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Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Question an 20 week anomaly scan

6 replies

pen2bk · 05/03/2013 09:50

Hi,
This is my first post and I hope I am posting this in the right place. If not, could you direct me to the right forum please.
I am 40, pregnant with my first child. ad my 20 week scan yesterday. 2 things were noted CPC (Brain cyst) and echogenic focus in the left ventricle (brown spot in the heart). My nuchal scan at 12 weeks was fine and the odds for down syndrme were 1:2200.
I had an amnio there and then yesterday, waiting for the results at the moment, time does not pass quickly enough and I am making myself sick worrying. My question is has any of you had BOTH of these soft markers at 20 weeks? What was the outcome? Child with DS or not?
My question is specifically on both these markers being present at the same time. I read plenty of posts of a baby having one or the other, but I wonder wat happens if they have them both.
Thanks a lot for reading my post and looking forward to receiving some replies.
pen2bk

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Are your children’s vaccines up to date?
MammaCici · 05/03/2013 10:23

I'm sorry this is happening to you. I don't have any experience with this specifically but if I was you I would try to get more info from your doctor / health professional. Is there a counsellor attached to your hospital that can offer guidance? Be wary of stuff you read on the internet because it is often the worst case scenario. I hope things work out for you and your baby. I had an amnio with DS1 and the results were back quicker than expected. I hope you don't have to wait too long for a definitive answer.

pen2bk · 05/03/2013 15:35

MammaCici, thanks for your kind words. The waiting game is especially tough for someone who has no patience at all. So, there are no other replies. Does that mean my case is very unique?
Please write...

OP posts:
pen2bk · 09/03/2013 16:20

Hi,
Although there are no replies, I decided to write again in case somebody in a similar situation to myself searches this forum for help. We had the quick preliminary amnio results which were all clear for Trismony 13, 18, 21 (Downs). We need to wait for longer for a full report.
My deduction from this is if you have more than one soft markers in the ultrasound but your blood results are not bad, all may be ok. Don't torture yourself with stress like I did.
Kind Regards,
pen2bk

OP posts:
thethreeblondies · 09/03/2013 16:35

Glad u had good news, there is a section with threads regarding antenatal tests/choices, you would probably have got more responses over there (sorry I didn't see this to point u in that direction earlier!) X

Quilty · 09/03/2013 20:18

Hi glad the test results were all ok.

Just for information for anyone interested, the term soft marker is now out dated and we now refer to them as normal variants. Unless one of these normal variants is detected alongside one or more actual abnormalities then it is not acted upon. They used to be associated with the trisomies (eg DS) but it is now thought that there is only an association where an abnormality (eg heart defect) is present.
It seems your hospital are still using out dated guidelines.

More info:

fetalanomaly.screening.nhs.uk/fetalanomalyresource/whats-in-the-hexagons1/about-the-scan/normal-variant-screening

Guntie · 10/03/2013 12:33

Pen Thank you for updating and sharing. Congratulations on the results. I hope you can relax now and enjoy this special time.

Thanks
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