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Conception

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Testing Miscarried foetus for chromosome abnormalities?

38 replies

Cafeaulait27 · 14/10/2020 17:33

Please do not read on if you are triggered by miscarriage

I had an early miscarriage today, i was 9 weeks but the foetus was measuring 6 weeks. I was told there was no heartbeat last week and that I might miscarry.

I finally passed it this afternoon after some unbearable pain, and I managed to fish it out of the toilet. It’s like a clear bubble with the baby floating in it.

I called my triage number and asked if I could have it tested, I said I know I haven’t had recurrent ones (this is my first) but I would be happy to pay to try to find out if it was a chromosome abnormality or if it is pointing more towards an issue with me.

She said someone will call me tomorrow because she wasn’t sure, but that testing might not be possible if the foetus is this small. Is that right?

I wondered if anyone here has had tested before and could help advise what happened when they got it tested and whether they know about how big it needs to be.

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Cafeaulait27 · 15/10/2020 11:25

@Daffodil21 ah thank you for advising. I’m already on metformin which I’ve heard can help (as well as regulating cycles) which was prescribed by a private endo as surprise surprise I got nowhere with nhs!

I will definitely bring up those other treatments. I’ve got an appointment with my nhs specialist next week over the phone (who I got referred to eventually to help us conceive as I wasn’t having periods at the time, we were on the waiting list for clomid) and if that doesn’t work I will try the private fertility specialist I’m seeing in two weeks time.

I just spoke with someone at EPU and they said they wouldn’t test it, but she hugely sympathises with my situation especially when I told her about my mum having 4
Miscarriages. She asked if my mum knew why that was and I said no (30+ years ago they didn’t seem to do any analysis) and she said I should use this to push for further tests on me to prevent it again. It seems she did agree that it isn’t fair that it has to be 3 before they act on it xx

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Cafeaulait27 · 15/10/2020 11:18

@StargazyDrifter 100% everything you said!!

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StargazyDrifter · 15/10/2020 11:02

On PCOS, I also have this. It certainly seems a given that there could be/could be more miscarriages. Again, just accepted as fact and the routes to fining an answer are really tricky. 😞

StargazyDrifter · 15/10/2020 10:57

I agree with both of you, Cafe and RedVelvet. It’s not “just a thing that happens”, it’s under-funded and under-researched and that’s why we don’t know. Makes me so cross because it doesn’t need to be that way.

I have had a chronic bone problem since childhood and never, ever have the doctors seeing me shrugged and said “well it’s just a thing that happens” - there are answers, metrics, guidelines; largely thanks to huge amounts of time and money poured into bone and limb problems after WW2. Yet, with women’s health it’s all too often shrugs and mysticism.

I’ve written about this to the MP committee that looked at a child’s first 1000 days (from conception). I’ve also ranted at EPU doctors, who privately agree. They rightly say that this research is picking up, albeit very slowly and more pressure is needed. I even went as far as finding a miscarriage study, getting the study lead to include me and stumbling at the last hurdle of my GP failing to ever send her the right paperwork. 🙄

Daffodil21 · 15/10/2020 10:47

You can have metformin (and probably others things too) to help support a pregnancy with PCOS. I'm currently pregnant after 2 MCs and have gone private as I refuse to go through it again if I can avoid it before I get any help. I had an online video appointment with a specialist and they prescribed me metformin, clexane (blood thinner), cyclogest (progesterone), prednisolone (immunity suppressant in case of natural killer cells, although during a pandemic is not the best time to be taking this!) and high dose folic acid.

So there are things you can do without having to wait for three x

Cafeaulait27 · 15/10/2020 10:47

@sunshineandhappy I completely agree with you on all points there.

I just want to try my best to find out - could this baby have survived if I’d been on some kind of treatment or was it just a chromosome abnormality?

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Cafeaulait27 · 15/10/2020 10:45

@RedVelvetDreams yeah this is the thing that annoys me, on Tommy’s website it says miscarriage is often brushed off as ‘It wasn’t meant to be, these things happen’ etc when actually there is always a reason why it happened and it should be investigated. Yes there are issues with funding in the nhs - but is funding correctly distributed at present? Or are women having miscarriages unfairly given less funding? I lean towards the latter...

I’m sorry for your loss xxx

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Cafeaulait27 · 15/10/2020 10:43

Yeah I think it’s just that if it was to be tested and came back with a chromosome abnormality, I could move on and try again without worrying so much. But if this one turned out to be normal, I would know that it was most likely something to do with my body eg progesterone, sticky blood etc etc. I also have pcos which is sometimes listed as causing miscarriage but there doesn’t seem to be much info as to why. No one has called me yet so I’m just waiting.

I think it’s also that my poor baby is currently in the fridge. I don’t want to flush it. But I know if o bury it the foxes will dig it up. It’s all really sad and traumatic, I just want to hold on to my little baby ☹️

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RedVelvetDreams · 15/10/2020 10:41

I've been in your situation, unfortunately you epu told me that no testing was available as "these things just happen"

I was traumatised about having to flush it away as if it was nothing.

Cafeaulait27 · 15/10/2020 10:39

@LifeBeginsNow is it that one at 10pm? I think I might record it even though it’ll probably be upsetting... thanks for sharing xx

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CatteStreet · 15/10/2020 10:31

As someone who has had six miscarriages interspersed with three full-term pregnancies, had various investigations including genetic testing of one miscarried foetus (it was a chromosome issue that is rare in itself but common among the rare ones iyswim) and karyotyping due to suspicions of a balanced translocation (none found), I think the considering your mother's history it may be worth pushing for investigations - not necessarily testing of the miscarried foetus (because all that tells you is that there was (or wasn't) a chromosome problem present in that particular pregnancy) but certainly an appointment with a geneticist. It never became entirely clear, btw, why I'd had mine - clotting issues were found but this was after I had already had two babies without those being treated, so while they were treated in subsequent pregnancies (with both mc and a live birth as results), the evidence for a 'cause' really wasn't robust. I've found miscarriage to often have a frustrating and upsetting lack of rhyme and reason. After one mc, all other things being equal (and this may be the case despite your mother's history), the chances of the next pregnancy continuing are barely impacted. I'm sorry you went through this and would certainly consider routes to investigations - perhaps talk to your mother first, if you can, about whether she ever gained any information as to why it might have happened to her -, but try not to assume that they will definitely give you definitive answers, nor that this will necessarily happen again and again.

sunshineandhappy · 15/10/2020 10:21

I've checked the national testing directory and it does indeed say 3 consecutive pregnancy losses, but as a geneticist I would say this is not scientifically sound. If there is a familial rearrangement it is quite possible to have normal pregnancies interspersed with chromosomally unbalanced ones.
On the other hand, our local specialist consultant always says a normal result is just as useful to her, as that may indicate a different reason for the recurrent miscarriages, which may have a treatment option, whereas a trisomy just tells you the reason for loss of that particular pregnancy.

Mishmased · 15/10/2020 08:05

So sorry @Cafeaulait27 sending you lots of strengthThanks

PrimeraVez · 15/10/2020 07:55

Really sorry this happened, it is truly shit.

I had a miscarriage at what should have been 10/11 weeks but in reality, I think the fetus had stopped developing a while before that, although I did see the heartbeat on a couple of very early scans.

I'm not in the UK and had a very expensive, fancy OB/GYN who would have known that I would have thrown money at anything she suggested. I asked her if we could do some testing and she was very dismissive of the idea and said it was very sad, but when you thought of all the millions of cell divisions etc that had to happen to grow a healthy baby and realised it could just take one minute thing to throw it all off, the chances were that testing wouldn't reveal anything useful.

I was fortunate to fall pregnant again shortly after and carry to term very uneventfully. I hope the same for you.

hyglop · 15/10/2020 07:44

I would ask your mother to have her chromosomes checked: she meets the criteria for investigations.

LifeBeginsNow · 15/10/2020 07:33

I wonder if that's a location based thing sunshine.

After my miscarriage the other week, I was clearly told any investigation would happen after 3 consecutive miscarriages. As I've had one, then a child, then another miscarriage it wouldn't count as 2 and the counter would be reset.

There's a channel 5 programme on tonight about this. It looks pretty upsetting but sometimes it's good to talk about these things and they may discuss why this can happen.

Cafeaulait27 · 14/10/2020 22:40

@Parkandride thank you! How are things going for you?

Wow - that is expensive. Maybe we won’t be paying for testing... but would be good to know how much it might be just to rule it out I guess if anything.

Ok thanks, I have heard of it starts with the egg but I didn’t know what it was! Thank you I will look it up xxx

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Parkandride · 14/10/2020 22:14

I'm so sorry. I don't know anything about the specifics of private testing in this circumstance but I had embryos screened, and it's around £3k on top of ivf costs. Of course that's on microscopic samples and I have no idea how it compares to your situation but it could be a lot.
The book It Starts With The Egg has great advice for maximising your egg and sperm health to avoid genetic issues, I'd put your money into supplements and lifestyle changes recommended there.
Good luck Flowers

sunshineandhappy · 14/10/2020 22:03

There is no way to be sure without testing cafe, but literature quotes a chromosomal abnormality rate of 50-70% for losses like yours, and mostly those will have arisen spontaneously, ie nothing that you have done or passed on.
I hope this helps. X

Cafeaulait27 · 14/10/2020 21:35

@sunshineandhappy I’m sure you can’t tell me much just from my descriptions, and please don’t worry if you don’t feel comfortable, but in your opinion what do you think might be the cause? Everything was looking normal and there was a heartbeat at 6 weeks, but it was a little small. It continued to grow from 2.5mm to 5.5mm but then stopped. Do you think it might just be chromosomes or is there no way to know without testing? Xxx

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Cafeaulait27 · 14/10/2020 21:28

@HibiscusNell thank you ❤️ I know that early miscarriages are common, but I don’t really want to go through it multiple times before any investigations are done. I know you’re probably trying to be reassuring, but I wouldn’t ever think it’s ‘normal’ to have a miscarriage.

I figured if I have the foetus with me I may as well see if it could be tested. I’d do anything to not have to go through this again. I just want to do anything I can to help reduce my risk next time, wouldn’t anyone?

I think it’s bothering me more because it looked so healthy on the scans and normal, it was just smaller. And it had a heartbeat at first. So it makes me wonder if my body did something to stop it from growing... I don’t know. I just feel like I want to do the right thing for this baby and hopefully future pregnancies by finding out as much as I can ❤️

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sunshineandhappy · 14/10/2020 21:24

Early miscarriages are normal if you mean sadly, common. However often they are not chromosomally normal. This doesn't mean it is due to an issue from one of the parents, just that during the first few cell divisions that something has gone wrong, meaning the baby won't survive past a few weeks of pregnancy.

HibiscusNell · 14/10/2020 21:20

Sorry I cross posted with your last posts.

sunshineandhappy · 14/10/2020 21:20

The three losses do not have to be consecutive. Recurrent means keeps happening, not necessarily consecutive. It is quite possible to have normal pregnancies but miscarriages before between or after, and you should still be able to have investigations.

HibiscusNell · 14/10/2020 21:19

Is there a reason you are worried about the possibility of chromosome abnormalities? Early miscarriages are upsetting but they are very normal.

Hope you are feeling ok.