CVS vs Amnio - need advice!

[Plateofcrumbs]

Had 12 week scan today, which resulted in a 1 in 98 risk of Downs and an unquantified risk of Digeorge Syndrome (they apparently don't have sufficient data to give a 1 in X risk for this particular abnormality).

I'm at Kings College Hospital in London which is currently offering Harmony testing - which I have taken up. However Harmony doesn't provide a result for Digeorge Syndrome. Because of this and the greater than 1 in 100 chance of Downs they offered a CVS which I agreed to.

Unfortunately the consultant present was unable to carry out the CVS test as I have ovarian cysts which are in the way. It was suggested that I could come back next week when the Professor (Krypos Nicolaides - THE expert!) would be able to give it a try. Or I can wait for another 3 weeks an get an Amnio. Or I guess neither and take my chances with Digeorge Syndrome.

I'm really not sure what to do here.

No advice, just sympathy, and reassurance (not that you needed it) that you are in the best place possible with the best possible care. Whatever happens, you know you could not have gone anywhere better in the world for your situation.

It will be a tough decision especially as the risk for Digeorge is not quantified. Was it markers on ultrasound? From a brief look online it seems like it is one of those syndromes that can have little effect or an horrific effect, and of course you're unlikely to know which end of the scale it would be.

If I was in your situation, AND it was the professor doing the amnio (I'd be a little wary of the CVS because of the cysts) I think I would probably do the amnio. I trust the professor. If it was anyone else, I would not - I waited it out for a 1 in 34 for T21 a few years ago pre-Harmony even though I could have had the professor - 1 in 34 was just not high enough for me to do second trimester invasive testing given we wouldn't terminate for T21.

That's just my personal feelings though - people have such different approaches. A lot depends on whether you would terminate too.

When I (DH stayed out of it!) made the decision to not do invasive testing at that stage, I basically considered each option as if I had truly committed to it for a day and see how it left me feeling. Ultimately I felt so sick and anxious about a possible CVS (the what-ifs) that the waiting it out felt like the right option for me. Most other people choose differently, I'm quite unusual in waiting it out with such a "high" screen. But I can highly recommend this method for helping you decide.

Good luck with your decision!

Thanks Crispy.

Digeorge is a risk due to markers on ultrasound, yes Although they couldn't quantify they were not making it sound like a probability, but they were definitely steering me towards the CVS / amino route to rule this out. Personally I'm happy to take the risk with either, generally speaking. But the fact my CVS would not be at all straightforward, if indeed it would be possible at all, is giving me a lot of pause for thought.

Hi plateofcrumbs, it's always a hard decision. But if any reassurance, I had an amnio yesterday evening in UCHL and it was very straightforward, considering they were experts and do this day in day out. They had said if they see any reason why they can't do it from the scan beforehand they wouldn't proceed, but all was fine. I know a lady who had Dr Nic do her amnio and she could not have spoken highly enough about him. Obviously there is a risk, but I left feeling what you read and are told about these are worse than the procedure itself. I was 15+3 and just have to wait for results now. It's not really painful, just a tingle, probably less painful than bloodtests. Good luck.

I had a cvs with the good prof, he is the best (and a very lovely person) I would go with his judgement, if he judges that it is ok I would go with the cvs ( we had a (1:2 downs and 1:36 Edwards for our daughter, I had to know, downs is fine, Edwards is not and I have lost a previous son to it)
It depends on how fast you want an answer and how long you need to make plans
Please have a virtual hand to hold, I hope it all goes well

Thank you mummyirl - after a conversation with KCH this morning have decided to go back in and try the CVS. At least I know I'm in the best possible hands.