Balanced Robertsonian Translocation / PGT

[Kappi]

Hi all,

I’ve been on these threads for a while - 3 miscarriages, 0 children.

I have been through all the tests - seen many specialists, have been fortunate and received wonderful care throughout. However, I haven’t found a board for those of us with balanced translocations - which I have.

I have a Robertsonian balanced translocation I’ve got- 13:14 which means creating embryos that are viable is a struggle!

we have started Ivf with Pgt testing - only the first round failed - as we never got enough embryos to the testing stage.

I thought I’d document how I get on, in the hope that it gives anyone else out there in the BT boat that they’re not alone.

sending love and comfort to anyone that reads this! It’s a lovely place but we aren’t on our own

x

@Timetotryagain yes it was cooper genetics! Took just about two weeks to get the result. I did have to follow up twice though with my clinic and they emailed me the report. I’m sure they’ll come back to you soon. You might have to chase them though.

@JJ1121 i was going to call on Monday as i wondered whether the two Easter bank holidays would delay things a bit! Everytime my phone rings my heart jumps incase its the clinic

Hi all, mind if I join? My DH and I are starting the journey of PGT for a chromosomal translocation.

We are in a slightly different position than most of you - rather than learn about the chromosomal translocation after recurrent miscarriages, we've always known about it. My DH's parents had a pregnancy prior to their pregnancy with him which sadly resulted in a TFMR at around 22 weeks after very serious abnormalities were spotted on a scan which would not have been compatible with life. Testing of the fetus revealed the unbalanced translocation, and this was eventually found to have come from my FIL, who carries the balanced translocation - it appears to have appeared de novo in him. My in laws were advised to simply try and conceive again, and this resulted in my DH, who has the balanced translocation. They didn't try to have any children after DH, I think they felt they were very lucky to have him and didn't want to face having to TFMR again.

We are newly married and starting to think about TTC, so we have obtained a referral to a geneticist and had our first few appointments. We are awaiting more detailed information about exactly what this specific translocation entails, but we are almost certainly going to go down the IVF and PGT route. I don't think I have the emotional strength to go ahead and TTC, knowing that the pregnancy may have to be terminated. That is assuming that I would even fall pregnant or wouldn't miscarry in any event - the more I'm learning about translocations, the more I'm realising that a lot of affected pregnancies simply end in miscarriage at an early stage. It sounds like this has been the case for a lot of you, I'm so sorry.

I feel sadness about not being able to have the 'normal' conception journey, and IVF feels very daunting. I am worried about the emotional and physical toll it will take on me, and the pressure it will put on me and DH. At the same time, I recognise we are very lucky to have this information now so we can be proactive and start sooner rather than later, rather than having to suffer through unsuccessful pregnancies.

For those who are already part way through the process, is there anything you wished you had known before you started?

@Timetotryagain yes I had mine back on Tuesday this week, it was a monosomy - so not my translocation,

Gna rest, have my consult and go again for round 2. Hopefully the clinic can advise if any changes are needed x

Hi! You’re so welcome to join! I started the thread hoping it could be a spot where anyone who needed it could feel connected to others! X

I’ve just finished my first round, sadly it wasn’t successful as our testing showed another abnormality- so, not my translocation.

It’s tough but what I have learned, for me personally- is where I have trusted people in my life, I’ve drawn on their support. My first 2 miscarriages I kept very quiet and processed them privately and only shared with my close friends after the fact.

it’s a tough process that takes it’s toll on you both- but I try to remember, Ivf with pgt is successful for lots of people - and whilst I’m in it, I try to walk towards that goal with hope.

and - I ask the doctors lots of questions! And try to learn as much as I can about what’s happening from the experts in the field x

@CrackerBarrelBiscuits welcome to the group 💜 theres quite a few of us then in the same position! I thought there would be nobody on mumsnet with a BT.

Thats good that he has always known but still sucks to be in this position 💜 i was actually fairly surprised by how well i coped with the ive meds i didnt seem to have too many side effects apart from a bit of bloating so hopefully it will be the same for you

@Kappi sorry that it came back as abnormal:( have the clinic said they will change your stim dose for next time?

Still no results for me yet, they were supposedly sent on monday 7th april ao nearly 3 weeks now

Just got the call that out of our 6, 1 little embryo is normal and suitable for transfer 🙏🙏🙏🙏🙏 really hoping it does well

@Timetotryagain thats excellent news!! Sending you positive vibes. 🙏

@Kappi I think we connected on another thread. I’m really sorry to hear of the outcome. My first round of IVF didn’t work out either and it was devastating. I hope you take some time to heal. I’m day 7 of stims for round 2 and trying to stay positive.

@CrackerBarrelBiscuits it sounds like you’re going about everything the right way! I was very fearful about doing IVF but the injections / procedures are really not too bad its really more the emotional side I find difficult to cope with. But I’m also grateful I live in a time and place where these resources are available. I’m sure you will be ok ❤️

@JJ1121 thank you, getting stressed about the FET but praying and hoping it works. Out of the 5 that were abnormal - 4 of the embryos had the unbalanced translocation and then one was a random chromosomal error

Have you had any scans yet, if so how are your follicles doing?

@Timetotryagain euploids have a very good chance of live birth! I think it’s like 70% or something.

Day 8 of stims today, 6 follicles on each side so feeling good 😊

Hi! Yes we did that was another one I started about recurrent miscarriages- that was before I knew if my translocation 🙂 I’ve found mumsnet a great help!

all the love and best wishes your way - round 2 is hopefully on the cards for us soon as well - just waiting for my consult with our clinic. Hopefully not too much longer!

@Timetotryagain how are you doing? Plans to transfer yet?

@JJ1121 in 6 weeks hopefully, i am doing a natural FET and my clinic makes you wait for 2 periods after the egg retireval before you can start so due my period soon then wait for another and then can start juneish i think! How about you?

@Timetotryagain Great to hear it’s coming soon. Sending you positive vibes. Similar to you, had six blastocysts recently sent off for testing. Feeling a bit nervous because it is almost half the number from last time but hoping they will be better quality!

@JJ1121 fingers crossed you get some positive news soon!!! How many eggs did they collect?

I think my wait time was 20 days but it was over the easter bank holidays so hopefully less wait for you!!

@Timetotryagain thank you!! We got 14 in total, 12 mature, 10 fertilized, 6 by day 5. Was it similar to your collection?

@JJ1121 yeah we had 11, 9 mature, and then 6 on day 5. It sort of reinforces that our fertilitt issues are mostly just the BT then!!

Hope everyone in this thread is doing ok! Wanted to update because I know I would constantly search mumsnet for these updates. We got 3 normals of the 6 sent away for testing. Which we were not expecting at all! Last collection there was only 2 normal from 11 sent away for testing. Really shows that every retrieval is different. Sending everyone positive vibes! x

@JJ1121 omg thats amazing!!!!! When is your transfer? Mine will likely be end of june :) are you doing natural or medicated?

@Timetotryagain thank you! Yes was only expecting maybe 1 so this is a nice surprise! Haven’t thought about it yet to be honest. Thinking might wait a few months. I need a bit of a break 😅. Exciting yours is end of June! Will you be doing medicated?

Hi everyone. I came to give you all some hope.
My husband has
translocation 13/14. I had 5 misscarriages, 3 chemical, 3 around 7 weeks. We were sent to ivf. First round was not successful; and
to be honest, I didn’t like it. They scared us that even my cells are bad quality and that we need to hurry with another round if we want a baby. I said no.
tried again naturally, and we got a beautiful healthy boy😊🙏🏻 Thanks to dear God.

I just
want to give you hope all, and send you the best from me!

Lovely story @kispanda thanks so much for sharing ❤️

How is everyone getting on in this thread?

@kispanda thats so lovely 💕💕 thank you for sharing its nice to see success stories!

@JJ1121 i am currently pupo at 4dp5dt! Send me all the luck 🙏🙏🙏 how are you?

@Timetotryagain ah amazing! I am definitely sending you good vibes! How are you feeling?

All good here! Planning a transfer for my next cycle in August 🙏