Karyotype after recurrent miscarriage

[PurplePansy05]

Hi All

I had 3 MCs and were under the care of an RMC. Had all the usual tests which didn't come back with anything at all. DH was also tested privately, we have no known issues.

Pregnancy tissue after my 3rd loss was genetically tested and it came back inconclusive. It wasn't a baby as such since I had a blighted ovum missed MC at 13 weeks that time.

When I spoke to my RMC consultant she advised that we should try again and that most likely this was down to bad luck and that she's very confident that I will have a successful pregnancy. I had 3 losses in less than a year so there doesn't appear to be an issue with getting pregnant, more so with staying pregnant. Anyway, she offered that if we wanted to have karyotype test (DH and I), she could refer us. This, she advised, would show whether we have a genetic predisposition to MC but it wouldn't resolve any issues as such. At no point was I advised to wait with getting pregnant - on the contrary, I was encouraged to go ahead and I did.

I am 34, currently approaching 26 weeks pregnant with my son. I had NIPT privately, all usual NHS tests and scans, some extra scans both privately and on the NHS. My son appears to be absolutely fine which was a huge surprise and relief after what we've been through.

Suddenly, few days ago I receive a letter from the genetics team inviting us to call them to arrange the testing referred to by the RMC. I though ok great, no rush with this really because I'm obviously now approaching the third trimester so seemingly this time no issues with this pregnancy. I wasn't sure if they could even test me in pregnancy. So I called them thinking we'd probably arrange it for after I give birth.

I was then told, for the first time ever, that this testing isn't only relevant to first trimester recurrent miscarriage like I was told, but it could also show genetic issues we may have that could be relevant to my current pregnancy and it could show issues with my baby. No one has provided me with full explanation but having researched this online yesterday I understand this might be to do with checking for balanced translocation. At least this seems to be the only thing that makes some kind of sense in the light of what I was told.

I am absolutely beside myself that they've contacted me now after a year since the referral and when I'm nearly 26 weeks pregnant. I am also distraught that no one has explained to me that a genetic issue could affect what I thought is a healthy pregnancy, far further along than any of my previous losses.

I really do not know what to do. For clarity, we don't have any diagnosis ourselves yet or anyone in our family regarding translocation. No one in the family has been born with unbalanced translocation that we know of either. However, my mum had 3 MCs too and my brother was born sleeping with a missed diagnosis of hydrocephalus in the 1980s.

Like I said, all NIPT and scans look absolutely fine. But I now understand they don't check for the same conditions as genetic testing does.

I will be raising a complaint about my care because I find it unacceptable and neglectful that this testing was not offered earlier on in my pregnancy.

However, it doesn't change my position now. It's too late for TFMR if a serious issue is detected. I am guessing I'd need amnio beforehand anyway and with prior history of loss that is the last thing I'd ever want tbh. I don't think I could cope with carrying this pregnancy to term if I know in advance that this baby is very ill either. We are not in a position to provide specialist care that might be needed if the baby survives anyway, but that's a separate issue.

I really do not know what to do, whether to have these tests or not. DH is thinking everything will be great and our odds are good and he dumped the responsibility for this decision on me. I've emailed my consultant yesterday but she hasn't got back to me yet. They can fit us in for an appointment on Tuesday for the tests and said the results would take 2 weeks. Ironically they'd "speed them up for me because I'm pregnant". Shame they didn't think to do that in the first trimester.

Does anyone have any words of wisdom?

I don't know what I expect, I need to get this out of my system because I'm so utterly distraught. As far as I understand translocations are rare and especially unbalanced ones are, but nevertheless they do happen and we just don't know if we're carriers or not. With the history, it would seem though that I might well be a carrier.

I just can't cope with the thought my baby might die soon or be incompatible with life after everything, for once, seemed to go fine. It's such a huge shock I am floored today. I've barely eaten, didn't sleep last night and I've been in bed most of the day thinking what on earth has just happened to us.

Thank you for reading . xx

I completely agree, Ethel. I understand this would be a blood test but as I said earlier today, in case it does show anyting, I know I'd have to have amnio for peace of mind, and I really, really do not want to have it. So I think I'll have to leave these tests completely till after I give birth. But as you say, I need my consultant and soon, I need to have a sensible conversation because life has become suddenly very difficult for me. The genetics team caused me so much grief and worry with their delays, attitude and lack of transparency that I can't even express that. xx

@PurplePansy05 I would say those ups and downs sound absolutely healthy and normal for what you’re facing. Please be kind to yourself and reach out if any of us can help x x x

@PurplePansy05 sorry to hear this state of unknown causing stress is affecting you as well as your relationship.

My husband is the same, everything will work out type guy. When we were going through all our testing he was very chill, which has its benefits as well. Two over reactors aren’t ideal either.

Regarding feeling better. I had the same swings. I’d read something and feel good and the next day I’d read something and feel horrible. Additionally I found towards the end I’d worked through the emotions of grief and fear etc etc that it wasn’t so drastic of swings.

When do we get results?

I haven't had the tests.

Still waiting for the consultant to get back to me. Spent my morning chasing her and getting nowhere, didn't expect anything better tbh. xx

If anyone is reading this thread and finds themselves in a similar position to me, I though I'd post an update.

I spoke to my consultant, finally, after nearly 3 weeks. She was very dissatisfied with how the geneticists approached this with me and explained that they scared me unnecessarily. She apologised on their and her behalf because I was not given sufficient or accurate information that was relevant to me, my son and based on our individual history.

As I've learnt now, and very much in line with what some of the ladies said earlier on this thread, context is everything. And without it, you can get very worried and scared, and rightly so, very easily. However, once the information is put into context relevant to you and your pregnancy, it isn't necessarily all that scary.

So if anyone reading this has a history of recurrent MC, here is what you need to know. Unless you or your partner have known family history of balanced translocation, the likelihood one of you is a carrier and that it is linked to your recurrent MCs is 2%. IF one or both of you are carriers (which karyotype test can show), it is then the case that indeed between 25 and 50% of babies may be affected by an unbalanced translocation IF this is how they inherit it from one or both of you. The tricky thing is that you never know how they might inherit it - balanced (not an issue), unbalanced (issue), or they might not inherit it at all. But these are your stats on day 1 of your pregnancy. With every week, positive normal scan, low risk NIPT results (particularly the likes of Panorama which test against a wider range of conditions than the NHS NIPT) and of course for definite with CVS or amnio if you wish to go down this route, your baby's chances of being fine, i.e. either not inheriting the translocation at all or inheriting it in a balanced way which wouldn't be an issue for them, dramatically increase. My consultant told me very clearly that a severely affected baby would have been miscarried or would not have made it to my stage of pregnancy without any issues being identified at all. She said in her 20 years career, she never came across a live birth of a baby with unbalanced translocation that would not have been picked up on or suspected during the pregnancy. It would be common for babies that are affected to have issues with their physical development and/or growth restriction that would be diagnosed. Of course, there isn't such thing as 100% certainty with any pregnancy, however, I think it is VERY important for those of you who have a similar history to mine to understand how it might affect you. If you are ever put into this kind of position, please talk it through in detail with your consultant. Unfortunately, I had to wait 3 weeks for this which were very difficult for me. But this is the best thing you can do as only then you can make a decision for yourself and your little one regarding the testing.

If anyone reading this is also freaked out that these tests may show billions of conditions or predispositions that you don't want to know about, please don't be worried. Karyotype does not show a predisposition to cancer in parents, or the likes. If your RMC refers you, they will test for translocations. Please do talk through any such referral in detail and ask about the scope if you are concerned. Again, this has never occurred to me when I was referred and no full explanation was ever provided until now.

To sum up, we decided not to have the tests now. My instinct is that my son is fine and whilst I will never shake off the negative thoughts they've brought to my attention now, I am not going to give in to them either and I am hoping that my baby boy is ok.

Thank you all for your support at what was a really awful moment in this pregnancy that I would not wish on anyone.

28 weeks today, 12 to go. Let's hope for this rainbow to arrive safe and healthy 🙏🌈 xxx

Hi @PurplePansy05, please let us know what happened later! I just came across this thread after a BO myself and I am hoping all went well with your baby.

Hey @cookie222018! I'm so sorry I haven't updated on here. My DS arrived safely a week and a half before his due date, via CS. He is healthy and is a lovely little man and I am counting my lucky stars he is finally here with me. The situation I've talked about on here had a huge impact on the rest of my pregnancy and on how I'm feeling now in terms of my MH however. I am awaiting therapy at the moment and I'm very upset deep inside about it all. However trying to get better for my little boy and I hope one day I will be back to my normal, upbeat self.

Thank you for asking and hope you're ok 🙏 xx