Genetic Testing

[ANiceBigCupOfTea]

I'm just hoping for some experiences and advice from anyone who's been here or in a similar position.

DH and I are currently undergoing genetic testing, specifically for isochromosomes to see if one of us is a carrier.
My DS was born sleeping in June 2020. He had Trisomy 13 and I've had two miscarriages since. No living children.
If we are positive, it may mean that we need to consider IVF if that's a possibility for us. I was only referred to a genetic counsellor after my second mc and only now have we been made aware that we could be carriers.
Just hoping for any advice, experience or stories if you've been here as it's all very new territory for me. Thank you.

Hi @ANiceBigCupOfTea

It's not quite the same, but we had chromosome testing after 4 miscarriages and have found out my husband has a "Balanced Translocation" which basically gives us a 50:50 chance with any pregnancy. We have a 2 year old so know we can have a successful pregnancy, it basically just comes down to luck.

We could have IVF to make sure any transferred embryos are good ones, but aren't entitled to any on the NHS and don't have 10k lying around.

Appreciate it's not the same but thought I'd reach out as it's sort of similar x

Thanks so much for your reply @Griffles
Was a it a long wait between testing and results for you?
I saw a gynecologist for recurrent mc tests before genetics and I actually did have a vitamin D deficiency too so that could have been the reason for the mcs, we just don't know til the karyotype comes back.
As we don't have any living children we are hopeful we might have IVF options if it does come to it.

Hi @ANiceBigCupOfTea

Me and my partner are impatiently waiting for our karyotyping results after 4 miscarriages in 12 months.

Did you get any clarification from your test?

Heya. I lost my first daughter to suspected genetic issue (husband has traits but is ok) so they gave us a 50/50 chance of it happening again. We had all the genetic testing they could offer but they never found the gene causing the problem - then ran out of DNA from my daughter. Minefield! So IVF wasn't an option. I've gone on to have two further daughters over the last 4 years who appear unaffected - replied on in-depth scans in fetal medicine. Pregnancies were horrendous with worry! There is a genetic carriers group on Facebook which is very helpful. Mainly Americans but lots who have had IVF due to genetic conditions (think the group is called genetic carriers - pregnancies) xx