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 not yet! On day 7 of my cycle at the moment. Scans and bloods all look good. Thinking it will be first week of Sep! How are you getting on?

@Timetotryagain not yet! On day 7 of my cycle at the moment. Scans and bloods all look good. Thinking it will be first week of Sep! How are you getting on?

@JJ1121 not long now for you! Glad sll the scans are looking good :)
I am 9+4 now and had a scan today and all looked well :)

Hi all,

I'm so grateful to have found this thread! After 3 miscarriages I received the results this morning that I have a balanced robertson 13/14. Feeling super lost and overwhelmed currently - they explained it means 50% chance of miscarriage in a natural pregnancy or as we have no children, we can qualify for a round of IVF on the NHS.

I also found out I'm pregnant again last week so feeling a bit like a ticking time bomb!

Hearing your IVF stories has been so reassuring that this isn't the end of the road.

They have said the next steps for now is 2 weekly scans and then further screening. I'm a bit confusing by the further screening part, as on the phone earlier they reassured me I wouldn't be passing anything on to the baby (only potentially what I have) as any abnormalities would be so severe it would mean the pregnancy can't progress (my previous pregnancies all ended around the 7/8 week mark).

Everything crossed for healthy pregancies and successful transfers for everyone .

@KRC92 sorry that you find yourself in this club too but congratulations on your pregnancy ❤ will you opt for an amniocentiesis if pregnancy progresses?

I think the extra scans will monitor to see NT and other indicators of genetic issues because despite large breaks some fetuses with an issue can continue to develop into pregnancy and not cause miscarriage. I hope this is a lucky embryo for you!

Thanks @Timetotryagain had my transfer this morning! Blood test on September 12th so will now have to wait but feeling positive! How are you getting on? Is it 12 weeks this Friday?

Oh wow how did the transfer go?? @JJ1121 are you testing early or waiting untill OTD?

Yep i have my dating scan this week when i will be roughly 13 weeks

@Timetotryagain I think it went well! I’m going to wait for the blood test on Friday. I tested early last time and it was positive but ended up being a chemical :(

How are you feeling?

@JJ1121 good luck for tomorrow! Is it a same day result?

How are you feeling?

Hi everyone hope you don't mind me joining. I found out back in December that I have 2 cells lined, both with different translocations. One cell line has a balanced translation of 9 and 13, and the other cell line has a Robertsonian translocation of 13. I had karotyping done after 3 missed miscarriages, and the third showed trisomy 15 (so not related to my translocations, just unlucky). My 4th pregnancy then also ended in missed miscarriage due to triploidy, again just bad luck.

And then last week we sadly lost our 5th pregnancy, a little girl, I had to be induced at 22 weeks due to infection, and she lived for just a little over an hour. We are absolutely devastated, especially since we have the higher risk of miscarriage when TTC anyway, and she was a little miracle. It seems so cruel to have had 3 random losses as well as being at higher risk of miscarriage.

I am eligible for IVF with PGD on the NHS, once I'm healed and off blood thinners we will be putting in our referral for that. We've not had IVF before, all conceptions have been natural to date. We are also thinking we will keep trying naturally whilst we wait for the referral as we know it takes a while to process.

Would love to keep in touch with people who know what it's like to have a translocation(s) as I don't know anyone in real life.

@Moosey898 so sorry to hear about the loss of your little girl, absolutely devestating 💕💕 and also of your translocation news too :(

I found IVF much easier than natural conception because there was less worry from the start but i know lots of people who have naturally conceived a "normal kareotype" baby no issues

@JJ1121 how are you doing 💕💕

@Timetotryagain thanks so much for checking in. It was positive but unfortunately HCG levels decreased and it ended up being another chemical :( I have two normal embryos left. Debating doing a medicated transfer next time. How are you doing?

@JJ1121 i am so sorry for your loss :( yeah i would consider doing medicated cycle or potentially a hysteroscopy to check that the womb is all prepared for inplantation etc. What have the clinci said about two chemicals in a row? Theres also the ema/era test you could do but its so good you have 2 normals left to transfer ❤❤

@Timetotryagain thanks so much for the suggestions! ❤️ yes had a hysteroscopy not too long ago and all was fine. They did mention the ema/alice so will definitely give that a go. They also want to do a medicated cycle with progesterone injections. Are you getting on ok?

@JJ1121 medicated cycle might be a good option like you said 💕 with your naturally conceived pregnancies was your progesterone an issue?

I am doing well, 16 weeks now plodding along nicely 💕

@Timetotryagain congrats!! That’s so exciting. I did the Emma / Alice test yesterday. Was so uncomfortable 😣 but glad I got it out of the way. Hopefully some useful info comes of it. Will do a medicated cycle next month. Staying hopeful 🙏

@JJ1121 glad its over for you! Was it basically like a small biopsy? When do yoi get results?

Hey everyone - so I'm going to put my referral in this week, just choosing between 2 clinics (both of which helpfully had open evenings this week so I can get a sense of both). My other half is happy to go wherever I choose which is fab. Nervous to start on the IVF journey - if anyone has any tips/things they've learned please share. Hope everyone else is doing ok x

@Moosey898 what choice do you have between? I think i read that theres only 2 or 3 places in UK that does NHS pgt-sr

Yeah there's 4 haha - my 2 choices I've narrowed down to are CRGH and Oxford Fertility Centre. Oxford was originally out because of distance but found out they have satellite clinics for scans etc so really it's like 3-4 trips to their main Oxford centre for the big bits.

We did oxford and really rate it! Same with the satelitte clinics for us so made it handy for the blood tests and scans! @Moosey898

@Timetotryagain that's really good to hear! I need to work out what their closest satellite is to me, hopefully nice and close by. How long did you have to wait from referral to first appointment? I assume at first appointment they also do all the basics stuff like height, weight, BMI, blood pressure etc?

@Moosey898 the genetics refereed us to the clinic in november/ December and then i called to check they had received my referral and they had (just before Christmas) and then they said because of christmas break admin wouldnt be processing until jan and then i think at start of jan i got a call to book me in for my initial blood tests and call etc. And then from being in the clinic in jan, my ivf cycle then started end of March :)

My sister and I both have the translocation 13/14 she played with the odds and conceived 2 naturally I believe with acupuncture with the fist and natural with second I conceived my first child with tcm shortly after a miscarriage and trying again ten years later! Maybe try Chinese herbal meds or acupuncture see if it helps