Genetic testing for Balanced Translocation after baby loss

[Grassisgreener99]

Hi all,

I’m new to mumsnet so please excuse the lack of knowledge but desperately looking for support and answers.

We have a healthy DS and recently lost DD due to Unbalanced chromosomes- (Chromosomes 2 and 7) which caused a long list of problems for her which sadly was not compatible with life.
At our de-brief meeting with the consultant we had bloods taken to check mine and DH genetics and are currently awaiting the results.
At the meeting the consultant said he believed this was a ‘one off’ as I had not miscarried before and we have a healthy son. However after he had a meeting with the genetics consultant they have now said its ‘highly possible’ one of us are carriers of balanced translocation chromosomes which, if the test comes back as this - there would be a 50/50 chance of this happening every time conceive.

My mum had a stillborn baby and 4 miscarriages, so I would assume I would be a carrier if this was the cause of the unbalanced chromosomes in our DD.

Anybody else experience something similar?
The thought of playing roulette with babies in the future kills me- to go through emotionally and physically each time, let alone the prospect that our DS could be a carrier also.
I’m really struggling with the wait of these results - not knowing what the future holds for us.

Thanks in advance

Yes, I think we have an appointment with a genetic counsellor in a few weeks as the geneticist was referring us to meet with someone else after the shock had worn off. She explained we had a 50/50 chance of miscarriage and then a 5% chance of it happening again if we got past the miscarriage point and the charity unique gave me the same stats. I think I’ll stick with their odds and not FB, especially as like you, we have a healthy girl.

My parents had no loses, just two healthy babies, my brother and I so they are in complete shock! My mums 2 sisters each had a loss each but 5 children between them…it’s so bizarre!

Your current pregnancy sounds very positive. I remember looking at our 12 week scan measurements and thinking they looked a bit off, the dials were all over the place where I remember my daughter was always on the top of the scales and was in the 95th percentile. No one ever raised a concern though.

I know we will need to have the CVS this time and would never waste money on a harmony, but do you get any additional checks or care during these pregnancies now the medical professionals know?

I am based in the south east of England so very close to London and some good IVF clinics but at the moment, I would like to try naturally a bit longer as I’m scared of the affect IVF would have on my mind and body too. I’m also know sure if the stats are any better for actually getting our bundle of joy? I have two friends who have both had multiple rounds of IVF and no luck and it’s equally heartbreaking for them each time. I suppose we could say at least we can get pregnant so surely our body is a little more open to the idea?

I’m also not sure if the IVF stats*

Of* sorry! Fat fingers!!

@happygolucky20 I do struggle with the support group on Facebook as some have had so so many losses but my husband always says it because they have a need to post as they want help and support so the ones who have success stories won’t necessarily post. They do have research to back up the 2/16 and I’ve asked the genetic counsellor but she said if you go into the finer details it can get complicated. So stick to knowing it’s more 50:50.

It could be that yours wasn’t inherited and you were de novo or your parents were super lucky! Until they are tested you just won’t know. I think the genetic counsellor does a family tree and if the family have more children than losses it’s assumed you would too.

So, with our first daughter before we knew about the BT, we had a high risk for downs and paid privately for the NIPT which came back low risk- now we know that as it doesn’t look at our concerned chromosomes it’s not worth doing at all. We don’t really get anything extra buy are under FMU consultants for all scans. For this pregnancy and the last we had an early 9 week scan, then CVS attempts at 11 and 12 weeks which they couldn’t do as my placenta is in the wrong place and now have to wait until 15 weeks for Amnio. If the Amnio this time comes back ok, then we can opt for our consultant to do the 20 week scan of go back to normal sonographer/ process. We will opt for stay with them as I will need all the reassurance possible after what we’ve been through and would rather an expert in the field look at the baby than just the usual 20 week check in.

So most people in the support group opt for IVF if they know they have a possibility of carrying an UBT baby. They did a recent study with all members and I don’t think there was a benefit of IVF over naturally conceived healthy babies. I guess it takes the heartache out of having to go through birth of UBT or miscarrying a number of times but like you, it’s not for me and it doesn’t guarantee a baby at all especially with balanced translocations. I think a number of them have to do 3-4 rounds to even get 1 embryo not effected by BT. It annoys me that just because we have 1 healthy child, we don’t qualify for funding as I would like the choice of all this got too much. I also think our bodies are amazing and if you are able to conceive easily and have no underlying issues then there’s nothing stopping you from trying naturally - as long as we know the risks. Every time we have fell pregnant, we expect it to go wrong until we get told otherwise. We’ve been given hope only to have it taken away too many times now. It’s sad that every pregnancy is now filled with such anxiety. Even this pregnancy we won’t relax until the Amnio results and the 20 week scan, then when we are actually holding our baby in our arms. I’m thankful I experienced a happy, healthy pregnancy before knowing so I can truly know what it a like not to worry about every little thing and break down at very appointment.

Our consultant said that me and my husband are compatible as we have a healthy child and he was sure we would have another healthy child at some point, he just said it depends on how many losses it takes to get there as it’s basically down to luck at point of conception!

Balanced translocations are truly awful! I will say that some people have 4 healthy pregnancies in a row yet some miscarry 10+ times to have 1! So we’ve said we will keep going until one of us mentally cannot take the heartache and stress anymore.
We know now what to look out for in our UBT as it’s mainly about the development of the brain, head and overall growth so they know exactly what to look for on scans. Our last daughter had spina bifida which was caused by the UBT (deletion on chromosome 7) so now they are super focused on checking over the spine too. Everything appears positive so far but you never know with BT it plays tricks on you as not everything is visible - hence why it takes the baby to develop to spot signs. So until we get the green light, I will assume I won’t have a baby at the end of this 💔

We are going to continue until we have our baby. All this pain and whatever pain in the future will be worth it.

Hello. I just wanted to say hello and that you're not alone. My husband has a balance translocation We have amnio with our first pregnancy and all was well, but them we had an unconnected loss at 23 weeks. I then had a second pregnancy that was a MMC - confirmed due to an unbalanced translocation. After failing to get pregnant for over a year, we then had PGD IVF and now have a perfect daughter. We have screened embryos remaining that we hope will give her a sibling. We were at Guys in London, which I believe is one of the best hospitals for PGD.

Nothing really to say other than you're not alone.

@Bumbers thank you for sharing your positive ending!!! I have read many happy endings with Guys, it gives us hope that if we can’t get there naturally we will get there with PGD IVF x

@Grassisgreener99 so I went on the fb page for 5 mins and deleted it! There is zero hope on what I read! Focusing on we have had healthy children and we can do it again!!!!!

I just wanted to add to this string to say that my husband has a balanced translocation and, despite 7 miscarriages (all but one of which were very early), I have 3 healthy boys. My advice would be just to keep trying. Statistically it should only affect 1 in 2 of your pregnancies, so eventually something should work out.
We tried IVF with genetic testing (3 rounds) and I wish we hadn’t - it was an unnecessary waste of money and my 3 successful pregnancies were all natural.
I managed to get into a frame of mind where I could accept the attempts that didn’t work and celebrate the ones that did. And we did CVS early for each pregnancy so I knew within a matter of weeks that the translocation was not an issue with the pregnancies that were progressing.
I think mental state is so important - believe. Good luck!

@Grassisgreener99 hello, first I would like to say sorry for your losses and all the heart ache of getting your rainbow baby.

The post was very interesting and I would just like to know how your pregnancy was going. ? I hope is all well.

I just lost a baby at 16 weeks and previous termination due to T21 and other reasons. We are currently waiting on results but I’m going to waiting a while, I have a crazy feeling this is also my issues, so I was just really interested on your results and how your getting on.

@Calbooo hello! Thank you. I’m also sorry to hear about your losses, words are never enough to describe the pain of going to any loss, but especially a 2nd trimester loss 💔

So our 4th pregnancy is all good and healthy! He’s growing well and our son is so exciting to have a sibling due in Feb. We had an Amnio to confirm at 15 weeks and our FMU consultant (UK) has been absolutely amazing and we’ve been scanned every 3/4 weeks until 23 weeks and now every 6 weeks. We’ve had lots of additional support to help through the anxiety that even though he’s healthy in regards to the translocation issue, we still have normal pregnancy risks and the thought of going through so much to get him and something unrelated happening terrifies me.

For us it has been 50/50 odds but I know that’s not the case for everyone and I’m so thankful for our son and this baby. I hope you find the cause and get the answers you will need for the future, your beautiful babies will be with you in your heart always.

@Grassisgreener99 thank you for your reply.
I’m so happy things are going well, I can understand the anxiety of it all, especially after everything you have gone through.

I found this post very relatable & slot of information that I will be looking into so I appreciate the reply.

All the best in your pregnancy & I really hope all go’s well. It’s well deserved ❤️

I just wanted to add to this page, as I was a previous poster under the name of happygolucky, and I struggled with the lack of hope. But, we have just had our healthy baby, born via IVF with genetic testing as I carry a translocation. If anyone searches for this post after finding out they have a translocation, have hope. It can and does happen but it will be challenging. We lost 8 or 9 pregnancies (we stopped testing after a lot of early losses) during our time trying but our arms are now full. X