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Down's Syndrome

(6 Posts)
MissTwister Wed 04-Nov-15 11:35:49

When pregnant I had the harmony test for Down's syndrome and was told risk was 1 in 10,000. My baby was born and all was fine. At 4 months now she is developing normally

However the HV asked me to visit the doctor as her tongue sticks out a lot and she has a flatish nasal bridge with a squint (according to antenatal scan she does have nasal bone). The doctor has referred me on to a paediatrician citing tongue protrusion and some possible eye markers/ flattish nasal bone but said it was unlikely but we need to check

I'm so thrown - does anyone have any advice?

Runningtokeepstill Wed 04-Nov-15 12:47:21

Probably not the advice you want. Wait and see what the paediatrician says. Be prepared that they may not be able to give a definitive answer. You can torment yourself looking at different possibilities. No-one here can say if your daughter has a condition (not necessarily Down syndrome. If someone posts with a similar situation, then whatever their outcome you won't know if the same applies to your daughter.

I do know that none of this is easy. My first child had unexplained developmental delay and was investigated for many genetic disorders and I know that waiting for appointments and test results is the pits. Continue enjoying time with your daughter and really focus on this. It helped me get through all the waiting.

MissTwister Thu 05-Nov-15 07:18:54

Thanks for the reply. I've been told it will be 6-8 weeks for appointment so just so long for me to panic....

zzzzz Thu 05-Nov-15 08:38:07

Dd2 was born with the folds over her eye corners, minimal bridge to her nose. Enough that it was obvious as she hit 1 that profs noticed. That said no one offered to refer us. She was absolutely fine.
Not sure why I'm posting but perhaps just to say some babies have features that we might associate with syndromes and don't end up having them.

backtowork2015 Sun 08-Nov-15 15:24:06

My ds has what was described as normal variant epicanthal folds round the inner corner of his eyes caused by a flattish nasal bridge. The ophthalmology guy saud it would disappear as ge got older and the bridge becomes more pronounced. No one has mentioned downs to me and he's nearly 2. Are there any of tge other markers? Almond shaped eyes, low set ears, there's a sign on the palms too isn't there? Wouldn't it ve odd to be diagnosed so late? Even if you didn't notice signs the health visitors should. You say she's developing normally which is encouraging. I hope you get sime answers soon. It must be such a difficult wait

Loftslag Sun 15-Nov-15 20:03:33

How is her overall muscle tone? Babies with DS tend to be a bit floppy and can have trouble supporting their heads when upright or lifting them when they're on their tummies. I also hope you get some answers soon - the wait must be horribly stressful.

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