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Genetic testing for Balanced Translocation after baby loss

(14 Posts)
Grassisgreener99 Sat 15-Aug-20 21:03:52

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

OP’s posts: |
Pacif1cDogwood Sat 15-Aug-20 21:11:24

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

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 thanks

Pacif1cDogwood Sat 15-Aug-20 21:12:10

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

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

Grassisgreener99 Sat 15-Aug-20 21:22:25

@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.

OP’s posts: |
Pacif1cDogwood Sat 15-Aug-20 23:29:08

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 Sun 16-Aug-20 07:37:45

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 Sun 16-Aug-20 08:19:24

@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!

OP’s posts: |
Parkandride Sun 16-Aug-20 08:23:36

So sorry for your loss flowersDid 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 Sun 16-Aug-20 14:42:49

@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.

OP’s posts: |
Pacif1cDogwood Sun 16-Aug-20 15:25:23

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 smile

Grassisgreener99 Tue 25-Aug-20 13:21:31

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

OP’s posts: |
Pacif1cDogwood Fri 28-Aug-20 07:57:18

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 Fri 28-Aug-20 08:45:49

@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

OP’s posts: |
Pacif1cDogwood Fri 28-Aug-20 19:59:40

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 thanks

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