Pre-implantation Genetic Diagnosis / Inherited Genetic Conditions

[Miserablemouse]

Hi all,

Not sure if this is the right place to post but wanted to see if anyone has been in a similar position and might be able to help. I have a balanced translocation that can result in partial Edward's Syndrome (T18) - this is different from mosaic Edward's in that it will affect all the embryo's cells but there won't be a complete third copy of chromosome 18 as in full Edward's. It would be 2 full chromosomes and a partial third one (about two thirds of it I think), along with a partial monosomy (one copy of a chromosome as opposed to two) of the other involved chromosome.
The chances for each of my eggs are
25% healthy normal
25% healthy carrier (like me)
25% partial Edward's (likely to be fatal antenatally or shortly after birth although some babies do live longer)
25% a monosomy/trisomy combination involving chromosome 18 and the other involved chromosome which will almost certainly be lethal and a pregnancy unlikely to continue beyond a few weeks.

We are TTC at the minute and have been for a year now. I saw a genetic counsellor about 18 months ago to discuss our options but it didn't really feel real at the time.

Our options are:

• Continue TTC and have no testing if I get pregnant
  
• Continue TTC and then pay for private non-invasive testing if I get pregnant
  
• Continue TTC and have CVS or amnio if I get pregnant (with miscarriage risk for each)
  
• Do IVF with pre-implantation genetic diagnosis (PGD)
  
  When we first spoke to the genetics team IVF with PGD wasn't even on my radar because I hoped we would conceive easily and was prepared to accept the risk of conceiving a baby with Edward's. We think we would terminate for medical reasons if that were the case, which I hope doesn't upset anyone who has had an Edward's diagnosis and chosen to continue the pregnancy - we all do what is right for us and I take my hat off to anyone who has fought for good care for their babies after a diagnosis like this . My mum had a stillborn baby who had Edward's (which is how we know about the inherited translocation) and this has definitely influenced our thinking/decisions.
  
  We are now considering the PGD as more of an option given that we haven't yet conceived... I know that a year TTC isn't that long in the grand scheme of things, and that if we didn't have this genetic issue to deal with IVF would be a long, long way in the future, if it was even necessary or appropriate.
  However, my husband and I are now finding ourselves slightly more drawn to the PGD route because we would know for sure if I got pregnant from a PGD IVF cycle that the baby definitely didn't have Edward's which would mean:
  
• Less anxiety in a pregnancy as we wouldn't be worrying about the baby being unwell
  
• No additional miscarriage risk from invasive testing
  
  We are also young-ish and the chances of successful IVF would be better if we do it now rather than in another few years. However it feels like such an invasive, long, heart wrenching process that has no guarantee of success, and I am wondering whether it is worth it at this stage.
  
  I was wondering whether anyone has been through something similar and if so, what decision you made? Has anyone been through IVF with PGD recently or doing it now?
  
  Thanks in advance to anyone who can share. xx

[Chocca]

Hi
I am doing PGD just now - my DH has a BT and we have had several miscarriages and a TFMR. There is so much to think about, it was quite an easy decision for me though as I get pregnant easily and can't keep on having MCs or worse, getting to the point of CVS and having to terminate again, which was by far the worst thing I have been through.

As you say, there are no guarantees of success with IVF - in fact the take home baby rate for couples with a BT is almost the same for IVF as for trying naturally so it all comes down to what you personally can deal with. For me, the idea of IVF is much preferable to what I have been through already.

I really recommend that you join the Facebook Group Balanced Translocation Support - it is really supportive and full of so much knowledge. Everyone there is in the same boat and making the same decisions.

If you are in the UK you should be entitled to PGD on the NHS, so you might want to get referred for that ASAP anyway as it takes a long time to get started. You can always keep trying naturally while you wait and see what happens.

Good luck with your decision making, there is no easy way through this!
x

[Miserablemouse]

Hi Chocca, thank you so much for replying and sorry to hear that you’ve had such a terrible time so far. I can’t begin to imagine how awful the TFMR must have been . Will keep my fingers crossed for you.

I have a GP appointment at the end of the month so might try and kick things off as like you say the referrals take so long anyway that we can keep trying in the meantime. Do you mind me asking if you had to travel to London for the PGD and roughly how long the referrals process took?

I think I had always just assumed it would be fine, but at the moment I’m just not getting pregnant, and I think about the hurt and trauma that you’ve gone through and wonder if maybe it’s almost a good thing that I haven’t been because we’d likely have to go through similar.

I will definitely check out the Facebook group, thank you. I feel so privileged to know about this in advance as we have had years to discuss what might happen before we started trying, and so many other people aren’t so lucky (I imagine maybe you found out after you’d had several miscarriages? It must have been awful to deal with, I’m so sorry) but it all still feels bloody unfair too.

Xx

[Chocca]

You're right, it is completely unfair. You're lucky you know about it so you can make decisions while you're young - we would have done things completely differently if we'd known. But in a way, I'm glad we didn't know, I think I would have spent the last 10 years obsessing about it! Sorry if my post sounded all doom and gloom, there are so many success stories in the FB group, and the likelihood is that you will be able to have children whether that's by IVF or naturally.

We're in the north so not doing it in London. I think there are a few places that do it now, although Guys is meant to be the best if London is easy for you. Time wise, we were referred to a geneticist first (after tests on a pregnancy showed the translocation) then from there to the IVF clinic. That took a few months, then we were on the waiting list for another 8 months to get started. So there are a few steps to go through, hopefully your GP will be helpful and refer you straight away.

You could also consider asking your GP about other tests in case there is some other reason you're not getting pregnant. I got referred to the recurrent miscarriage clinic as well as the genetics dept to make sure there was nothing else involved. I thought it would be hard to get seen but the medics were all happy to check and not just assume that all our issues were with the BT.
x

[Miserablemouse]

Haha yes, I do feel lucky to know but the obsession is definitely there! I had testing done when I was 9 so I've grown up knowing about it which is quite unusual, but it does eat away at you.

We're North West but I think our GC said we'd have to go to London for PGD so maybe that's just where they refer to. The last appointment is a bit of a blur to be honest so I think the sooner we can get back in to speak to her the better.

Thank you for being so kind and informative with your replies and best of luck for your PGD journey xx