds where or even how long it took but they will advise of all this information or you can look it up on the net. I hope all goes well and wish you all the best. :hugs:

  6. #24

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    Hi Nikki and Joss, I'm another who returned a high results, 'normal' measurement but the blood test came back high & I was 35 which puts you into a higher risk bracket as well. My DH was about to go o/seas for 4 months and I didn't think I could cope with wondering 'what if' for the whole pregnancy without his support. Plus if we were going to have a Downs baby I wanted time to research and prepare myself. So we had a CVS, it was done around week 13, just days before DH left the country. However the procedure wasn't done until we had seen a genetic counsellor and discussed the pros and cons and what it all meant, so I was armed with information & support from her. I found the CVS procedure quite painful (and therefore scary), which they told me is very unusual, because my uterus was in a weird & unusual position, plus the particular OB who did it had zero bedside manner! However the first results came through very quickly and all was well. I would make the same decisions all over again because it's important to me to have the information instead of wondering.

  7. #25

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    joss - I didn't feel anything with my amnio - just felt a kind of "whoosh" as the doc thrust his arm down towards my tummy but didn't feel a thing. The only other woman I know IRL who has had one felt nothing too - and from what I've read most women don't get pain from it. I just got back from a scan tonight and I've been told everything looks absolutely perfect and I'm now measuring 5 days ahead even though I'd been warned by my OB to expect slow growth due to the abnormal 12 week scan. Just remember that most people who have a high risk have a completely normal baby.

  8. #26

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    My 12 week scan put me at 1:1100 but the nuchal translucency at my 20 week scan put me at 1:104! They originally couldn't fit us in for two weeks (!) but they fitted us in in four days for an amnio. I didn't have a local which I believe some doctors offer, and it hurt a little, I guess like a normal needle. It is a really long needle so I think the mental torture is worse. lol.

    We got the FISH results in two days which I think are the main DS chromosomes and also found out the gender. The final tests came back about two weeks later.

    It was quite a relief to find out everything was fine. I was mentally prepared at my 12 week scan for abnormal results but was totally devastated to have this come up at the 20 week scan.

    Good Luck with everything.

  9. #27

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    Dear Joss

    I hope all is well. I'd just like to say that I'm very glad I never had all the tests and worry that go along with them. I had 4 lovely (boringly normal) pregnancies with no concerns. All my babies were born within a week of their due date, good sizes with drug free births, quick labours, breastfed exclusively from birth and with no health issues. Oh did I mention that my 4th child has Down Syndrome? No prenatal test can tell you what it is like living with a child with Down Syndrome and whether you will cope or not.

    She has been perfectly healthy, growing nicely, developing nicely and my easiest baby yet! I constantly thank God for an easy baby after I had 2 very full on babies (#3 is STILL a handful so I'm glad to have #4 who's laid back and non-demanding).

    It really does sound scary all this waiting and wondering pre-birth. I think we can caught up in the what if's though. With all of our children, we cannot predict the future and what is in stall for us as parents. I don't know what is going to happen with any of my children. I don't know who will leave home first, get married last, have a good job, be hospitalised, etc etc. I just take each day as it comes. My biggest concern right now is for my 3yr old (without Down Syndrome) because he is the kind of kid who 'wanders' and would be the one out of all my children to run onto the road and get run over. I don't not want him though because if he did do that and ended up with severe disabilites I would find it difficult to cope. I will just deal with that when and IF it happens.

    Good luck with the pregnancy and yeah, look at the positives eg 1:246 = 99.6% chance of everything being fine. That's good odds!

    Cas

  10. #28

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    Hi - did you find out any more since you first posted? I hope everything turns out fine, and in nearly all cases it does. My NT meausrement with my last pregnancy was 2.3mm, but the bloodwork pushed me very high risk. Had CVS and found out my baby did have DS. I'm now about to have my NT scan for this pregnancy, and am very anxious about it. Sometimes I wish this test just wasn't around! Good luck! Lee x

  11. #29

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    Hey Lee......I have found so much support after posting my query and I have found out so much more information about it also. I am still nervous and a little scared which I would say is normal but I do understand that this procedure is doen often and I am going to a really good doctor so I am at ease with that. All i can do is pray and hope for the best. Good luck with your NT scan soon, let me know how you go! xx

  12. #30

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    I imagine this is your first and I can understand you being a little worried, the statistics are on your side if that helps any.

    With my 2nd and 3 rd babies I didn't bother with these tests. TBH, I didn't feel it would change anything for me - if the child was born with Downs then so be it. It wasn't like I could or would do anything about it, and I didn't have to worry or stress. JMHO.

  13. #31

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    Dear Cas (Nangari)

    Thank you for such a refreshing post and a look into your life with your kids.

    Take care,

    Kate

  14. #32
    Miche Guest

    Smile Thanks to all

    Hi everyone. I just wanted to say thanks for all your words of advice to Nikkie about Down Syndrome testing etc. I too am about to undergo an amnio test as I have just found out that my NF & Blood works + my age (40) put me at a 1in175 risk factor, which scared me a lot.
    With my first child (now almost 2 and beautifully healthy) I had a 1in1500 risk so didn't worry about the amnio, however this time round I don't think I could get through the next 6/7 months without knowing one way or another. Worst case scenario, I'd like to know beforehand so that at the time of birth I'm prepared - at least as much as you can prepare yourself mentally. My biggest fear is of course the unknown.
    A friend of mine had an amnio and her results were fine, she has a very healthy 5yr old now. She also told me the needle hardly hurt, you do feel it, but no worse than any standard needle - it's just the size that's frightening. The only after effect she experienced was that she was tired for a day. however I think this is largely due to the stress we place upon ourselves leading up to the test.
    Anyway, being new to this website and forum and reading the responses you posted for Nikkie, has lifted a weight from my mind and has answered questions I didn't even know I had.
    I will be having my amnio at 16 weeks (2 weeks time) and just can't wait to get it done and get the results. Am madly eating lots of chocolate at the moment out of comfort and will of course pay for this later as I'm also at a high risk of gestational diabetes (which I had with my first pregnancy).
    So overall, due to my history of gest. diab. + I've had 3 miscarriages and now the nuchual fold test results, I've been a bundle of nerves.... but now at least I have some comfort from the feedback I found on this site.
    THANKS EVER SO MUCH.

  15. #33

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    Hi Miche

    The risk of having a pregnancy with down syndrome for someone who is 40 years old based on age alone is 1/60.

    If your risk with NF and blood has been calculated at 1/175, this is much better odds than based on your age alone. Therefore, the measurements taken (NF and blood enzymes) must have been really good. Has anybody explained this to you?

    If you want to find more info or talk through the process of amnio, a genetic counsellor can help.

    Good luck with the amnio,

    Kate

  16. #34

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    Hi everyone sorry ive been mia my internets been down forever!! All tests came back good i didnt go through with an amnio but from the blood test i was low risk a lot of stressing about nothing!! Thanks for all your support and information

  17. #35
    Miche Guest

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    Hi everyone
    Thanks for all the information and support, like Nikkie, I've got my amnio results back and they've all come back as normal, so worry was for nothing. However the worry was certainly eased by the support and information I received from this site.
    I also found out I'm having a girl (couldn't wait this time round) and so now I'll have 2 beautiful girls. Number 1 girl turns "2" next week (dob 06/06/06!!!) and she's looking forward to meeting her new little sister one day.
    Thanks again to all and I look forward to spending more time on this site.
    Miche.

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