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    Default Soft markers but Amnio Normal.

    Hi all.
    I was wondering if anyone may have had any similar experiences to me when it comes to a high nuchual rate. I found out I was expecting my second child in April and of course was so excited, I then had my nuchual translucency screening for abnormalities and my scan and bloods came back that I had a 1/120 risk for Trismomy 21, because there was quiet a bit of swelling behind the baby's neck at my early scan not sure exactly what the nuchual fold was but this was very surprising for me as I am only 21 years old and wasn't aware that these things could happen at this age. Anyway I decided that I would have an Annio I had that at 16 weeks and while doing my scan the lady had found that there was still quiet a bit of swelling around my babies neck and he also had an extra digit on each hand, after hearing that I cryed after leaving the facility and most days up until I received my results it was a very stressful week, I got my FISH results back after 2 days and they came back normal I then got the full test results back a week later and everything was also NORMAL. I was so relieved, but now the doctors are sending me to a bigger facility in a different town to have further scanning I will be 20 weeks next week when I get this scan done. I am not sure weather I should feel relieved or still be a little worried about the fingers and the swelling behind the baby's neck, I know Amnios are quiet accurate, but is there a chance that something else could be wrong, are these serious markers?

    Thanks for listening to my story.

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    amnio is a diagnostic test and is 100% accurate. if there is no t21 from the test results, your baby does not have Down's syndrome.

    a larger nuchal measurement is not indicative of anything by itself and there is a range of what is considered within the normal range.

    the extra digit on each hand is not (to my knowledge) any kind of marker for t21. this could be totally unrelated to the chromosomal stuff.

    have you chatted with a genetic counsellor?

    fwiw my baby looked perfect in the NT scan, no soft markers for any of the trisomies. my blood work came back as being high risk for t21 though. I ended up doing the harmony test, which ultimately gave us the all clear. my ds was born in feb as perfect as can be.

    if you've had a normal amnio result I don't think you have anything to worry about.

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    Did the amnio test for other more rare disorders or only the most common? Unfortunately there are some disorders that it can't test for so either everything is fine or you are going to need to wait for the scan to hopefully tell you more. Two soft markers can mean things are totally fine or it can be indicative of some sort of genetic abnormality, I think it's three soft markers that indicate a definite disorder. I'm sorry I can't be more help but hopefully you hear more next week.

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    They will probably look in more detail at the baby's heart. I had a high nuchal measurement of 10mm ( off the chart) and my amnio was also normal. However there was a heart related issue which was causing the fluid build up at the back of the neck. After my amnio I was sent for a detailed heart scan and this is where they picked up the issue.

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    Soft markers are exactly that. They are not a definitive diagnosis. They are used as an indicator that more tests may be required. However the majority of people with soft markers are chromosomally normal.

    For example a sandal gap toe (wide space between between first and second toe) is relatively common. However it is found about 50% of people with Down Syndrome. As only a small percentage of people have Down Syndrome, the overwhelming number of people with a sandal gap toe do not have Down Syndrome.

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    Hi, I'm sorry you have found yourself in this situation and while the amnio may have come back clear for the 3 trisomies you may still have some rarer chromosome or genetic thing going on with your baby, yesterday I needed up by reading a very informative thread on high nt measurement which lead some women into finding that their babies had other things going on, if you google high nt measurement support thread essential baby the threads will come up, there are 45 of them but they are full of info that you may find helpful as some ladies ended up by doing a micro array with their amnio so in which the other issues showed up, good luck

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    Thanks so much for all your replies! I have an appointment at Maternal Fetal Medicine on Tuesday so I guess I will find out then if there is anything further I should be worried about.

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    Quote Originally Posted by HollyGolightly81 View Post
    Did the amnio test for other more rare disorders or only the most common? Unfortunately there are some disorders that it can't test for so either everything is fine or you are going to need to wait for the scan to hopefully tell you more. Two soft markers can mean things are totally fine or it can be indicative of some sort of genetic abnormality, I think it's three soft markers that indicate a definite disorder. I'm sorry I can't be more help but hopefully you hear more next week.


    Thank you.
    I am not sure exactly what the Amnio tested for. It was my understanding that it tests for the 3 common trisomies and can also test for any other common disorders. Do you know what types of disorders the Amnio cannot test for that could relate to swelling around the neck?
    Last edited by brookef; 20-08-2016 at 13:18.

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    Quote Originally Posted by Green lady View Post
    They will probably look in more detail at the baby's heart. I had a high nuchal measurement of 10mm ( off the chart) and my amnio was also normal. However there was a heart related issue which was causing the fluid build up at the back of the neck. After my amnio I was sent for a detailed heart scan and this is where they picked up the issue.
    Thanks for your reply. If you don't mind me asking how did it all turn out for you?

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    Quote Originally Posted by brookef View Post
    Thank you.
    I am not sure exactly what the Amnio tested for. It was my understanding that it tests for the 3 common trisomies and can also test for any other common disorders. Do you know what types of disorders the Amnio cannot test for that could relate to swelling around the neck?
    Amnios test for much more than the 3 main trisomies. The FISH results only test for a few things, but AFAIK the full results test for trisomies on all chromosomes, sex chromosome disorders eg Turners syndrome and whole lot of other conditions eg detetions on chromosomes and translocations. I have heard of some rare translocations and microdeletions not being picked up but I must stress they are rare. I have a daughter with a rare condition so have come across this type of thing more than most people would have. I must stress that as your amnio has come back clear I would not worry. I know it is easier said than done though.

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