Chromosomal testing after missed miscarriage

[Downonthefarm]

Hi there,

Anyone with experience of chromosomal testing post MMC in the UK?

Husband & I need to go for a blood test this Tuesday in the early pregnancy unit of our local NHS hospital, after the baby we lost came back with foetal abnormalities. Will they only check us for the abnormalities they found on the foetus or will they run general genetic testing to see if we are carriers of other things causing us to miscarry previously?

Can I even ask them to do this? I’m imagining not as it’s probably costs a fortune?

This is our 4th known miscarriage, other 3 lost before 6weeks - I miscarried the other 3 at home.

Thank you xx

[Millbanks]

Hi lovely, so sorry to hear about your mmc

You can have a karaotype blood test done which checks all your chromosomes to see if you’re a carrier. I don’t know if they would do this as standard after a mmc, but it would make sense to have the full panel done rather than just testing for the trisonomy they found.

I think you need to ask them directly really ❤️

Xx

[Downonthefarm in reply to Millbanks]

Hi Millbanks,

Thanks for coming back to me. I’ve just read this on the NHS website:

“Karyotyping

If you've had a third miscarriage, it's recommended that the foetus is tested for abnormalities in the chromosomes (blocks of DNA).”

(This came back with Trisomy for chromosome 15 for us this week)

NHS website then says......:

“If a genetic abnormality is found, you and your partner can also be tested for abnormalities with your chromosomes that could be causing the problem. This type of testing is known as karyotyping.”

(I think this is the blood test we will have on Tuesday, but I’m guessing this would only be for Trisomy 15..as opposed to other chromosomal problems that just didn’t show up on our baby this time-sorry if this makes me sound really dim - I don’t know if all abnormalities should all show up every time or not ..!? I’m hoping someone out there knows, as the NHS gyne/on consultant we see on Tuesday, (I’ve seen her before) gets a bit impatient when you don’t understand what she’s talking about so ideally I’d like to have a good idea of the answers before I go in-if that makes sense?)

NHS website then goes into say......

“If karyotyping detects problems with your or your partner's chromosomes, you can be referred to a clinical geneticist (gene expert).”

(So I’m wondering again if this would only happen if either of us were carriers of Trisomy 15 only..?)

Sorry for the long reply, but I’m hoping someone out there will read this and know the answer....

Thanks so much

xxx

[Millbanks in reply to Downonthefarm]

I think that they will do the karaotype test to see if either of you have any genetic abnormalities, but even so this doesn’t mean that either of you will carry trisonomy 15 (I think). I believe you can have no known abnormalities yourselves but the embryo can develop one anyway.

For example my husband and I both had completely normal chromosomes but that doesn’t mean that our baby couldn’t be born with Down’s syndrome- I think!

This is just from the reading I have done, I’m not an expert by any means.

If either of you do have an abnormal chromosome then they would suggest to PGS test any embryos to check for that.

If your husband had a chromosome anomaly then I suspect they would create the embryos then test them too (if using donor eggs)

Sorry for the ramble, does that make sense? Xx

[Downonthefarm in reply to Millbanks]

Thanks Millbanks, that makes absolute sense.

So I guess that means they’ll check husband and I for everything, which is reassuring.

What you said re the problem being with the embryo alone backs up what I’ve read since. The older the eggs used, the more “mistakes” the embryo can make when it divides, so that would make sense, so I guess trisomy 15 is one of these.

Re the PGS testing on embryos, I’m guessing this checks for everything? Do you know how much it costs per embryo?

Here’s the NHS link to karyotyping post 3rd miscarriage if anyone else wants it: nhs.uk/conditions/miscarria...

Thanks so much

Xx

[Millbanks in reply to Downonthefarm]

Yes exactly, they’ll check your full panel of chromosomes 👍🏼And with PGS testing they will test all the chromosomes as well, unless there is something specific they need to look for.

I think our clinic charged £700 for the courier and storage, and then £220 per embryo…. Or something along those lines!

Much love xx

[Downonthefarm in reply to Millbanks]

Ok perfect, good to know - thanks so much Millbanks xxx

[Millbanks in reply to Downonthefarm]

Fingers crossed for you my lovely xx

[Downonthefarm]

Thank you xx

[Hidden]

Hi Downonthefarm, so I would imagine that this blood test is a karyotyping test which will basically look at the structure of all the pairs of chromosomes for you and your partner. It looks to see if they have a normal complement and have a normal banding pattern. So this means that they look normal (46 pairs) and don't have any translocations. A translocation means that part of one chromosome can be swapped and attached to another part where it shouldn't be. This can be a cause of miscarriage because when this translocation then pairs up with the other set of genetics from the other partner it causes a genetic pattern that isn't viable (not 46 pairs which is the norm, in your case, your beautiful embaby had 3 chromosomes in location 15 instead of 2) According to my clinic 1 in 200 individuals can be a carrier for these balanced translocations so it's not uncommon. If this is the case they can do PGT-SR testing which specifically looks for these translocations so don't panic if this is the case. Having said all of that and I hope I phrased it in a way that makes sense, the majority of the time, these chromosomal issues happen spontaneously when an egg or sperm just doesn't divide correctly just before they mature and subsequently don't pass on the correct number of chromosomes to the embryo. And you are correct this happens more as the person gets older too. I'm so sorry that you have experienced all those losses, the scientific explanation doesn't make it any easier to deal with but hopefully you will be closer to getting some answers. It's very frustrating that your consultant gets frustrated with you, genetics are a complicated area so get definitely call her on it and ask her not to rush through it and explain it again as it's really important for you to know what you're being tested for and what the results mean for future pregnancies.

[Downonthefarm in reply to Hidden]

Thanks axel13 - it’s a complex science and I feel like I need a degree in molecular genetics to get my head around it all. Thank you for explaining it, that’s been really helpful info. xxx

[Eternalwarrior]

Hello lovely,I am so sorry about all your losses. It is so hard 😢😢😢 We have had 5 miscarriages (including a late one at nearly 18 weeks) and we were offered karyotype blood tests on the NHS. We also had an autopsy of our baby boy and that came back normal. They also checked 2 of our other miscarriages but they couldn't find any chromosomal abnormalities.

So, although the karyotype blood tests came back normal for both my husband and I, they recommended that we did genetic testing (we did PGT-A) with our IVF embryos and we decided to go ahead with their suggestion.

I am not a doctor but what they explained to us is that if there was a problem with either my husband or my husband's karyotypes, we would need to do a more specific genetic testing for specific inherited abnormalities, which I believe can be for inherited genetic diseases or for inherited chromosome rearrangements?

Sending you lots of strength and hope you can get the answers you are looking for xxx

[Downonthefarm in reply to Eternalwarrior]

Hi Eternalwarrier, thank you very much. I’m so so sorry to read about your little boy, that is so sad and must have been very tough for you. Thank you for sharing and explaining your experience, I know it must be tough but it’s really helpful. I’m hoping Tuesday will be positive in terms of getting some answers from the consultant-gyne but it’ll be a few weeks before we hear back re our bloods, so will have to sit tight for a bit and see what happens. Then decide what’s next...

Thank you Xx

[Eternalwarrior in reply to Downonthefarm]

Fingers crossed for you! Xx

[Runcaptain]

So sorry for your losses. I listened to a great podcast about genetic testing which really helped spell out what happens in layman’s terms for each type of genetic testing, it really helped me get my head around what they can look for. Have a listen if and when you are ready to.podcasts.apple.com/gb/podca...

[Downonthefarm in reply to Runcaptain]

Thank you Runcaptain, I’ll definitely have a listen to that xxx

[Emma-92]

Hi Downonthefarm,I’m so glad I came across this post because my mind is spiralling. We too have been referred to ‘genetics’ from our recent MMC that came back as Trisomy 6 (which they’ve told me is very rare).

We’ve had 4 losses in total, one of them being ectopic resulting in losing my right Fallopian tube (they don’t count ectopic as a miscarriage, so only now have been referred to RPL clinic) blood work has been done twice and ruled out anything there. They think that the other miscarriages are very unlikely to have had Trisomy 6 (never say never) as it’s so rare. App with Genetics is next week, hoping to get the karyotype blood testing done. Could you update me on further information that you find out at your appointment? X

[Downonthefarm in reply to Emma-92]

Hi Emma-92, I’m sorry to hear about your losses, it’s heartbreaking as well as having to deal with an ectopic pregnancy.

I told my consultant from the fertility clinic about the results of the MMC and she said it was more likely to be a random error - which, because of my age (I’m 42), is quite likely the case. She seems to think the other missed carriages will be due to other random errors.

We went to the hospital last Tuesday, unfortunately however, the Obgyn consultant was isolating, so we didn’t get to see her. We did talk to the lead sister, who went ahead and took our bloods to kick-start the investigation to check our chromosomes.

She said she believes that this blood sample would be checked for everything, not just trisomy 15.

The blood tests will take 6 weeks to come back, so she said she’ll contact me in 5 weeks to arrange another appointment and we can talk to the Obgyn then.

We’re reluctant to start any more rounds until these results come back. We’re at a point where we’re considering donor eggs - I’m so tired of waiting and sometimes feel very fed-up with my eggs not doing what I want them to do - we’re 7 years in January. Having said that, I don’t want to jump into anything until we know free results (particularly if it’s my husband that is a carrier).

Hope you get some answers too. I didn’t know you could be referred to a repeated miscarriage clinic, could I ask who referred you, GP?

Thanks xx

[Emma-92 in reply to Downonthefarm]

Thank you so much for getting back in touch.It can make you a bit numb from it all, or that’s how I feel.

I’m glad you got the full blood work, that’s great. It’s unfortunate it takes so long for results but understand it’s a tricky process alongside covid.

I think it’s sensible to do so, although I get your frustration as time isn’t something you can play about with. Do you know if the donor egg process is a lengthy one or is it straightforward?.

It was when I was in hospital getting a D&C they told me that after 3 losses that it’s standard procedure to be referred to RPL clinic, so they referred me. That’s in the UK. I’m sure if you contacted your GP they would refer you X

[Downonthefarm in reply to Emma-92]

Thanks Emma-92. I’m in the UK too, but I’m guessing the referral to the RPL clinic is for natural pregnancies? (My miscarriages and recent MMC have all been through IVF.)

Re the donor, I think there’s a bit more pre-testing than with your own eggs, i.e.. genetics on all three parents. From what I’ve seen so far, there’s also a bit more paperwork involved than ivf with own eggs, before you actually get started. I’m doing my research on it and have a consultant appointment on hold with a clinic in Spain, so will see what happens.

Xx