20 week scan - possible down syndrome?

[sleeplessinsuburbia]

At my 20 week scan the Dr found a number of anomlalies which each individually seem ok but together point to a chromosomal abnormality. I didn't do any testing for downs earlier.

Has anyone experienced the following results:

Single umbilical artery

hydronephrotic kidney (missing a kidney also)

choroid plexus cysts

something "not right" with the heart but not sure

possible mild micronathia but only a possibility.

I am very worried about these results, it may take a couple of weeks for further testing which seems too long to wait!

Hi sleepless, how worrying for you. I don't have any knowledge myself but you could try posting on the antenatal tests & choices board, there are some similar experiences there I think.

Also you could try calling ARC which is a charity which offers advice and support in these circumstances.

What further testing are they doing - are you having an amnio?

Oh thanks, just checked it out and there's a thread similar to mine with different markers.
I'm in Australia, I'm waiting to have a tertiary scan with consultants, the triage nurse decides how long I wait.

Again, I'm sorry I can't offer any personal knowledge about your concerns but I would certainly echo what minipie said about ringing ARC. I phoned them when I was given a high risk of DS after my 12 weeks tests and found them to be remarkably helpful and well informed. The lady I spoke to was very kind, listened to me ramble for an hour and really helped me clarify my own thoughts.
I really do hope that all is well for you. Take care x

Thanks, do you have their website? Just tried google.

it's www.arc-uk.org/

They are a UK charity (I'm sure they would be happy to speak to those outside the UK but the phone bills could get expensive!) - I will see if I can find an Aus equivalent for you.

PDS Australia look similar to ARC and are Brisbane based

SAFDA also look relevant

x

Thanks so much, waiting is so scary I google all the time but noone seems to have experienced the same/as many markers. This will keep me busy for a bit!

I hope your baby was ok

Yes all fine so far - I had high risk at 12 weeks so had a CVS and results were all clear. Need to have a detailed heart scan at 20 weeks though.

Best of luck, do try not to google as you'll know much much more after your tertiary scan and better not to drive yourself crazy until then! Easier said than done I know.