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Karyotyping revealed Triploidy - could it happen again?

(10 Posts)
digitalgirl Mon 13-Jun-11 11:47:55

I've just received the Karyotyping results on the baby from my last miscarriage and was wondering if anyone has had similar.
The report says abnormal female with Triploidy. Three copies of chromosomes 13, 18, 21 and the sex chromosomes (XXX) present.
Then goes on to say although the recurrence risk is low, prenatal diagnosis may be appropriate for future pregnancies.
It was my fourth miscarriage - after the third I had all recurrent mc tests which came back clear. But I didn't have them karyotyped so will never know if it has happened before.

After my erpc I went to see Mr Shehata who diagnosed me with high nk cells so I'm now on steroids from ovulation while we ttc.

Should I be seeing a genetic counsellor? Does anyone know the actual statistics of this chances of this happening again? I mean I'm already in the 1% of women who suffer recurrent miscarriages.

Don't really know what to think.

EggletinaClock Mon 13-Jun-11 12:23:28

Sorry for what you're going through digitalgirl. I'm sure somebody will be able to advise you better but I have been told by my consultant that anybody who has lost a baby to a chromosomal disorder of any type (unless they carry a translocated gene) has a 1% risk of ANY type of chromosomal disorder recurring. This is regardless of maternal age. I have been told that if I get pregnant again we will be offered a CVS at 11 weeks to ensure there is no recurrence.
From what I understand about translocation, if you are a carrier then there is a 25% recurrance rate. You need genetic tests of both partners to identify whether one of you is a carrier but this is apparently very rare.
I found ARC to be very helpful on this stuff so perhaps give them a ring. http://www.arc-uk.org/
Good luck
x

digitalgirl Mon 13-Jun-11 13:08:32

Thanks eggletina. We've had our DNA tested and neither of us carry balanced translocations. So that's a relief. I'm just worried that this was my fourth mc, I'll never know if the previous mc's were down to genetic problems - but could it be down to mutated sperm, DHs sperm analysis came up borderline in count and amorphism? We have one ds who is nearly three.

What kind of testing will they do at 11 weeks?

digitalgirl Mon 13-Jun-11 13:10:10

Sorry I've just reread you said Cvs at 11 weeks. Is that less risky than amniocentesis?

EggletinaClock Mon 13-Jun-11 13:53:33

From what little I know I think it's slightly more risky than amnio (perhaps 1.5% chance of causing mc compared with 0.5%) and slightly less accurate (perhaps 98% compared with 99.9%) as they take the cells for analysis from the placenta not the amniotic fluid and I think there's a difference.

However, they can do CVS at 11 weeks with full results by 13/4 weeks whereas amnio is at 14 weeks with full results by 16/7 weeks. I had a termination at 22 weeks this time and will do anything to avoid a late termination again, despite the increased mc risk.

Most people would have a nuchal fold scan at 12 weeks and depending on that and the corresponding blood tests, decide whether to proceed with a cvs or amnio. I did that this last time and screened low risk for everything, so had no further tests, yet my baby turned out to have Edward's Syndrome (always fatal) and it was only identified at the 20 week scan. I will never be able to have any faith in nuchal fold screening again. It's important to distinguish between screening and actual testing and when you've been the one in 1:4000 or whatever it radically changes your view.

My consultant said that many people who have had a previous chromosomal problem go straight for testing rather than screening because of their previous experiences. However, it's a personal decision and I can see how with a history of miscarriage you might not want to take the chance.

EggletinaClock Mon 13-Jun-11 14:03:37

My consultant said that in practice there's a risk of about 5% for miscarriage after a cvs, this is a combination of your 'background' risk for mc at that stage which she said was about 3%, plus the increased risk from interfering with the pregnancy through the cvs rounded up to 2%. That still means 95 out of 100 people who have tests don't have mcs though. It would be well worth asking whether people with a history of mc are at increased risk again from cvs or amnio as if it was even higher you might decide that a 10% chance of mc was too high when compared to a 1% chance of a chromosomal problem.

It's an awful decision to have to make though and I suspect that once you've been in the position of repeated mc or termination you can never be relaxed about a pregnancy anyway.

digitalgirl Mon 13-Jun-11 14:18:14

Thanks so much for the info. Yes, you're not wrong about never being relaxed about pregnancy ever again. sad

I have an appointment at St Mary's coming up - perhaps they'll advise me on my chances of miscarrying with ante-natal tests. Otherwise, which consultant did you have to advise you on this?

I have one at my local hospital who is part of the epu and gau. But I also see Mr S who is a private consultant specialising in recurrent mc. I guess I should set up an appointment with him soon.

EggletinaClock Mon 13-Jun-11 16:02:31

Do you mean St Mary's in Manchester? That's my local hospital so I'm under one of the obstetric consultants there and that's who's given me all the info so far. The private specialist sounds like he'll be useful though. I've found it reassuring to know exactly what will happen if I manage to get pregnant again, know all my options before it happens and so on.

digitalgirl Tue 14-Jun-11 14:33:55

Sorry, I meant St Mary's in London. It's the biggest recurrent miscarriage clinic in the country - although they're rather conservative in their approach. Hence why I went private.

Fingers crossed for the both of us

EggletinaClock Tue 14-Jun-11 18:23:33

Ok, I won't bombard you with info about the wrong St Mary's then! I hope you get helpful information and yes, fingers crossed...

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