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  1. #1
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    Default Nuchal measurement 5.1 but bloods good.

    I guess you never think it'll be you that has problems...!

    Went in for my 12 week ultrasound yesterday, and baby's nuchal translucency measurement was 5.1mm. Under 3 is normal so this is BIG.

    Everything else with bubs looks totally normal/healthy.

    My blood results were very good. I am 31 years old.

    My calculated Downs risk is 1:264. Which I don't think sounds very high, given how large the nuchal measurement is and that downs is the most likely cause of the high measurement. I know there's a range of other possibilities, but sounds like none of them are that likely (my Edward's syndrome risk factor was 1 in 12,000). So I don't quite understand then what is most likely to be the problem.

    My doctor gave me an estimated 50/50 chance of having a normal healthy baby.

    So now the decision is whether to do an amniocentesis. I always said I never would do something that placed the baby at risk (even though the risk is small). There is no way I will terminate the pregnancy. So therefore is there any point in having the amnio? My only thought as to why is that I'm just really anxious/upset not knowing. If my baby has Downs then I will do my best to give him/her the best life I can, but I think I would just rather know beforehand so I can get better educated/find support groups etc. And if the amnio detailed results show other syndrome factors then potentially the pregnancy/birth will be managed differently so it'd be best to know?

    I'm so shattered, yesterday I thought everything was going to according to plan (I already have health 4yo DD and 2yo DS) and now I just don't know how to feel.

    Not sure why I'm really posting this, guess I'm just wondering if anyone has stories to share!

  2. #2
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    I think it's definitely best to know in advance - regardless what your decision would be about continuing the pregnancy.

    You can opt to have a blood test which tests the baby's DNA in your blood to look for trisomy issues. I had a 1:195 risk of downs, so doc referred my to have the Verifi test. Different companies go by different names, but essentially it's the same test. They are highly accurate and mine cost $900.

    Unlike an amnio, there is absolutely no risk to bubs. If they find something, they do suggest having an amnio to confirm 100% but it's a great middle of the road option. It takes 10 days to get results back.

  3. #3
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    U poor thing.

    Ive gone/ going thru a similar thing. High NT reading but everything else is clear. Passed amnio etc so now @ 20 weeks im just left wth a fetal cystic hygroma thats expected to resolve befor birth.

    Its so hard and totally sucks at the time but i sincerely hope that a high NT measurement is all ur left wth.

    They searched bub for a heart abnormailty or other defects but nothing has been found. I just hope i can offer you hope that there is still hope you will end up wth a perfectly healthy little bub. Miracles do happen dont give up yet. X

  4. #4
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    Quote Originally Posted by Missbear1980 View Post
    U poor thing.

    Ive gone/ going thru a similar thing. High NT reading but everything else is clear. Passed amnio etc so now @ 20 weeks im just left wth a fetal cystic hygroma thats expected to resolve befor birth.

    Its so hard and totally sucks at the time but i sincerely hope that a high NT measurement is all ur left wth.

    They searched bub for a heart abnormailty or other defects but nothing has been found. I just hope i can offer you hope that there is still hope you will end up wth a perfectly healthy little bub. Miracles do happen dont give up yet. X
    My story with DS1 is very similar to this. NT if 7.5, DS risk of 1:5. Ended up with a very normal baby. Can you look at maybe getting some genetic counselling? Might help you answer whether to have an amnio - or could you have CVS? They do it up to 14w at most places.

  5. #5
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    I would try the maternal blood test - mine was called harmony but like Arlais said they go by different names. It's supposed to be 99% accurate with no risk so except for the financial cost (mine was $700) it wouldn't do any harm. You should be left with a pretty good idea if large nt could be caused by chromosomal issue. Odds seem in your favour with good blood results, but you could get that bit of extra reassurance/information without any risk to bub. But I guess it depends on how important it feels to you to know?
    I've read loads of message boards about babies with large nt measurement and so many have had completely healthy babies. It's just one indicator. Best of luck.

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    Hi lisab82,

    I just wanted to wish you the best, whichever way to decide to go in regards to further testing, and to let you know that if it does turn out that your bub has Ds, and you want to talk to another Mum about what that's like, please feel free to PM me.

    Good luck; I'm sure ti's a very stressful time for you.

  7. #7
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    I don't have to imagine what you are going through right now as I am also living this nightmare.

    My 12 week scan showed a measurement of 5mm and I was given a 1:6 risk - I am also only 32. Bloods were in the normal range but the calculation was always going to be high risk based purely on the nuchal measurement.

    I went from being finally able to tell people to making a heartbreaking choice. I went straight to a CVS test as the risk was so high and I wanted information as soon as possible to be able to tell what we were dealing with. This is also my first pregnancy and my partner is currently away with the Army.

    My CVS test was scary but not painful - very uncomfortable and you do feel pushing and pressure. What helped through the whole process was the amazing midwives who supported me through the whole process and the genetics counselling. The counsellors are skilled in this process - and as they said to me whilst you have never done this before we have - we will get you through this.

    I elected for the FISH results - these results only look at the 13, 18 & 21 Chromosomes and are available in 24 hours. The results were phoned through to me yesterday morning less than 24 hours after the CVS and at this stage it is clear for any abnormality in the 13, 18 & 21 chromosomes and X,Y. So now we wait for 10 days for full chromosomal listing and then another scan at 16 weeks.

    My reasons for getting the CVS was to have information early on in the pregnancy to make informed choices. The risks associated with the procedure were far lower than the risk something was wrong with my baby.

    This whole process is exhausting, terrifying and awful. There is no way else to describe it. I also hope whatever you choose to do your baby is healthy and happy.

    I was also extremely let down by the lack of information available to me in the days between the GP appointment and hospital.

  8. #8
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    I feel for you, I went through the same thing with my first pregnancy. After my NT scan my reduced risk of downs was 1:260. I decided not to have the amnio as the risk of miscarriage was higher than the downs risk. We now have a beautiful and very healthy 2 year old boy who is actually advanced for his age.
    I always said I would not have the NT scan with my 2nd pregnancy, but I did, and I shouldn't have. Yet again, my results were reduced, this time for T13 which is the worst one, and my risk was 1:160 this time. I was in panic mode again but still dead against having an amnio, despite the doctors pushing me. We waited until the 20 week scan and saw a specialist to go over everything. Usually T13 will show up on scans as there are abnormalities and they are noticeable. Anyway, ultrasound was 100% perfect. No signs of any problems at all. I am now 30 weeks and can't wait to meet out little girl.
    Don't work yourself up over this, these stupid NT scans are so inaccurate, I don't know why they even bother to do them. You still have a 263:264 chance that bub is fine, that's pretty good odds.

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