Testing Miscarried foetus for chromosome abnormalities?

[Cafeaulait27]

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.

So sorry @Cafeaulait27 sending you lots of strength

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.

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.

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

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.

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 ☹️

@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

@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?

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

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. 🙄

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 100% everything you said!!

@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