Genetic tests - just had confusing and worrying call from our fertility consultant following tests

[jumpingjackhash]

Hi there, wondering if anyone can help with experience or reassurance.

Following 2 rounds of icsi i got bfps then miscarried in the first trimester. Having pushed for immunology/antibody tests and genetic tests to rule out any major issues or get a steer on the situation, our consultant has just called to let me know he's referring me to a genetics specialist as apparently 8% of my ('cells'???) have either a missing or extra x chromosome.

He mentioned Turner Syndrome but said this is unlikely and he also mentioned Mosaic (??). He said the geneticist will help to determine the extent of the problem but essentially it's not fixable in terms of increasing the chances of our ivf being successful/me not continuing to miscarry. He did mention tests that could potentially be done on our embryos (we have 2 frozen) to see ifnthey carry enough x chromosomes.

Sorry if this is garbled, until we get to see the geneticist I'm a bit confused but in an awful panic. Anyone been in a similar situation or know anything useful about this?

Keeping in mind that strangers on the Internet can easily get it wrong, but from what you've described it sounds like...

Mosaic means a partial chromosome defect, in you yourself. One that doesn't affect you as a whole person but affects just some of your cells (and your eggs).

It means that you have a high risk of passing on a missing or duff X-chromosome. I suppose the good news is that you also have a chance of passing on good X-chromosomes, but this is where the detailed consult comes in, to tell you how high are the chances. What you might have to endure in order to get even one healthy baby.

It's not your fault, this condition, it's pure bad luck. It's not fair. :(

So sorry you are going thru this.

Thanks for helping me to make some sense of this. It just feels so unfair given we're already struggling to have a baby due to DH's infertility already. I guess until we see the geneticist we just don't know the full situation but i'm really worried after the consultant's call.

Am i right in thinking that in testing the embryos we have in the freezer will only help us to work out if they will stick (as in if they have enough x chromosomes)? In that if they don't then it's pointless transferring them? If so, won't any future embies be in a similar situation?

That sounds about right. Testing the embryos could be wisest, I think would save some stress. However, even if embies have complete X chromosomes there's still a chance of miscarriage, and other problems that could happen (more bad luck). The whole thing is a crapshoot at best of times.

Especially unfair for you, though. :( :(

Don't give up hope. There's a lot about this situation you don't know yet.

Did you get an estimate of how soon you might see geneticist?

Not yet, I'd guess we'll be waiting for around 6 weeks (seems the usual waiting time at our hospital for this kind of thing).

Thanks for your reassurance and hope!

I'm glad my measly words have helped you feel like you understand a bit better what you are dealing with. It's complicated, and unusual. Probably lots more to understand. Special in a way, but not in a way you exactly wanted. (ironic smiley)