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genetic testing/counselling -any experience?

16 replies

poppy34 · 29/06/2007 22:39

Just general plea for anyone who has been through this or know anyone who has?

Following recent pregnancy issues (see other threads) the follow up from post mortem on our baby means we have been recommended further testing for genetic issues. As far as I understand the potential issue if any was not anything generally assocaited with the abnomalties my baby had but they're being cautious. So any experience/advice gratefully received. There is lots on the net on various tests etc but none of them tell you what to expect in a very personal way.

OP posts:
poppy34 · 01/07/2007 18:14

bump

OP posts:
hazygirl · 01/07/2007 18:17

my daughter and partner had genetic testing after grandson died but they only look for what they suspected what he died of c f but they were fine

RahRah1 · 01/07/2007 20:22

HI poppy, we had genetic testing after my son died. I just had some blood taken and then had a follow up with the consultant where he advised that I was 'a normal' female... that was it! They did not complete genetic testing on my son, but decided to complete it on me and my husband to eliminate any further pregnancy complications. They were pretty sure that we did not have a genetic issue.
However from what I understand they just do a general genetic test and it does not elimanate everything as there are so many genetic issues that can present.
My husband has not had his test yet - will not go ino that one... but he is scared of needles... I know lame excuse! I think he is actually scared of what they might find..

I know someone that had genetic counselling, but that is only required once/if they find a genetic issue. It was very comprehensive and they were taken care of very well. They now have a beautiful child...

Lots of love - Rah XX

Tamum · 01/07/2007 20:26

Hello poppy, how are you getting on? I have no experience of this but I am a geneticist, though an academic one. I can't advise on what they will do in general but I can answer any specific questions, especially if anything comes up after your appointment that you're not sure about.

wishingfourgotone · 01/07/2007 21:16

I had genetic tests to see if i was a cf carrier as my sister has cf my mom is carrier i had this when i was pg i had blood taken and it was sent away and i got the results four weeks later, i was not carrier so my partner did not need testing.
They will offer you counselling and take it you can always stop taking it if you want hope this helps

Jossiejump · 01/07/2007 21:51

DH and I had genetic testing after m/cs, just a blood test each, then met with the consultant for the results

poppy34 · 02/07/2007 20:18

thanks for all the posts - we went in today both to have blood tests and were told that we have to wait a week or two for results. the trouble is that I am not entirely sure what it is that they're testing for (to be clear they ruled out trisomy or translocation on the baby). All that the post mortem said was that slight anomaly on the 18th chromosome.

The thing is that I have no idea what this means (sorry I'm not a scientist) or more tot he point the implications for trying again so I am not sure what to worry about or not to worry (consultant very nice and reassuring but I'm not sure if he is just saying that to be kind). So am more than slightly bemused plus fed up with the fact that waiting around for more test results.

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wishingfourgotone · 03/07/2007 09:09

sorry i cant help not scientist either could you ask for the person that to;d you bout the chromosome to explain what this means in normal person not dr terms!
Did they say this affects you ttc another baby?

Millarkie · 03/07/2007 16:17

Poppy - Sometimes it is necessary to look at the parent's chromosomes in order to determine the 'significance' of the baby's chromosome anomaly. Human chromosomes have some variation which is normal and sometimes it is hard to determine whether an anomaly is part of this variation or whether it has caused the abnormalities in the baby. I would guess that until they work out what the significance of the anomaly is, that they can't give you advice on ttc.
(Hope that makes sense) Sorry that you have to wait to get more information.

poppy34 · 04/07/2007 22:23

thanks -guess will just have to wait and see. I suppose more information is better than nothing but its annoying have to wait and see and especially finding out what impact is on TTC.

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pinguin · 21/04/2010 21:24

Hey... hijacking the thread to ask anyone with experience or knowledge but I guess Tamum in particular, what they know about genetic testing and translocations.

After my recent third m/c we got blood karyotyping done on me, my other half, and on the foetus. They found the baby had trisomy 14, that my husband was normal and that I have a balanced Robertsonian translocation in 13 and 14. Is that how you say it? 45XX t(13,14) - don't know the rest as the annoying consultant wanted to do handholding rather than discuss the genetics.

Anyway, I just wondered what's known about the likelihood of the various outcomes of a pregnancy. I know it varies from person to person, and I'm getting a referral to a genetic counsellor, but a ballpark figure would be dead interesting. And you know, any useful info/experiences anyone has. I'm feeling reasonably lucky: it's no harm to me, and I was sitting there in Regan's clinic yesterday listening to a couple who'd been through like 7 or 8 mcs and still had no reason given. Do any of you guys feel as though, when you go to the consultant and you've had as yet unexplained mc, they kind of treat you as though it would be your fault? I'm quite relieved in a way to have sth wrong with me that is concrete and real and isn't in any way to do with stupid lifestyle stuff. If I'd a pound for every time someone's asked me if I might have brought on a mc by cycling too much, or taking medicine, or blah blah blah... now I have the biggest stick in the world to beat them with.

It's also pretty amazing to know this, because my parents also had trouble to have kids: my mum had 4 early miscarriages before she had me. Sad is that she lay in at the hospital for 8 months when she was pregnant with me, and decided not to try for a second baby because she couldn't see how to look after me if she'd to go back to hospital. Now it seems highly likely that either she or my dad was carrier, and it was total luck that I was OK, nothing to do with lying in. I don't know if she'll like that but I hope she feels like me that it's kind of miraculous to know why we've had so much bother. And I feel slightly like a walking miracle myself. It's so weird! 2 chromosomes stuck together and yet everything seems to work OK.

PrettyVacant1 · 22/04/2010 08:48

Hello, I'm so glad I've found this thread as I was going to start one but didn't quite know how/where to begin.

I'm waiting for bloods to come back too and we've been refered to a Genetic Counselor.

Until we get results I don't really know much either tbh
I've been told that in our case, it was a duplication of chromosome 22 detected from the foetus.
DeGeorge Syndrome was mentioned?

I'll hand hold with you poppy and penguin it's not quite the 2ww we'd like but we can do it together if you want

Any professional advice would be greatfully accepted and sorry for the unashamed hijack poppy
It was my 6th MC.
The last one was also Molar and I'd just got the all clear from Sheffeild.
I also have high NK cells which I will need steroids for.
I wouldn't have even been tested for genetics if I'd not been taking part in a trial for NK cells.

PrettyVacant1 · 22/04/2010 08:52

Doh!
Just re read and noticed dates of OP.

Hope poppy is now well and if you're still about.

Pinguin
Ok, just me and you kidda.

pinguin · 22/04/2010 20:42

Ah yeah I just searched for translocation and this was the closest thread.

B*stards! I can't believe you weren't tested for genetics at 3mcs. Maybe I should stop slagging off the London hospitals.
...nah.

When's your appt with the genetic counsellor? I've not got mine through yet.

I'm slightly worried about NK. It's the only other reasonably common thing that I've not been tested for - but I'm hoping that the genetic problems are all I have to worry about.

Hey, you do know that it's possible the baby had a genetic problem that just arose out of bad luck? As I understand it, you and your other half may be totally clear. I'll keep my fingers crossed for you.

PrettyVacant1 · 22/04/2010 23:05

I really hope so Pinguin
I wouldn't mind the same odds for the bloody lottery!
I also think I've had enough bad luck for a while

Not got App yet either, only went for bloods on Tue.

Do you think there would be anyone still around on here who knows about all this?

Keeping my fingers crossed for you too x

PrettyVacant1 · 22/05/2010 13:26

Pinguin you still about?
Have you got any results/answers yet?

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