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

Good luck for august!! Well i just got a faint line at 5dp5dt so i hope this is it for us!!!

@Timetotryagain ah so exciting!! Wishing you success!

@JJ1121 thank you! I will keep you updated. Always a worrying time even after you get a positive 😭

Are you doing natural or medicated? I did a natural cycle

@Timetotryagain yes I know the feeling. But sounds like with all the testing and knowledge you have up to this point, this will be a positive outcome ❤️. I think mine will be natural as well because my cycle is always 28/29 days. But will likely be on progesterone injections. Did you have any supplemental medicine?

@JJ1121 at 3dpo i started progesterone suppositories. Do you have the option of those vs the injections?

@Timetotryagain not sure, I need to double check. How are you doing?

@JJ1121 yeah i am good, i am 4+4 weeks now and i have a scan with the clinic booked for a few weeks. Still nervous though obviously! Are you just waiting for your period now to start the cycle?

@Timetotryagain exciting!! Good luck with the scan I am sure all will be well. Out of curiosity, did you do PGT and PGSR testing? Yes just waiting for next cycle to start!

@JJ1121 yeah both pgt a and pgt sr (one of my abnormal ones was one that was a random error so i am glad they did the pgt a too)

How about you?

Hi,
just thought I’d jump on this thread. I have a translocation with chromosomes 13 and 14. Was told when I was a teenager to go back to genetic consultant if I ever wanted to have my own family. Now in my late twenties and pregnant with my first. Feel so lucky.
I’m 8 weeks had my first midwife appointment then a private scan yesterday.
I was phoned today by booking team and I now have an appointment with the consultant at 12 weeks, I thought it was mostly midwife led so I presume he wants to go over everything. Anyone had the same?

@ka25 is it a natural pregnancy? I imagine they will be referring you to fetal medicine for extra checks etc if they know about your translocation. Congratulations 💕💕

Thank you! Congratulations on your pregnancy as well I found out when I was 4+6.
Yes it’s a natural pregnancy. Yeah makes sense for extra checks, have looked up the risks etc.
Here’s hoping healthy babies for all of us!

@Timetotryagain how are you doing?? Is this week 7? Hope you’re doing ok.

7 weeks tomororw and have a scan on mondau 🙏🙏🙏🙏

Whens your transfer??? @JJ1121

@Timetotryagain great to hear you’re doing well! How did your scan go? My period is due in a week so hopeful to have a transfer this upcoming cycle.

@Kappi how are you getting on?

@JJ1121 the scan was good, saw the heartbeat and saw it wiggle which was cute!

Hope your period arrives on time and then you can start 🤩 its natural you are doing isnt it?

@Timetotryagain that is amazing!! Congrats 🎉🍾 so pleased for you. I have regular cycles so it will be unmediated. My clinic takes a conservative approach so I’ll be on some medications like progesterone, prednisone and intralipids but hopefully that’s all 😅

Hi all, can I ask a few questions about the translocation please? Is this something that is picked up by karyotype testing or did you already know about it before? We are suffering from recurrent implantation failure so not sure if this is something we should be tested for! Is it just a blood test that would pick it up? Thanks in advance!

@TSHconfusion hi, I’m sorry to hear you are suffering from implantation failure. Did you have a transfer recently?

In my case, during my first round of IVF the PGT testing showed a high number of embryos all had the same genetic problem. Because of this the clinic recommended my parter and I do a karyotype blood test, which identified I have the translocation. So in our next round we did PGT-A and PGT-SR which tested for my specific genetic translocation and so far has improved the results.

@JJ1121 thanks for replying! I’ve had 3 transfers of 4 ‘top graded’ embryos (although untested) and had no implantation so far. We have 2 embryos left so are waiting to do our last transfer.

we were offered the karyotype test through the NHS but it was going to add another few months onto our wait and our consultant said it was extremely unlikely anything would show up on it so we just went straight on the list for transfer without it as it also didn’t change anything with the embryo we already have but I think we will probably do it for our next round. Will they test the embryos and find one without the translocation then and transfer it?

good luck with your round I hope it will be successful for you!

@TSHconfusion I hope you’re getting support! A failed transfer is devastating. Did your clinic mention what they think may be the cause? Did they recommend anything different for your next transfer?

In my case, my first round I had 11 embryos, which I was thrilled about. After PGT testing only 1 was euploid and 1 mosaic. We didn’t do PGT SR testing that round because it was only the one. We took our chances and sadly the transfer ended in a chemical. After that my consultant recommended a hysteroscopy. This is when they use a camera to check the uterus. They found a polyp which can affect implementation so they removed that. We were going to transfer the mosaic but sadly it didn't survive the thaw.

I then switched clinics because I needed a second opinion. This new clinic we had 8 embryos, 5 euploid and 3 of those didn’t have the unbalanced translocation (glad we did the SR testing on the euploids). So much better outcome (I also took growth hormone during this last round). In prep for upcoming transfer, I ordered the Daye test online which showed inflammation. So I’ve just finished a 7 day antibiotic course.

It has been a journey but really hoping I’ll be successful this time around 🙏 thanks for the well wishes! Likewise wishing you success!

@JJ1121 my clinic just think we’ve been extremely unlucky with this batch of embryos and just need to transfer them and hope for the best. I had a hysteroscopy and all came back normal and also had the blood test to check for sticky blood and it came back normal too.

I have recently been reading about how untreated celiac disease could cause implantation failure. Celiac runs in my family so although I do not have any symptoms I think I am going to try going gluten free just in case it could help.

that is great you have 3 great embryos now!! Good luck for your transfer! Will you be transferring soon?

@TSHconfusion Interesting about celiac, I had no idea. I’m just waiting for my cycle to start again (hopefully next couple days) and then will go into the clinic. So hoping transfer will happen next couple of weeks. What about you? Do you have a timeline for your next transfer?

@JJ1121 i had honestly never even considered it could have an affect but some research shows it can so I’ll definitely give it a go!

that’s good your transfer will be soon! We are hopefully getting called this week to say we are top of the waitlist and then will get our timeline but our clinic do a nasal spray for 6 weeks before transfer so is a long process

@JJ1121 is there a potential transfer date yet? :D