Downs Syndrome
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Category: General Chat
Forum Name: General Chat
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URL: https://www.ohbaby.co.nz/forum/forum_posts.asp?TID=14677
Printed Date: 23 December 2025 at 8:35am
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Topic: Downs Syndrome
Posted By: Kellz
Subject: Downs Syndrome
Date Posted: 21 February 2008 at 3:21pm
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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 |
Replies:
Posted By: Rachael21
Date 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? |
Posted By: fire_engine
Date Posted: 21 February 2008 at 3:56pm
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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 |
Posted By: Kellz
Date Posted: 21 February 2008 at 3:58pm
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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? |
Posted By: Kellz
Date Posted: 21 February 2008 at 3:59pm
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Oh cool thanks for that Flissty.
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Posted By: ShellandBella
Date Posted: 21 February 2008 at 6:55pm
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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. ------------- http://lilypie.com"> 
http://lilypie.com"> 
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Posted By: ginger
Date Posted: 21 February 2008 at 9:04pm
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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 |
Posted By: Bombshell
Date Posted: 21 February 2008 at 10:38pm
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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? |
Posted By: CuriousG
Date Posted: 22 February 2008 at 7:21am
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Amnio is 100% acurate so if it was negative for DS, then she won't have it. ------------- http://lilypie.com"> 
http://lilypie.com"> 
|
Posted By: newmum
Date Posted: 22 February 2008 at 8:05am
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... ------------- http://lilypie.com"> 
http://lilypie.com"> 
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Bombshell wrote:Posted By: Jay_R
Date 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. |
Posted By: BaAsKa
Date 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 |