Genetic Counselling

Hi everyone

We have finally been given our appointment to go and have genetic counselling at the end of June so we have something to dread going to again 😩

Blood tests with the urologist have revealed that my OH has a chromosome 21 ring, which is a rare genetic condition he was born with apparently. Before they can try to do the surgical sperm retrieval we need to meet with a geneticist to discuss the risk of him passing on this condition and if there is even any point in proceeding😞

Has anyone else been referred for this type of counselling? I'm guessing no one else's OH has been diagnosed with this chromosome given that we've been told it's so rare but have any of you had the counselling?

Any advice gratefully received x

4 Replies

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  • Hi, I'm so sorry you're having to go through this. My partner and I have been for genetic counselling as he has a rare, life threatening heart condition called arvd. The appointment was very straightforward - we were shown how genetic mutations are passed on and we're told the chances of our children inheriting the condition were 50/50. We were then told that we could go for pgd (pre implantation genetic diagnosis) with ivf so that they could screen his sperm. Unfortunately at the time I was too old for nhs treatment. The rules have since changed but it's too late for us due to my age. There are a list of conditions that qualify for pgd on the heafa website.

    In the end we opted for a sperm donor but might consider pgd for our next try at ivf...though it is expensive.

    Anyway, I hope this makes sense and doesn't all sound too scary. Hopefully if it's what you need you will be able to get it on the nhs.

    Best of luck to you both.

    Clare x

  • Hi again. Sorry, I just wanted to correct myself. We were told there was a 50/50 chance of passing on the genetic mutation, not the condition. I guess that part is more random! X

  • Thank you so much for the advice Clare.

    I didn't know they could do that sort of screening now so I'll definitely ask about it. I think I'm going to write down all my questions so that I don't forget anything x

  • You're welcome. I think some of what I said was a bit of a confused babble..sorry! It's not the sperm they test for genetic mutations but the embryo once it is created - I think. I'm not sure if they can test the sperm prior to implantation...I know they can check for the quality but I'm not sure about genetic make up.

    Anyway, good idea to get all your questions down beforehand. I really hope it all goes well for you x

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