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Amnio vs cardiac scan?

(2 Posts)
firstpost2018 Tue 11-Sep-18 20:00:19

Hi,

I would love to know if anyone else has been in our position, as I just don't know what to do...

We had a nuchal fold measurement of 3.8mm at our 12 week scan.

Since then we've had the results of the reflexDNA test back as screen negative, with the results saying we have a less than 1 in 50,000 risk of having a baby with downs, edwards or pattau's. We got very excited after this as we felt that everything must be ok.

But since then I've been booked in for a cardiac scan to check for any other issues that might be related to the higher than usual nuchal fold measurement, and theres also been some discussion about the possible need for an amniocentesis after that, depending on the results of the cardiac scan.

To me, this all just feels like postponing the eventual need to have an amnio, and so I've booked in to have one before the cardiac scan - but do I need to?

I think all the information we've been given is stressing us out, and Im just not sure whether to wait for the cardiac scan next week, or to push ahead with the amnio this week.

Has anyone ever been in the same boat?

OP’s posts: |
CyclingFanGirl Thu 13-Sep-18 11:22:53

Hi firstpost2018

Congratulations on your pregnancy and I'm sorry that you are in a position where you are having to make these decisions.

9 months ago we were in exactly the same position as you, slightly raised NT on 12 week scan and offered both an amnio and a cardiac scan. We took both, the amnio at 16 weeks (with another detailed scan at the same time) and the cardiac scan at 20 weeks. We didn't have the non-invasive screening as it isn't available on the NHS here and we knew that we would want an amnio anyway. All turned out well and 10 week old baby is currently snoozing in the rocker in front of me.

For background, we had a termination for a fatal heart defect diagnosed out of the blue on the 20 week scan in May 2017, the post-mortem showed that a portion of chromosome 11 was missing, this would have been picked up by an amniocentesis, but not by non-invasive testing. This sort of thing is exceptionally rare.

What I'm trying to say is that, although there is an overlap between the 2, it is possible to have a heart defect without a genetic problem (or with a genetic problem that is too small to find on the amniocentesis) and similarly, it is possible to have serious genetic problems that may not be visible on a scan until late in the pregnancy (although I think that this is rare).

I would highly recommend speaking to ARC www.arc-uk.org/ who are really great, non judgmental and really know their stuff.

Good luck and I hope that everything works out well for you all.
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