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

[Pacif1cDogwood]

First of all, condolences for your loss - so sad to lose a much hoped for baby

I have a balanced translocation of chromosome 13/14. This gives me a high chance of having pregnancies with Trisomies 13 or 14.

I have had 4 miscarriages and have 4 healthy DCs, one of which also has the same translocation, the other 3 have normal karyotypes. None of my MCs had anything to do with my translocation - go figure! It turns out that my mother has the same genetic variation - she had 2 healthy pregnancies/2 healthy children (myself and my brother).

Has you had a meeting with a clinical geneticist yet? They are most marvellous people, capable of explaining really complicated issues in an approachable way.
The pure maths of chromosomal issues is not borne out by the actual reality of affected pregnancies as nature has an interesting way of 'screening' affecting gametes out. An affected egg cell is less likely to become fertilised, an affect sperm cell is less likely to reach the egg.

IMO and IME conception and pregnancy are akin to Russian Roulette and for me the main question was 'will I take this leap of faith again or will I call it quits?' - personally, I felt I had to take the risk and I can live with the ratio of unsuccessful vs successful pregnancies in my case.

V best of luck

[Pacif1cDogwood]

there would be a 50/50 chance of this happening every time conceive.

That can't be right, I don't think.

[Grassisgreener99]

@Pacif1cDogwood thank you so much for replying!
We’ve not had an appointment with genetics just yet as we are still awaiting the blood tests results to confirm whether one of us have BT. I’ve just assumed worst case now due to my mums losses and also because we’ve gone through such hell loosing DD that I just assume it will get worse. I’m really really struggling with the wait of the results. We very much want another child and I do believe we will try again - but the thought of a positive test then counting down to a CVS drains me after the heartache so far.

So, should the test come back as positive for one of us- the genetics team will break things down for us? - the consultant basically explained it as the opens would be;

• baby with normal chromosomes
  
• baby with inherited balances translocation (Carrier like is)
  
• miscarriage
  
• Unbalanced chromosomes- baby unlikely to be compatible with life or have severe abnormality.

[Pacif1cDogwood]

Yes, the waiting is the worst of all! Human are not particularly good at dealing with uncertainty.

The 4 possibilities as you listed them are correct.
The Clinical Geneticist will explain it really clearly to you.

But apart from the maths, it is also important to understand that nature selects at the point of conception or shortly after (miscarriages).
A baby who also carries the balanced translation is as healthy as the next person (like I said, my mum has it too and never knew as she was pregnant x2 and had 2 healthy kids without any complications or problems, she was only tested after my issues came to light).

I had all my MCs and successful pregnancies as an older mother and none of my losses had anything to do with my translocation (which was diagnosed after my first MC at my request because I was >35 years old).

Be really kind to yourself. Do lots of stuff to distract yourself, practice mindfulness, eat well, get out of the house, speak to your DH and try your hardest not to get ahead of yourself.

There are so many things that can go wrong at conception/during a pregnancy, it's a miracle any babies are born! My experience was that I was so well looked after by the Recurring MCs Clinic and then later during early pregnancy that I actually felt really positive about my choice to try again, even when it sadly went wrong.

[mrsof20118]

So sorry for your loss. We have just lost a baby to a chromosome abnormality and awaiting the follow up appointment from testing. The wait is agonising and I'm already playing what ifs in my head about trying to conceive again. Fingers crossed for both of us. Have they said how long the results will be?

[Grassisgreener99]

@Pacif1cDogwood I’m so sorry for your losses and what you’ve been through to get your babes. It’s made us so thankful for our DS, he’s very special.
Thank you for your reassurance and reply! Is been daunting to think we will have to go through what we’ve been through with DD every time - put it can happen and we have our DS to prove that.
We didn’t find out until our 20 week scan with our daughter and I have birth to her at 21+ 3, then a 4 and a half month wait for the post-mortem and now another wait for these results. Just feels like a never ending nightmare!
I guess it depends on the chromosomes that are effected and the genetics team sound amazing at giving us the information and support should that be the case.

@mrsof20118 I’m so sorry 💔. It’s the most horrendous pain to go through.
We had to wait 4 months for the post-mortem results, where we were given our DD diagnosis- at that appointment the consultant told us it was likely to be a one off but took blood for the genetic testing to confirm that was the case. He then had a multi- disciplinary meeting with the lead consultants last Weds and from that meeting the genetics consultant advised him that it was ‘highly possible’ that one of us will be a carrier, so he fast tracked the test results which they hope to have this Friday, if not the following Monday which would be 3 weeks from the bloods being taken. If it wasn’t fast tracked we were told it would be at least 6 weeks.
I completely broke down having another wait to find out what our future holds. It’s absolute torture. I’ve come to the conclusion that I will be a carrier due to my mums losses!

[Parkandride]

So sorry for your loss Did they mention PGT to you - ivf where they screen embryos for the balanced translocation before they implant them? Downside is the waiting lists plus the horrors of ivf, but less emotionally harrowing than having to make those decisions when you're actually pregnant.

[Grassisgreener99]

@Parkandride they haven’t just yet as they said to wait for the results before jumping ahead to explore options until they know whether one of us are carriers and if we are which chromosomes etc. I have read about it though.

I guess I have to take a step at a time but it’s so difficult not to assume worst case, especially with my mums losses.

[Pacif1cDogwood]

You are very early on in this rotten journey - honestly, do your best to not get too far ahead of yourself.
Don't assume the worst - time enough to worry about it IF it turns out to be the case.

The fact that you have ha one healthy child HUGELY goes in your favour

[Grassisgreener99]

We had a call from the hospital today and my husband is a carrier of balanced translocation chromosomes 2&7 the same as our DD had (unbalanced). We have been referred for genetic counselling now.
I’m heartbroken as the thought of what we might have to go through to have another baby is so Emotionally draining. We were hoping to start trying again this month but now have to wait for the genetics - no idea how long the referral takes

[Pacif1cDogwood]

Sorry to read your news.

The genetic counselling will be great for you both.

If I remember correctly the MAN being affected by the balanced translocation is actually good news as individual semen cells affected by it are a little 'heavier' and therefore slower than unaffected semen cells, so rather than what the maths suggests (chances of completely unaffected child 25%, carrier child (like your husband) 50%, affected child (25%)), the odds are much skewed in your favour. Nature is marvellous.

Of my 8 pregnancies (4 losses, 4 children) NONE were due to a trisomies due to my translocation (well, the first MC we do not know anything about because we just accepting it as 'one of those things'). Of my 4 DC one is a carrier, the other 3 have a normal set of chromosomes.

As PP have said there is selective preimplantation of IVF achieved foetuses, but oh, the stress of IVF! I'm not sure I could have withstood that myself tbh.

V best of luck to you, don't be too despondent. It is a scary and stressful thing to live through. Look after yourself.
I don't think that there is anything to stop you from TTC again if you feel ready.

[Grassisgreener99]

@Pacif1cDogwood thank you for replying! It’s so nice to hear someone has had healthy children, although somewhat sadness along the way- it can be done!

I joined a BT support group on FB and they have scared the life out of me stating there is research that it is only a 1 in 7 or 2 in 16 chance of a healthy or balanced baby!! Those odds are just too high for my liking.

IVF scares the life out of me to be honest and hadn’t really considered it until hearing the above stats! But as we have a healthy son we don’t qualify for NHS funding and unless we re-mortgage, don’t have a spare £15k laying around.

I think we’ve decided to wait to speak to the GC and get the facts or what we are getting into before trying again.

Interesting what you say about the sperm, we’ve not come across that anywhere other than something that says there may be a 3% more chance of a success than if a women was the BT carrier.
I think too much knowledge has scared me. But I must remember we have our beautiful DS and are extremely lucky to have him.

I’m so Emotionally drained thinking about it. It’s all I’m thinking about constantly- we just want 1 more babe to complete our family

[Pacif1cDogwood]

it is only a 1 in 7 or 2 in 16 chance of a healthy or balanced baby!

Assuming that is the case, it also means 6 out of 7, or 14 out of 16 babies would be healthy/balanced.
Just sayin'.

There are NEVER any certainties when it comes to TTC/pregnancy/delivery and I suppose the only question is whether an individual is in a position to take that leap of faith or not.

Ok. I'll butt out now. Like I said, very best of luck. I hope the meeting with the clinical geneticist will be a good one

[Faithlovestrength]

Hello @Pacif1cDogwood and @Grassisgreener99 I have just come across this thread as I have had 2 MC in a row (no children yet) and so got a karyotype test, and they found that I am a carrier for balanced translocation. I just need someone to talk to as I feel very scared and alone, hope you get this message xx

[Grassisgreener99]

Hi, please don’t feel alone. There is a Balanced Translocation Facebook group that is full of information and people in the same position.

My husband is a carrier and we found out at the 20 week scan of our daughter last year- she had severe abnormalities that were incompatible with life and we chose to terminate at 21 and a half weeks. It’s also just happened again - Amnio results showed our second daughter was unbalanced, also incompatible with life and we terminated last Wednesday at 17 and a half week 😢. We don’t miscarry as my husbands breakpoints are small (small amount of information on chromosome 2&7 have exchanged so my body doesn’t recognise abnormalities to miscarry).
On the plus side, we have a healthy son who is 2 so it can be done!! Our FMU consultant and genetics counsellor have assured us, we can have another healthy baby but each positive pregnancy test there is a 50/50 chance of the baby being unbalanced and loosing it. We have to continue to try naturally as we have a son and don’t qualify for NHS funding and we will keep trying as long as we can emotionally and physically take it.

Also google Unique balanced translocation and that explains things really easily!

Please feel free to message and ask anything or offload. It’s such a difficult journey - it’s utterly heartbreaking

[Faithlovestrength]

Hi @Grassisgreener99, Thank you for replying!! I’m so so sorry to hear of your 2nd DD and the heartbreaking decision you had to make only last Wednesday. I hope you have a-lot of support around you and your DH, sending lots of love ❤️

Also 50/50 is good odds!

My last MC was in February this year and I just got my results yesterday from my GP. I was awake all last worried that I’d never be able to have children, my mind was in the fast lane to anxiety 😥 But hearing your have a DS is such hopeful news for me. My GP is referring us to a geneticist and fertility clinic, and he said meanwhile we can ttc.. the emotional rollarcoaster is so hard though.

Thank you for the FB recommendation I’ll check it out and same with the Unique Balanced translocation. X

[Grassisgreener99]

@Faithlovestrength you can absolutely have a healthy baby but it just might take a lot to get there (assuming there isn’t any other health problems). We were lucky that we had our son first time and only started this journey whilst trying to give him a sibling. We are so lucky as he’s given us the hope and know it can happen! Every time we try it’s a new flip of a coin- our consultant told us it’s as simple as that each time.

I had bereavement therapy last year and our genetic counsellor is amazing and has been this time. It’s so hard as it’s the not knowing for us until for the down the line - we had 2 failed CVS attempts this time and had to wait until the Amnio to find out the baby was unbalanced. It’s so hard.

Lots of people go to IVF with a balanced translocation but when we looked into the success rates we decided against due to the financial side of it too.

Give yourself time to grieve each baby is my advise.

[Faithlovestrength]

Wow @Grassisgreener99 it just seems so crazy to think that its just the flip of the coin.

Its hard to think about the journey ahead, but I know we want a family so much that we will just keep going until we have our happy ending. I’m glad at least now we know why we’ve been Miscarrying, but each time is traumatic and It will be so nerve wracking when we get pregnant again.

Its great to hear you have loads of support from your genetic councillor. When are they able to test for unbalanced translocation, as your pregnancies have progressed into the 2nd trimester? It would save you more heartache if I was detected earlier?

Yes from my point of view your DS is an absolute blessing, and your very lucky, and he is to have you as parents x

[Grassisgreener99]

@Faithlovestrength yes, positive tests are no longer a happy thing for us. It’s just filled with anxiety and waiting to pass each hurdle.

The CVS is diagnostic but can’t be done until after 11.5 weeks. Unfortunately they couldn’t do it twice this time as my placenta was in the wrong place. So the Amnio was done but that can’t be done until after 15 weeks.
It sounds awful and I would never wish any loss on anyone but I prey i would miscarry as having to give birth twice to your children that you don’t have is so traumatic and heartbreaking and then it’s the recovery after too. I don’t mean to cause any offence by saying that at all as it’s truly awful regardless of how you loose a baby.

Our son is our world and he’s got us through the last year and what keeps us going to get him a sibling too.

Some people have healthy babies back to back and never know out balanced translocation until they have children. This was the case for my mother in law, having had my husband and his sister with no losses. So there’s nothing to say you couldn’t have 2 one after another either. It’s so hard to find much information about balance translocations. X

[Faithlovestrength]

Oh @Grassisgreener99 That is truly sad how its not until 11, then 15weeks for the Amino test and cvs. No offence caused at all, baby loss at anytime it traumatic, but I can fully understand how it is physically and emotionally even more heartbreaking when they are a little bigger, its just so unfair.

My GP said it was really rare, which made me worried, but like you say if your MIL was a carrier and had no losses then why would she get tested, she wouldn’t need too. My own mum had a MC, then 2 DC, then another MC, then another 2 DC.. so she could be a carrier but also didn’t need to test as had children in between. So It could be more common than we think?

Its so sad how our bfp’s are just going to be filled with worry and anxiety, feel robbed of those excited feelings.

I hope that we don’t have too long to wait to see our geneticist and get more information.

Where there is will there is a way, and you will get your DS a sibling X

[Grassisgreener99]

@Faithlovestrength I think unique state around 1 in 560 people have a balanced translocation but new research indicates it more like 1 in 350 I think. But quite often people who have losses don’t have genetic testing straight away so the numbers probably don’t reflect the reality. Not sure where you are but we are UK and fertility isn’t looked into until after 3 losses. So if someone had a baby before it was investigated then it would go undetected. Same if people like your mum out my mother in law have children back to back then they wouldn’t know until their effected children started a family.

If you join the Facebook group you will experience just how many people are going through the exact same.

Here’s the link for Unique

www.rarechromo.org/media/information/Other%20Topics/Balanced%20translocations%20FTNW.pdf

I found the waiting for information or answers the worst last year. We had to wait 5 months for a post-mortem due to covid and then have genetic testing which was another month, so took a long time to get answers. I hope it’s not too long for you but your half way by knowing about the balanced translocation now. X

[happygolucky20]

Hi all
Just wanted to comment and see how you are all doing?
I’m due to have a tfmr on Monday after finding out our baby is very poorly and the hospital found in the amnio that I “was the cause” as I have reciprocal translocation. I can’t seem to find out the difference of balanced of reciprocal.
I have one healthy DD, one MC and now a loss at 23 weeks so I am hoping we can have faith and not use IVF as that scares the hell out of me!

[Grassisgreener99]

@happygolucky20 hello!
I’m so sorry you’ve had to go through this awful journey too. Since my first post on this thread, we’ve had another loss - after 2 Failed CVS attempts as my placenta was in the wrong place they did an Amnio at 15 weeks and the results came back unbalanced again. So we have had 2 TFMR 21 and a half weeks and 17 and a half week and it’s utterly heartbreaking.

I’m currently 12 weeks pregnant and so far it’s all looking good and measuring on track which our UBT girls didn’t. Just holding on to all the hope! They couldn’t do the CVS again so have Amnio on the 23rd august. We also have a healthy 3 year old son and he’s our driver.

I’m regards to your diagnosis, it’s either a reciprocal balanced translocation or Robertson translocation. The other one is an inversion but only involves 1 chromosome I believe. You should have been given your full karyotype to know which you have and on what chromosomes. My husband has a reciprocal balanced translocation on 2:7 but small break points which means we are more likely to carry an UBT baby than to miscarry. I’ve never had a miscarriage.

Let me know if there anything I can do or feel free to PM me! I wish you all the best for next week. 💔

[happygolucky20]

@Grassisgreener99 thank you so much for messaging back and sharing your journey, I am so sorry to hear about your two loses in the last year. How have you managed?!

I have just had another look and it is the reciprocal balanced translocation of the 4 and 9 chromosome. It’s all a bit of a minefield. How is this not spoken more about given how many people potentially have it? We were told 1:250 couples have it! I suppose, if it’s just a miscarriage the NHS don’t do any checks and it’s just, “crack on and go again” from the doctors and it’s only when you have an anomaly at 20 weeks that they look into it. We had 9 scans (we had a bleed at 7 weeks and reassurance scans and a NIPT) with this baby girl and only 1 sonographer picked up we might have an issue which lead to the amnio and my diagnoses - at the time I hated that sonographer as everyone else was so positive, now I am so grateful but just wish her delivery had been slightly more caring.

My 12 year old (sadly but happily a mistake pregnancy from my youth!) is our hope that I can create a healthy child, as if I can have her with an arsehole surely I can have one with my amazing husband! I just feel slightly pressured as I am now 35 and worry that age won’t be on my side.

My parents are also upset that they might have passed this to me and when the right time comes way in the future we will have to discuss this with our DD as I may have given it to her.

Thank you again for messaging, it feels quite a lonely place at the moment.

[Grassisgreener99]

@happygolucky20 it’s a lot to take in for sure. I’m guessing you will be refused to a genetic counsellor and they will be able to tell you much more. Are you in the UK?
We have been told by the genetic counsellor and our FMU consultant that every time you have a positive pregnancy test it’s 50/50. I follow a Facebook support group and they believe it’s more like 2/16 - the group is a great source of information buy terrifying as unfortunately a lot of members have had a lot of losses under their belt.
But I always remember that it’s not us, we’ve had a healthy son and we can do it.
I think speaking to your genetic counsellor would help determine how likely you are to be able to carry an UBT baby again or whether your more likely to miscarry. Going through TFMR is so so hard - we can only do medicated so it’s a full birth and it’s the most difficult thing to get through. You need all the information to make informed decisions about where you go next!

How have I managed… I’m not really sure if im honest. I had bereavement therapy either our first but I think im in survival mode at the moment and determined to have a baby and give my son a sibling so will keep going as long as we both feel able.

We don’t know if our son is a carrier yet as we too didn’t know about my husbands BT until the loss of our first daughter- that was diagnosed at the 20 week scan then we had genetic testing.
My husbands dad has been tested and isn’t a carrier and we are currently awaiting for his mum to be tested. My husband really struggles with the thought of passing it on to our children but also has massively struggled to deal with the diagnoses and having to watch me go through it all physically and not be able to take any of it from me. He really also doesn’t want to be De Novo- where it’s something that’s happened at conception, rather than inherited. Did your parents have any losses?

Both our girls measured 6 days behind at 9 week scans and then kept dating back and back at each appointment so for us, this baby growing on track and ahead is a positive sign. We have to hold on to that hope until we get told to worry

IVF isn’t an option for us as we have a healthy son, we aren’t entitled to funding on NHS and we feel like remortgaging the house or getting ourselves in £20000 debt would directly effect the quality of life we give our son and we’ve always said we will never do anything that effects him directly through this hell! IVF is much more as you have to do additional testing for balanced translocations.

I completely understand feeling alone. No one truly understands unless they have gone through this my friends and family are supportive but literally have no clue what it’s like to give birth to a child you won’t have. Or see pregnant women walking down the street and it hurt your heart.

I think BT is much more common than you think but testing doesn’t happen until after at least 3 miscarriages / losses and also if you are fortunate to have children and not be effected by a loss you would never know you had it!
If my mother in law is a carrier then she had 2 children and no losses. It’s luck of the draw!