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Infertility

Our Infertility Support forum is a space to connect with others in the same position, discuss causes, treatment and IVF, and share infertility stories of hope and success.

Chromosome inversions

5 replies

123whatsmyusername · 01/04/2018 18:42

Hi all
I’m not too sure where to post this, but right now, infertility is this forum I most identify with. Here’s the background as not to drip feed:
DH and I were TTC for 18 months, during which time I was diagnosed with PCOS. I becaome pregnant with the most beautiful little girl although we made the most heartbreaking decision to TFMR as she was missing a significant part of chromosome 1. This would have severely affected her quality of life.
While I was pregnant, we found out that this happened because I have an inversion, which basically means the condition is genetic. Luckily the NHS will fund PGD IVF so there is a way forward (fingers crossed). Long shot but does anybody else on here have experience of a chromosomal inversion? Any natural pregnancy success stories? PGD success stories? Words of advice?

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bluemoonchances · 01/04/2018 21:24

Hi, didn't want to read and run. Not quite same as you but similar I think. My DH is carrier of a chromosome translocation which can result in severe disabilities. A fetus would be highly unlikely to result in a live birth. I've had 4 MC due to this ( plus 2 ectopics but I'm putting those down to my daft organs!)
We are having ICSI later this year with genetic testing so fingers crossed.

Good luck to you, they can do amazing things now with genetic testing I keep telling myself!! Grin

iamloading · 01/04/2018 21:50

No experience I'm afraid but I was wondering if you could answer a question for me? I also had to TFMR last year with my little girl for a condition that is commonly due to chromosomal translocations. (Also after infertility and PCOS treatment) However they have said in our case that it wasn't genetic, but they never tested us. Could they tell from your daughter and then did they test you, or did they test you as standard? The care hasn't been great for us and I'm now 18 weeks and terrified of it happening again (can only see at 20 week scan.) Sorry for derailing your thread, and that you have had to suffer this pain too x

123whatsmyusername · 02/04/2018 10:18

Hi Blue thank you for replying. I’ve read much about translocations - sorry for your losses. You’re right that it’s unbelievable what can be done with genetic testing these days. Good luck for your ICSI!
Iamloading are you in the UK? At the 12 week scan the NT measurement was high so we decided to have the CVS test, during which they tested mine and DH’s blood. I can only assume they found our girl’s deletion in the CVS test then tested our blood to find that I have an inversion. I’m sorry that you’ve not had appropriate care especially after your loss. Being pregnant can be the most joyous yet terrifying time. I wish you all the best of luck.

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iamloading · 02/04/2018 10:24

Thank you @123whatsmyusername Yes I am in the UK. Unfortunately my daughters condition could only be detected at the 20 week scan, so after being referred for an mri we ended up having to TFMR at 26 which was horrific. We had a full post mortem, but they never tested us which worries me but maybe they didn't need to and I'm being paranoid.
I hope that your ivf works and we all get the miracle we deserve x

123whatsmyusername · 02/04/2018 15:04

Ah I think I spoke to you on another thread a couple of weeks ago. If they didn’t test you then I can only assume they didn’t need to. I really hope it’s good news at your 20 week scan. X

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