Translocation/IVF/PGD - OMG WTF?

[hazeesh]

Hi,

Very new girl here so excuse flagrant flouting of unwritten rules/misuse of acronyms and misplacing of thread...

We've just started trying for a baby but after a routine visit to the doctor in which I mentioned briefly, that, like, 'I think my husband might have the Down's Syndrome gene?', we discovered he has balanced Robertsonian translocation on his 14th and 21st chromosomes (although the good news is the 'Down's Syndrome gene' literally doesn't exist).

Essentially, it heightens our risk of miscarriage, gives us a 1% chance of conceiving and carrying through a Down's Syndrome baby and also a chance of having a baby with something called UPD14, plus trisonomy 14, and other stuff. I think.

Our local genetics service has offered CVS, amnio and also IVF with PGD and I'm (/we're) trying to figure out what to do.

Anyone have experience with Robertsonian translocation and been through this before? Different places state different things about chances of miscarriage. Any anecdotal experience would be super helpful. I've become addicted to the brilliant Here be Hippogriffs blog but it's a bit scary...

Pro of IVF is the screening - but I understand there is no guarantee it will work? And as it's the NHS, I'm guessing there's a waiting list - anyone know what the waiting times are like?

On the other hand, CVS carries a 1% chance of miscarriage and sounds... pointy.

If anyone has any advice/experience I would love to hear it.

[Oooblimey]

Hi!
The good news is that at least you know your reason for struggling to conceive! We discovered last year, after 4 years TTC and several miscarriages, that my hubby has a balance translocation on 13 & 17. I feel releived that I now know why I was struggling to concieve.

I have just had my two frozen blasts put in, they've not been tested as we had them left over from ICSI last year before we knew about the translocation. For us to have the whole screening thing it would mean a lot of travel, and having done the ICSI thing in the past we thought, sod it, we'll take our chances with the frosties, if I MC (which I am prepared for and expect to!) then we will do ICSI again with the PGD later in the year.

I've not been through it yet but I have a friend who has. I would adivse to ask exactly what they are looking for, some clinics, and especially if they are NHS, will only check for your specific translocation but not other genetic abnormalities. (my last MC fetus was tested, it had didn't have my hubby's chromosome issues wth 13 & 17 but randomly had a whole extra 16 hense the MC!) Some clinics will check for everything, which sounds great but it may mean none being "normal" (this happened to my friend) and some of those "not normal" ones potentially might have been something very mild and resulted in a perfectly fine baby (maybe just with the tranlocation gene for example) At the end of the day you need to do what you are comfotable with and sod everyone else.

I wish you lots of luck. Keep in touch because it's so good to be able to talk to people with similar issues.

[BipBippadotta]

Hello there,

I'm currently doing ICSI with PGS simply because I'm older & have had 2 miscarriages (in spontaneous pregnancies) caused by chromosomal abnormalities. We've had genetic testing ourselves and have been declared 'apparently genetically normal', so no experience with translocations, but have had a lot of genetic counselling about PGS.

The reasons PGS may not result in a successful pregnancy are either that there simply are no chromosomally normal embryos, or that some embryos may be damaged during testing (this is relatively rare), or some may not survive freezing (some services can do rapid PGS so that embryos don't need to be frozen - depends whether they have a lab onsite - speak to your genetic service about this). As they only take a few cells from each embryo, they can''t be 100% sure that an abnormal-seeming embryo does not have mosaicism rather than a full trisomy, etc, so there is a slim chance that some embryos that might have developed into living babies might be discarded. So there are risks. They don't recommend PGS for people who are under 35 and have no known chromosomal issues, but they do generally recommend it for people who do have small genetic abnormalities such as translocations.

After 2 miscarriages I decided that if I was spending all this money on IVF (I'm not eligible for NHS treatment) I didn't want any embryos put back in me unless I knew they had the right number of chromosomes. I would rather know at the outset that no embryos are normal and get on with the next attempt than get 8-12 weeks into a pregnancy before discovering that it is not viable - it's emotionally draining and I don't have time to waste at my age.

CVS is something they can only do once you are already pregnant, and 10-12 weeks in. So it won't help you to conceive, but can help you make decisions about whether to proceed with an established pregnancy. It is invasive, and there is a risk of miscarriage. But you can also have things like the Harmony or Panorama test, which are non-invasive blood tests to screen for common genetic issues like Down's, Edward's Syndrome and Patau syndrome. You'd have to do these privately but they're about £400-£600 depending on where you get them done, and you can do them from 10 weeks.

NHS waiting times for IVF depend hugely on your area - your GP may have an idea of this. Where I am it's about 20 months but it can be as low as 6 months in some places.

Good luck!

[miamiaMo]

Hi, sorry you're going through this. Cant help much with personal experiences but you will find details of PGD on invictaclinics com/pre-implantation-genetic-diagnosis-pgdpgs-ngs and
biotexcom com/everything-what-do-you-need-to-know-about-pgd-before-having-an-ivf/
Hope it helps

[hazeesh]

Hi guys,

God, thanks so much for the replies. I knew translocation was a pretty rare thing so wasn't holding out a huge amount of hope for anyone else having been through the trials and tribulations of it all! But anyone having been through PGD is helpful.

In short, we've been referred to Guy's and St Thomas' PGD unit so I will eagerly await contact from them. We've been told it's eight-12 months before we can even begin a cycle. Say what you like about the US medical system, but at least it's speedy...

Even just getting pregnant seems to be a bit of a problem for us. Just weakened and took a test. It was negative, of course. A baby just feels so far off! :(

[Sweetdee6]

Hi There!

Very new to this (just joined today!). My husband and I were first interested in starting the IVF/PGD process back in November 2015 when we met with his doctor. He has the Huntington's Gene and so we didn't want to risk our children getting that as its 50% chance.

After meeting with his doctor they referred us to Guys hospital, we got our first appointment at Guys in February and then received a letter in March that we had to fill out and send back basically confirming we wanted to go ahead with IVF/PGD.

From that we went back in April to give some blood and then we didn't go back until November 4th when we had our fertility assessments done. The waiting time between these two appointments was due to us being on our honeymoon in October ( they wanted us to come in then) and also take into account the lab has to come up with a gene code that they can then use to look at the embryos and see which ones are not affected, this takes approx 3 months. And also the waiting time for the funding to be approved is approx another 3 months. I had to go back again December 16th for a follow up fertility test which was all clear.

The ACU manager called me December 20th and gave us our stimulation cycle start date which is next Wednesday the 8th! All our medication was delivered to us before the holidays as well. Everything has moved quickly, at least its felt like its flown by since getting funding approved!

I hope this helps you out a bit in terms of timings.

I wish everyone luck with this journey and positive thinking!

xx

[ShanTTC22]

Hi everyone, I know this thread is so old, but I have just found out my partner has balanced translocation of 14&15. We had been referred for IVF due to his infertility struggles, and now we have found out about this we have to wait for genetic counselling. Just wondered if anyone sees this and has any update to share, just looking for a little hope or an expectation :(

[Munchies30]

Hey! We had IVF PGD a few years ago due to myself carrying the balanced translocation (causing many miscarriages) and it was successful, we have a little 2 year old.
It's a really long process with many challenges in the way but can definitely work.
We are in the process again for a sibling x

[hazeesh12]

Hi. OP here (lost my login details for the original username!). I got a notification that someone had posted in this thread so thought I’d update you and maybe it’ll provide some hope.

I posted this in 2016 and in 2017, after investigations that found I was unable to conceive myself, we began IVF. In our first (and only) egg collection, we made six embryos which were tested for my husband’s translocation, and five were found to be genetically normal. We had our first daughter in 2019, after more struggles with my infertility problems, and our second seven months ago.

IVF is far from the ideal way to conceive, particularly if you are going down the NHS route and have to endure waiting lists. But it can happen, and a translocation is a relatively simple problem to overcome. You know what you’re dealing with, which is the most important thing.

I’m so sorry you’re going through this. It feels hopeless and awful and so confusing. Give us a shout if you need any more advice and I’ll help if I can. During my struggle I also started a podcast and wrote a book - don’t know if it’ll help, but check it out: both are called Big Fat Negative and we talked about loads of this stuff on there.

Good luck xxx

[Munchies30]

Ahhh OP I'm soooo late to the BFN podcast (it's actually the only podcast I've ever listened to) but I'm on season 1 and love listening to it when getting the little one to sleep or walking the dog. I'm so glad to hear it all worked out for you in the end 😍x

[Munchies30]

Also your husband and I also have the same translocation (UPD14) x

[ShanTTC22]

thank you so much for your response, that’s such a gift of hope for us!!! Does the process for PGD make everything take even longer? It’s so hard waiting for it, but it’ll all be worth it in the end!

so glad everything worked out for you both! And that sounds great I will have a listen!!

thanks again for replying xxx

[hazeesh12]

It depends where you’re going. My clinic had PGD capabilities in-house (there are very few that do). If that’s not possible, Try will send your embryos off to somewhere that does, which does take a few weeks. The wait is agonising!! Even doing it in house made me into a crazy person. But once they are tested, the chances of pregnancy loss etc become the same as anyone else’s, which was very soothing for me.

[hazeesh12]

So glad you are enjoying it! Those early episodes seem so long ago now!!

[ShanTTC22]

Ah okay thank you! I can imagine it’s torture waiting! Did you have genetic counselling before being referred for IVF? Not sure what to expect!

we are in Nottinghamshire so we are going to nurture fertility once referred

[hazeesh12]

We technically did but my husband went by himself because he insisted the appointment was just for him! Then the woman was like ‘errr where’s your partner?’. It was a lot of talking through options, etc.

[ShanTTC22]

Ahhh bless him haha, yes the letter is for both of us but my partners like that I get it haha.

thanks! It’s on 2nd jan so hopefully thing can start moving after that!