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Kellz View Drop Down
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    Posted: 21 February 2008 at 3:21pm
Does anyone know if its possible to have a baby with a mild form of downs, even when an amniocentesis in pregnancy was negative?
My neice has always has a strange shaped, large head. She has a big forehead and sukken eyes, and flat bridge of her nose. Plus odd shaped toes. She is 10 months odl, and meeting developmental milestones.
But when I saw an article in a mag about twins with Downs, I was astounded how similar they look to my neice. Plus a friend on neices mum asked another of her friends if my niece had Downs, because she said she looked like she did.

TIA
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Rachael21 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Rachael21 Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 3:53pm
Downs is when there are 3 chromosomes on number 13 instead of 2 so if the amnio says there were 2 then she doesn't have it. I'm not sure how accurate the amnio is tho?
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Post Options Post Options   Thanks (0) Thanks(0)   Quote fire_engine Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 3:56pm
If she's meeting her milestones, I'd be surprised if its DS, and amnio is very accurate. However, there are lots of syndromes out there, most of which aren't screened for on amnio. If there are concerns, ask the GP for a referral to a developmental pediatrician
Mum to two wee boys
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Kellz View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Kellz Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 3:58pm
Yeah I was wondering about the accuracy also. She had the nuchal fold scan,..and got 3 different measurements, so the scan was sent away to be looked at by someone more senior, and it came back at a 1:32 chance of downs (shes only in her early 20's so it wasnt increased cos of age). So she went on to have the amnio.
Do u know if there is a simple test they could do of my neice now to find out?
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Kellz View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Kellz Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 3:59pm
Oh cool thanks for that Flissty.
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Post Options Post Options   Thanks (0) Thanks(0)   Quote ShellandBella Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 6:55pm
Kellz, there are a multitude of syndromes out there other than downs and unfortunately they don't usually get diagnosed until babies are a bit older, but usually their major characteristics are unusual facial shapes/head shapes.


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ginger View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote ginger Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 9:04pm
I knew a little girl a few years ago who I would have sworn was downs, but she wasn't. She'd been through a number of tests because she really had that clasic downs face, but no. Not downs. Which, in theory, means that it may just be a normal facial type. Do you know what I mean?

I have friends with a Downs child, and as Flissty said - if she's meeting her milestones, it would be unusual if she was Downs.
Cuinn Lachlan 23.1.09 - 22:00
Antonia Helene 4.8.11 - 09:41
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Bombshell View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Bombshell Quote  Post ReplyReply Direct Link To This Post Posted: 21 February 2008 at 10:38pm
yes but often things like williams syndrome etc can be mistaken for downs. I would think that her doctor or plunket surely would have picked up on it by now tho?

other option is possible foetal alcohol?
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CuriousG View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote CuriousG Quote  Post ReplyReply Direct Link To This Post Posted: 22 February 2008 at 7:21am
Amnio is 100% acurate so if it was negative for DS, then she won't have it.

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newmum View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote newmum Quote  Post ReplyReply Direct Link To This Post Posted: 22 February 2008 at 8:05am
Originally posted by Bombshell Bombshell wrote:

yes but often things like williams syndrome etc can be mistaken for downs. I would think that her doctor or plunket surely would have picked up on it by now tho?


I wouldn't count on it! A friend of my mum's has a son with downs and it didn't get picked up until he was over a year old The mum was in total denial I think which probably didn't help, and she has never spoken to my mum again as it was my mum that kept suggesting to her to get it checked out etc...

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Jay_R View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Jay_R Quote  Post ReplyReply Direct Link To This Post Posted: 22 February 2008 at 10:27am
I can't for the life of me remember where it was, maybe another forum that I dropped in to once, but there was a young woman who had a little girl who was not diagnosed with Downs until she was about 10 months old. To look at her, she looked *slightly* like a Downs child, but was meeting all the developmental milestones and it wasn't until they discovered a heart issue that she was diagnosed.
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BaAsKa View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote BaAsKa Quote  Post ReplyReply Direct Link To This Post Posted: 22 February 2008 at 12:14pm
i hope this doesnt sound rude but it could just be her facial type because her father is a maori (right?) im refering to the flat nose etc
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