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Miscarriage/pregnancy loss

Anyone had chromosomal screening after having more than one miscarriage?

14 replies

ZigZagZog · 08/02/2009 10:47

Hello everyone I wonder whether you can help..... in the last 5mths, I have had two mmc, both discovered at 12wks. The first embryo measured about 6wks and the second about 11wks. I know that the 'magic' miscarriage number is 3, with regards to being referred for tests and so on, however I'm not sure that I want to endure another miscarriage again before seeking medical advice. I am 41yrs old and have two dc.

So, I'm wondering about whether to go for chromosomal screening to find out some information about our genes. I'm guessing that you give blood and then a karyotype analysis is performed - but this is just supposition. Has anyone actually been down this road and if so, what does the testing involve? What can it reveal/what are its limitations? How long does it take to get the results back? and so on...I would appreciate any insight into this type of testing.

Many thanks in advance.

OP posts:
rubyriley · 08/02/2009 15:30


Sorry to hear about your MMCS There may be others on this thread who will answer you more fully but I may be able to give you a small insight.

I too am an older mum at 44, 2 DC's & 1 TOP at 14 weeks late 2007 due to a bad CVS result. I'm 18 +4wks now having had a normal CVS result(no triple screening this time, but straight for the CVS as considered high risk due to my age) The baby's chromosomes have been fully karyotyped and no major abnormality has been detected (though I received the usual disclaimer that minor ones may be present )

As I understand it, above the age of 35, and certainly from the age of 40, our risk for chromosomal abnormalities is ever increasing. I was still told, however, by my midwife that lightening shouldn't strike twice, I'd be very unlucky to have another affected pregnancy. And I'm on that slippery slope towards 45 so far as fertility is concerned. So, whilst I understand your concerns and horror at you recent experiences, is it very unlikely for this to happen x3? Or are our risks increased due to our age and so we're much more likely to miscarry as a result of abnormalities. I think I would be asking my Dr these questions.

I hope I've been some help xx

Mummyfor3 · 08/02/2009 15:44

Hi ZigZag,
sorry to hear about your losses.

I asked to have chromosomal screening done after 2nd MMC as I was already over 35 at the time. Yes, it involved blood test from me and DH. I also had ERPOC (a D+C essentially) after each loss, mainly because I did not want to wait for things to come away on their own, but also because it ment the tissue could be sent for genetic testing.
In our case it turned out that I do carry a problem (a balanced translocation), but that this had not been the cause for the MCs, infact, one of the pregnancies was entirely healthy - do not know what was worse: to be told mced normal pregnance, or mced one with Edward's syndrome, IYKWIM. Anywhooo, I had further MMC after my diagnosis, again nothing to do with translocation - then had 2 DSs in quick succession, further MMC, then DS3 - all healthy .

We had very good genetic counselling from a Clinical Genetisist which helped an awful lot. Very best of luck to you. Hope it all turns out well for you.

Mummyfor3 · 08/02/2009 15:51

ZigZag, sorry, I just reread your OP and realised I really did not address your questions :

Yes, as age is an issue, do ask for testing/counselling.
I cannot remember how long it took for results to come back but it was a matter of days and seemed quite reasonable at the time. I was shellshocked at the time and appreciated that we got counselling v quickly after actual result.
Limitations: you are right, it is a karyotype that is done, so chromosomal abnormalities picked up, but not more complex stuff, ie conditions that are not related to number/shape of chromosomes.

You should probably not restrict yourself to genetic testing but ask for referral to a "Recurring miscarriage Clinic" to have full set of tests done. This is not unreasonable after 2 MC and at your age - sorry to harp on about it, but am in same boat, and unfortunately Mother Nature does not pay any attention to our sensibilities...

Having said all that, you do have 2 DC so have already proven that your body CAN do it .

pecanpie · 08/02/2009 16:03

don't know how correct this info is but wanted to respond. The normal route is to test the miscarried baby to see if there's any chromosomal problem and then follow up with karyotype analysis on the parent's blood to see if it is genetic. In theory though, this only increases the chance of miscarriage from 1 in 5 to 1 in 4, although like you, I have also had 2 mmcs in a row after 1 dd.

Have you spoken to the miscarriage association or Tommy's who probably have more info on this and might know someone you could speak to.

ZigZagZog · 08/02/2009 16:28

Many thanks for your replies.

ruby : yes, I realise that age will be playing a factor and I know the stats (unfortunately) but my question comes from the POV of wanting information 'ahead of the game' - i.e. ahead of having a 3rd mmc.

mummyfor3 : for so many losses but it's great that you did go on to have a big family! I have had two D&Cs and was told the tissue would not be tested in any way. I wasn't asked whether I would like it to be tested either. Too late now. I wasn't offered any counselling either, just handed a leaflet the first time and some painkillers but neither of these items after the second time.

At the end of the day, I just don't know whether we should just go for it and try one more time (this is dh's preferred course of action) or whether to get some testing done - so that if we were told that due to our genetics, we have a 1 in (insert low number here) chance of any conception carrying a fatal chromosomal combination, then I could make an informed decision about whether to chance another mc. But mummyfor3's mc of a normal pg (when a chromosomal problem had been previously indicated) makes me wonder...

Thanks pecanpie for your reply, perhaps I will call the MA and find out whether they can help.

OP posts:
Mummyfor3 · 08/02/2009 16:48

ZigZag, yep, sadly a lot of things you might want to have done, will only happen if you explicitly ask for them... not good at a time when you are probably busy feeling distraught .

Yes, MA and Tommy's are good for further support and info. I also found this helpful.

Bottom-line, IMO, is, that making babies is a miracle and there are lots of things that can, and sadly at times, do, go wrong. It is actually quite amazing how often it goes right .

Woooozle100 · 08/02/2009 17:00

hi zzz

I have had a karyotype following a blood test (me and dh) and like mummyfor3, it showed balanced translocation. This test was done because of abnormal chromosome results in my dd1. I'd had 2 mc prior to that

I think it would be likely that you would have to have this test privately. All in it would probably take about 6 weeks (that is the turnaround time for non urgent cases where I live) That would be from blood test to meeting with Geneticist / Genetics Counsellor to discuss / receive results (though perhaps this wouldn't be neccessary if results came back as normal.

Regarding what these results would actually mean to you in ttc - obv if ok you would have peace of mind but if the other way it will just be question of offering pre natal testing in future pg. Obviously it depend on what yr karyotype is but in my experience they don't tend to be too concrete in telling you what it means in terms of statistics / what effects it would have on child. That''s because it really is pretty impossible to say. Overall, it throws up more questions than providing ant answers, if that makes any sense

TwistinMyMelonMan · 08/02/2009 17:17

hi zzz

sorry to hear about your losses

i am sure age does play a factor in things but i am not sure that any translocations could be connected to age, i thought you are what you are whatever the age,

i feel that age and any translocations are two seperate issues,

i had testing after 3 mc and no dcs,

it was bloods for me and dp,

results were clear,

there are other more common reasons for mc,

are your dcs your dhs?

i found this website really good for helping me understand read here

it is hard going but if you go down to the bottom of the page and go though the related links in order it helps to piece it all together, start with 'what is a chromosome'

wishing you all the luck if you ttc again

ZigZagZog · 08/02/2009 17:51

pixie : yes, I was thinking of a private test, simply to avoid a potential NHS wait of half a year or more. I've actually found a local clinc that appears to offer chromosomal screening but my dh isn't keen on their prices and tbh, I'm not either!!! But yes, I totally agree, depending on the precision of the results, we could be left with more uncertainty than we have currently.

twisten : Sorry for your three losses. I agree that genetics are separate from age (or at least, that is my understanding). My dc are my dh's. Thanks for the link too, it was interesting and it answered a question I had about how a trisomy happens.

At the moment, I just can't decide between just having another go at ttc and letting nature take its course or having some form of chromosomal testing done.

OP posts:
Woooozle100 · 08/02/2009 22:18

oh I'd just get on with it. If you really want another child yr going to have to ttc, chromosome test or not. pgd not as good as it sounds - rather low success rates that drop the older you are.

fwiw my cousin was in this situation cos she had had 2 mc and in the light of my results they offered to test her. She was early pg at the time so was v agonising for her waiting for results. Came back ok and her pg was successful. Obv outcome would have been same regardless of test

Sometimes I wish I was ignorant of the fact I have BT. Its shit.

And anyway - its rather a big leap to suspect you have chromo issue when you have had 2 mc and 2 dc. Most likely scenario is you haven't and it was just shit luck. That was certainly the case for most of my chums on the pg after mc thread.

All the best in whatever you decide

ZigZagZog · 09/02/2009 11:47

pixie - you are of course, absolutely right, there is no getting away from the process of ttc so I guess we may as well just throw our hat into the ring and try again! Thanks again for your messages, they were all useful.

OP posts:
TwistinMyMelonMan · 09/02/2009 13:04

good luck

all4us · 09/02/2009 13:33

Hi, I had it done with my husband, It came back ok, to be honest though I have no idea what they did or how they did it...but it involved (for me anyway) giving quite a bit of blood..

We have had 5 miscarriages, each one just before 8 weeks

We have had loads of tests done and each has come back go for the this moment id do almost anything to find the answer...

good luck


TwistinMyMelonMan · 09/02/2009 18:39


have you had nk testing?

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