20 week scan heart defect and digeorges syndrome wait

[stanley10]

This is my first post on mumsnet- I’ve been a lurker up to now.

I’m 22 weeks and 3 days pregnant and have had repeated 20 week scans (they said because the baby was in an awkward position). We pressed for a third and yesterday had it with a consultant who found a possible heart defect.

We’ve seen a specialist today at Kings today (thankfully we didn’t wait long) and have been diagnosed with double aortic arch. I think this is a good result compared with what it could be.

What is really worrying me is the association with di georges syndrome - she said about 10% of babies with this have it. I’m having an amniocentesis this afternoon as we want to find out, but we will have to wait about 10 days or more for the results.

I’m going mad googling and will find it so hard to wait without knowing, and Im finding it really hard to start thinking about what we will do if the baby does have it.

Has anyone been in a similar situation? Does anyone have any advice?

Thanks so much

That does sound like hard news to hear and deal with, I'm sorry .

No advice I'm afraid but bumping for you in the hope that someone does xx

Hi
We had a diagnosis of right aortic arch at the 20 week scan and then were referred to cardiology and fetal medicine. The RAA was confirmed and we had a detailed scan which found no other anomalies. We declined the amino as our consultant explained that diGeorges is on a spectrum and there are people who have it who literally don’t know they do to those who are quite severely affected by it. You would not be able to tell to what degree an individual would be affected until they grew up. As we wouldn’t have chosen to terminate we declined it with the consultants full support. We were also told that if the heart defect is in isolation then it’s unlikely to be diGeorges. We have never had our daughter tested but she looks just like her siblings, is ahead of her milestones and has no evidence of it. Also just to add the RAA hasn’t caused any problem either and has been classed as a variation of normal. Hope that helps a bit, I remember it like yesterday, so horribly stressful. Thinking of you

Thank you very much peacefullythoughtful- that makes me feel a lot better.

There is a RAA group on netmums ( not sure if I am allowed to mention that on here !) RAA is linked to diGeorges- it’s the only forum I could find at all on the internet. Very very few people actually had a diGeorges diagnosis. Did they talk to you at all about soft markers? If I can put your mind further at ease do pm me .

Thank you, I’ve sent you a pm. I think RAA and DAA are different according to google, but it’s very hard to find out different risk levels etc

@stanley
Sorry to hear this. All I can offer is that I too had amino several years ago (high risk for Downs) and the wait, which turned into 3 weeks for me, was hard. I got through it by being very prosaic. i was very matter of fact about the possible outcome and was able to talk about it calmly with others. Howeve, when I eventually got the (negative) result, I absolutely crumbled. Talking about it with close friends afterwards, everyone said they thought I was very brave and made of strong stuff whilst waiting for the result, but I just did whatever I could to keep sane.
It's a horrendous situation to be in, you just want time to fly until you get the result. You will find your way through this. 🌺

This is a very difficult place to be for you. The 10% chance that the DAA is associated with Di George does of course mean a 90% that it is not. This can be a helpful way to reframe the thought, but in reality you are trying to balance optimism with daring to think about the "what if". That is very hard indeed.
Have you been put in contact with a specialist midwife for support and further discussion?
That is the work I do, so if you want to PM me to ask anything or to discuss privately please do.