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

I have something similar and just sent off 6 for testing, realy nervous for results!

Best of luck!
6 is a great number to be off for testing - hopefully all comes good for you. Such a stressful time! X

@Kappi thank you! Will let you know how we get on. We have had 3 pregnancies, one which was confirmed to be affected and the other two which we can assume were but the fetus wasnt tested. It seems so rare i havent seen anyone on mumsnet talk about it before! Theres a fb group called balanced translocation support group which has super useful info and personal stories etc

Our last pregnancy was tested, and didn’t carry the translocation but was partial molar. We only discovered my translocation when the Ivf team were curious why all 3 of ours ended before 8 weeks.

I’ll give the fb groups a look! Finding anyone else in the boat helps! Thank you for the recommendation!

It’s just terrible isn’t it - Miscarriage is all we know so far. Got everything crossed for you and your 6! X

Whats the next step for you? Do you have any embryos to test or do you need to do another egg retrieval? @Kappi

@Timetotryagain 1 made it to biopsy after all - couldn’t believe it! We had 5 fertilize, 3 make to blasts but only 1 good enough to test. So I’m praying that the tested one is euploid. If not we go again for egg retrieval. We’ve got 2 rounds left on our funding thankfully. Very fortunate there.

@Kappi when did they get sent off? Is it to cooper genomics too? Ours get sent tomorrow (biopsied this weekend)

@Timetotryagain Im not sure, but that sounds familiar. It’s honestly amazing what they can do!

Hello! So grateful to see this post! Are you in the UK? Found out last year that I've got a balanced translocation after 3 failed transfers (repeated implantation failure testing also found a clotting disorder) - I don't think the IVF clinic were expecting to find anything as we also have MFI 🙈
Currently on the waiting list to see Genetics but honestly no idea what to expect from them!

@EllsBells93 i am in the UK :) do you have any frozen embryos? The geneticist might advise they get thawed and tested to see if they have the translocation

@Timetotryagain Unfortunately from 3 retrievals we didn't have anything good enough quality to freeze - those that were transferred wouldn't have been freezable/testable either 😞
Did you have a long wait for genetics? X

@EllsBells93 thats a shame:(

I got referred last june (2024), saw them in November (2024) and they then referred me to the ivf clinic that does the nhs testing and then it was march (2025) that i had the cycle with them and now waiting for the embryos to go through the testing

Hi,

I’m not currently sure if I have a balanced translocation however we have been referred to genetics. I have had 3 miscarriages plus a TFMR at 16 weeks for T21. The 3 miscarriages were with my ex-partner, the 3rd was tested and had trisomy 11 and triple X syndrome, so I’ve had at least 2 pregnancies with different chromosome problems. I did get tested for balanced translocation following the 3rd loss which came back clear, the TFMR pregnancy was the first try with current partner and he has no other children so is yet to be tested. I still feel like they could have missed something with me so I’m hoping to get a further in depth genetic test.

Can I ask did you get access to the pgt testing on the NHS after finding out about the balanced translocation?

@Notsure31 hopefully genetics can provide you with some answers 🤞

And yes, after they had confirmed the issue the referred us to a fertility clinic that does pgt testing for nhs. I think its usually 3 rounda offered

@Kappi have your pgt results come back yet?

@Timetotryagain how are you getting on? Also have a balanced translocation (7&10). 1st round we had 11 blastocysts to test and only two normal. One transfer was a chemical and the other didn’t survive the thaw :( Now on day four stims of second IVF go. Staying hopeful though!

@JJ1121 thats devastating about the chemical and then not surviving the thaw :(

Sounds like you had a really good response to the meds though so hopefully you get lots of blasts again!

I am still waiting for the test results on mine. I got impatient and called them today as its been 2 weeks and they said they hadnt received anything yet

@Timetotryagain yes hope so! Good luck with the testing. I’m sure there will be some euploids in there!

I hope so as we sent 6 🙏 @JJ1121

Did you have miscarriages before finding out about your translocation?

@Timetotryagain unfortunately yes, 3 that made it to about 7 weeks and 3 chemicals. What about you?

@JJ1121 yeah we had a few as well. And i think quite a few chemicals. I would often get really faint lines that amounted to nothing and i thought it was just line eyes but i also felt pregnant and had strange spotting that ONLY ever happened when naturally ttc. When we have had cycles without trying i had no spotting atall. Has anyone else in your family been tested too?

@Timetotryagain sorry to hear that. It all sounds very familiar. I hope you’re getting the support you need. They have been tested but I am the only one. What about you? Does it run in your family? Do you have a Robertson or reciprocal?

@JJ1121 a few of my family are being tested at the moment. I have a reciprical one (and apparently for females with a recipricol it can be harder than a male wirh a recipricol or a female/male with robertsonion. Is yours recipricrol?

@Timetotryagain Yes also have a reciprocal. Yes, met with a genetics counselor who mentioned the same thing. The genetic counselor also mentioned your chances can also depend on your breakpoints, I guess some breakpoints are more “gene rich” areas than others. She also mentioned we have the same chance as anyone with a normal embryo. Feels like you have a good chance with these 6! Hoping my first round was just unlucky.

@JJ1121 yeah i think you have a good chance given how well you responded last time :)

How long did your results take to come back and was it cooper genomics? Its been 2.5 weeks now since ours were biopsied and sent and not heard anything yet i am getting impatient haha