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absent nasal bone

So this is my first time posting. I'm 26 will be 27 when I deliver my husband is 32 we are both Caucasian. We have 2 health kiddos a boy and a girl and are pregnant with #3. We had our anatomy scan today, I'm 19w6d found out we are having another girl. What concerns me is they said the nasal bone is absent. Now my NT scan came back fine as well as my blood work. The genetics counselor said we have a .1% chance of a child with down syndrome.  We are not sure we will do an amino because with that we are told there is a .4% chance of miscarriage. I have an appointment with my ob in 2 weeks. I think I am just worrying over nothing hut thought I'd see if anyone else has had similar situations.
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2083571 tn?1339481452
I suppose you really need to ask yourself what you would do if you got bad amnio results.. If the answer is nothing then there's no point doing it.
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1806883 tn?1458321004
It would def throw me as well, but your right, your risk is higer for miscarriage than downs, so for me it wouldnt be worth it, and by this stage you would think that there would def be other markers visiable, like  the curved little finger etc, good luck with what ever decision you choose
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Avatar universal
Thank you, I guess it just threw me cause I had never heard of an absent nasal bone so obviously never met anyone that has had this.
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2195822 tn?1341056911
My cousin has no nasal bone and she doesn't have downs syndrome or anything else wrong. You do what you feel is right. Id talk to a doc about your concerns. I'm sure they'll help advise. Good luck and keep us posted.
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Avatar universal
Thanks for your response Stacy10
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Avatar universal
I'm not sure because its a point 4% chance of miscarriage and I only have a point 1% chance of down syndrome. So to me it seems a higher risk of miscarriage then down syndrome.
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1806883 tn?1458321004
Oh wow, well I see how this would come as a surprise than as that ratio is really good, I hope your able to find some answers, are you leaning towards an amnio?
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Avatar universal
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Avatar universal
1:9665 everything else in my scan today was fine the baby is actually measuring a week ahead, the tech and genetic counselor both said that the absent nasal bone was the only marker they have detected.
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1806883 tn?1458321004
the problem with the early blood work and n/scan is it doesnt always pick things up, you can get false positives and false negatives, and the n/fold measurement does depend alot on the skill of the sonographer doing the measurements, some places the risk of amnio is higher, here in australia the risk is about 1:100, I've had an amnio done with one of my pregnancies, it was uncomfortable, it went well but I dont think I'd be in a hurry to do another one, if you dont min my asking what was your ratio for downs after the n/s and bloodwork?
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