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Karyotyping (of would-be parents) - anyone done it?

(17 Posts)
BipBippadotta Tue 08-Dec-15 16:07:28

After 3.5 years ttc, including 1 full term stillbirth & 2 mmcs, I'm trying to work out whether it's worth bothering with IVF or whether we should throw in the towel.

My dd who was stillborn had no chromosomal abnormalities; mmc1 was trisomy 16, and I'm waiting to find out about most recent mmc. My hormones are all fine. DH has poor morphology.

I have a feeling that one or both of us are genetically not quite as we should be - this is based on nothing really, apart from our repeated losses and an increasing sense of despair. If it turns out we are hopelessly mutated then we will stop trying.

We've booked an appointment to have our karyotypes tested, but I'm not sure what I'll find out & whether it will be helpful.

My worries are: what if there is something a bit odd but not disastrous, like balanced translocations, microdeletions, etc, that could derail future pregnancies but equally might not, or that weakly correlate to a range of poorly understood health & developmental disorders? How would we decide what to do based on that?

I suppose I'm wondering if anyone else had has this done, whether they found anything useful out, and whether they had any idea how to act on their findings.

If you found out you were not chromosomally typical, was that a hurtful discovery?

Any experiences? I'm trying to find a balance between my desire for information & my sanity.

BipBippadotta Tue 08-Dec-15 17:17:20

Anyone for any karyotyping experiences?

nobeer Tue 08-Dec-15 17:30:27

Yes, we were before either first or second ivf cycle. The tests came back normal so can't give you much more info I'm afraid.

Luxyelectro Tue 08-Dec-15 17:37:55

Yes. I was many years ago after multiple miscarriages

Nothing was found

However - more recently found a genetic issue with me that wasn't found on the tests. They can't test for everything.

BipBippadotta Tue 08-Dec-15 21:40:18

Thanks. Huh. That's disappointing that a full karyotype can miss things. Crikey. Seems like this could possibly be a massive waste of ££.

Tryingno1 Wed 09-Dec-15 19:06:37

Hi bip. I was tested after my 3mc. Nothing found. The nhs will do it for u. If it shows something u can do Ivf with pgd to check the embryos don't have anything. Push for a referall to a rmc clinic and get a whole lot of tests done . Bear in mind most people are "unexplained". But important to do incase something needs treating.

Xx

Duckdeamon Wed 09-Dec-15 19:16:53

I'm very sorry for your losses.

We both had kareotyping on the NHS due to miscarriages, nothing was found. The tests are quite pricey privately. Don't think there was any particular treatment if there is anything unusual.

Wishing you well whatever you decide to do next. flowers

Chrisinthemorning Wed 09-Dec-15 19:20:56

Have you looked at array cgh icsi- we had one mc and a tfmr for trisomy 21, plus multiple fertility problems. When we decided on IVF we paid to have the array cgh for reassurance and it worked. He's 3.5 now. Look at Care website for details
Good luck

Tollygunge Wed 09-Dec-15 19:21:27

So sorry for your losses. I've had 4, including two late term. However, I also have a healthy daughter with the same partner. I have so far rejected karotyping as I know I CAN have a healthy child- I just need the right egg. I also think that the karotyping of it came back positive would just make me feel defeated. I plan to keep on trying until either I get lucky or too old or can't do again. Even if it is genetic we've been told we have 60% chance of it being ok X

Tollygunge Wed 09-Dec-15 19:22:51

I'm currently on clomid to improve egg quality

Reasontobelieve Wed 09-Dec-15 19:30:08

We had this after three miscarriages but nothing was found. At the time it gave me reassurance, as I knew that at least two of the pregnancies were lost due to chromosomal abnormalities and the fact that the tests were negative, indicated that the abnormalities were random. I went on to have a healthy pregnancy.

BipBippadotta Thu 10-Dec-15 08:09:04

Thanks everyone, and I'm so sorry for your losses.

GP won't refer me for tests until I've had another mc (full term stillbirth counts as a 'successful pregnancy', apparently). So I'm going privately.

Was planning on doing PGS if we do IVF - but before spunking tens of thousands of ££ on treatment I thought it was worth checking that DH and I don't have any massive chromosomal problems ourselves that mean it's unlikely we'll produce any viable embryos.

It's not that I'm hoping to find any sort of treatment - I know there's nothing you can do about chromosomal issues. It's more that I want to make an informed decision about whether to bother trying anymore.

So nobody found any microdeletions, translocations, etc? I suppose that's what alarms me - finding something a bit dodgy but not life-limiting, where I don't know what the effects would be on a child who inherited it.

Pigeonpost Thu 10-Dec-15 08:37:35

A full term stillbirth counts as a successful pregnancy?!? Oh my word. You poor thing, what an awful thing to have to hear. thanks We had karyotyping on the NHS after 3 mcs but it showed nothing up. I've now had 4 mcs and have 3 DC so just assume that quite a lot of my eggs are duff.

BipBippadotta Thu 10-Dec-15 11:40:13

I'm so sorry about your 4 mcs, Pigeon. And yes, stillbirth as successful pregnancy was a new one to me.

Duckdeamon Thu 10-Dec-15 20:01:37

That's terrible bipbippadotta, and I think you should challenge the GP and clinical commissioning group on that in writing. And/or contact the NHS specialist clinic to ask them about the referral criteria directly.

In prof lesley regan's (not sure of the name) book on miscarriage (she's from the specialist clinic at st mary's in London) IIRC she talks about late term miscarriage and stillbirth, and that sometimes (for a small number of women) there are factors (eg blood clotting issues, PCOS) that can increase the risk of this, and also early miscarriages. So I think your GP or local commissioning group could well be incorrect. And bloody insensitive!

Duckdeamon Thu 10-Dec-15 20:03:02

If you're anywhere near London (Paddington) St Mary's were fab for me by the way, very thorough. I paid privately but they take NhS referrals from all over.

BipBippadotta Thu 10-Dec-15 20:39:31

Thanks, Duck. I went privately for immune & clotting tests when GP said no, and they all came out fine. No PCOS either. Don't have the energy to contest anything with the NHS anymore, tbh, after horrendous experiences with the hospital during/after my dd's stillbirth.

The stillbirth itself was due to a ruptured umbilical cord (had to request a copy of my maternity notes to find that out), so at least we know the reason & it's not related to the mcs. We also know she had no chromosomal issues.

I'm currently having tests done at City Fertility in Farringdon, who are very good I think. Will bear St Mary's in mind though. Thanks, Duck!

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