Genetics appointment-what happens?

[AliceHurled]

I have been referred for a genetics appointment as they think my baby might have a genetic condition, a bad one.

Can anyone tell me a bit about what happens as I don't know what to expect at all. Do they just talk? Or do tests? Or what really? I went to my last appointment pretty naively and it was awful so would rather have a bit of an idea for this one. This is my first genetics appointment, the other was with another type of specialist.

hi I had a genetics appointment following a termination for medical reasons. It concentrated on what the problem had been with the baby and the likelihood of it happening again they also discussed the results of tests on me and my husband as we had some chromosonal abnormalities ourselves. I imagine if you are still pregnant they woudl want to talk to you about what the genetic result means for the baby's quality of life and prepare you for the future.

Sorry not to be more help. We didn't ever have an antenatal genetics talk. I suppose you could go with a few questions as you are going to be talking to a genetics expert. I hope you are ok, the waiting is very hard. x

Thanks manitz. Yes I am still pregnant, that's not clear from my post. I'm surviving. Just don't want to be knocked of course by something I'm not expecting again. Sorry to hear about your experiences. But thanks very much for sharing.

They've not done any tests yet. I guess they intend to.

so what makes them think there is a problem? is it a scan? it sounds different to the way i was treated, just sent me for cvs asap. have they told you what they think may be wrong with the baby? if so you could google it then prepare any questions you may have. you might not get a chance to ask a geneticist again. Unique website is interesting.

Yes scan stuff. They have told me their guess, but they don't know and are unlikely to. It's a rather unusual case. I've been googling but there's not much out there, will have a look at that website though, thanks.

unique deals with chromosonal abnormalities. you type in the chromosone and the part which is affected and it gives you info. it's like a dbase. dh has a balanced translocation which doesn't really affect anything but even that was there. if you're isn't chromosone related then it prob wont help. If you are really going in blind then I suppose the first question is whether you can email if further quesitons come up? My baby had a hypoplastic right heart and they gave me their telephone numbers if i had further questions. it was very useful as you are bound to not remember everything during the meeting.

Ah thanks. Yes I don't know that information, and probably won't. Sorry to be a bit cagey, just don't want to put too much identifiable info out there. Thanks for suggestions. Much appreciated.

My second baby had multiple fatal ptergia... I could hardly find anything on it at the time and it was only diagnosed in a post mortem. Scans and tests showed something was very wrong and causing his joints to fuse and hydrops, and it was clear at around 21 weeks that he wouldn't survive. So our genetics meeting was more about focussing on recurrence which in our case was 1 in 4. It was a good meeting and helped us understand why it happened and what kind of tests we could do early next time if we had another baby.

In your case I would be asking about life expectancy, what further tests and checks would be done for the remainder of the pregnancy, how the condition occurs, how many cases are there, if you further children what are the chances of it happening again and what kind of care and tests could you receive next time to determine if it had happened again.

I hope it all works out well for you. It's an awful time when you are told news like this... good luck x

Just re-read your post... as far as I know genetics appointments are about talking and recommending a way forward. I don't think they do invasive tests there and then.... may be wrng

Thanks chooster that's helpful. Sorry to hear about your baby. Hopefully they'll have enough experience for it to feel a bit positive and not send me into tailspin.

hi alice, totally understand and wasn't fishing just trying to cover all bases. good luck. x

I know you weren't manitz. thanks for your support.

Just wanted to update that it was fine. A chat about the condition they are wondering about, some tests for my partner and I. They didn't upset me unduly, and are not pushing for any more tests.

Glad all well so far. Hope all goes as smoothly as possible from here. x