Possible TFMR

(12 Posts)
Imeg Mon 08-Jul-13 16:39:10

I am 6 weeks pregnant and thought I was prepared for this but am feeling very confused. The baby has a 50% chance of having ectrodactyly, which affects the shape of the hands and feet. We looked into PGD but it wasn't possible as the tests wouldn't pick up the particular genetic changes.
Therefore the options are CVS at 12 weeks, with a risk of miscarriage, or to wait for the 20 week scan. CVS would tell us whether the baby has inherited the gene or not but would not tell us the severity, which can be very variable. I feel very confused about what the right thing to do is. On the one hand, this condition is not life threatening and I can see from all your posts how distressing a termination can be, especially as late as 20 weeks. On the other hand I am worried that it is irresponsible to bring a child into the world knowing that it has a problem that I could have prevented.
This is complicated by the fact that it has taken us several years to conceive (we were actually just waiting for an appointment with a fertility specialist when I found out I was pregnant) and I am worried that it might not happen again.
Any thoughts would be appreciated although I accept that people may feel it was irresponsible of us to get pregnant in the first place, or that it is wrong to consider a termination for what may seem a relatively mild condition compared to some that have been mentioned on here, and if so I respect your views.

Imeg Mon 08-Jul-13 16:43:39

PS I think I may have managed to post this on the wrong topic? Does anyone know how to move it? I'm sure I was on a topic where people were discussing Termination for medical reasons but I've just looked back and it seems to be about miscarriages. Apologies if I have caused any distress by technical incompetence.

nearlyreadytopop Mon 08-Jul-13 17:55:58

if u report ur first post u can ask mumsnet hq to move it to the antenatal tests/choice

Hi there
We have moved this for you
<gentle bump>

mb2512cat Mon 08-Jul-13 19:33:20

Hi Imeg - so can you explain a little more how come your condition isn't Pgd-able but can be tested for via cvs? I have had tfmrs at 20 and 29 wks followed by two rounds of Pgd. We will start Pgd #3 in the autumn. I guess the real question is, regardless of when you test, what would do with the result? If you are considering tfmr, then personally I would counsel finding out at the earliest opportunity, but it is a hard decision so it is a completely personal thing. All the best.

Imeg Mon 08-Jul-13 20:32:54

Thank you for responding, and to the moderator for moving the post. In our case the condition is caused by a small duplication within a chromosome which for PGD is too small to be picked up by the karyotype but too big to be picked up by sequencing. I'm not sure why they are able to detect it with CVS, they must use a different test I suppose, perhaps because it's a bigger sample of multiple cells?

You are right that the big question is what we would do with the information. If we would not consider a termination based on the result then there is no point in having the CVS test. So I think the real question is, would we have a termination if the CVS was positive? And this is what I'm really struggling with: I just don't know how to decide. It is a very rare condition so information / other people's experiences are not easy to find, and this is a unique mutation that has arisen so the effects may not be the same as for other people anyway.

Fingers crossed for your PGD, it sounds like you have had a difficult journey.

mb2512cat Tue 09-Jul-13 16:38:42

Ok, some more questions: does this condition affect you or your dh at all? If not, why not? Is this a condition that indeed the fetal medicine consultants would be prepared to tfmr for? What is the worse-case scenario for this condition vs the best-case? Is there any treatment for the worst-case scenario and how effective is it generally? In terms of your suitability for Pgd, who has told you about how it is tested? A place like Guy's hospital in London? If so then I would accept their view but otherwise there is a test called array CGH that should be sensitive enough to pick up small changes in chromosomes. Have you been made aware of this test? It's this test that picked up that my babies had unbalanced translocations of 6&9. Normal karyotyping was not sensitive enough as I had a cvs with no1 and an amino with 2 and they both came up clear. Array CGH showed up the issue. I would guess that they would use array cgh fir your cvs at 11wks. in addition, Guys use FISH in Pgd for chrom issues and unless they tell you it's unsuitable for your condition then I would be minded to enquire. Anyway, I hope that's a few pointers on how to think about things - I realise it's an ethical minefield and being at such an emotionally venerable stage as you it can be hard to think how to think! Mel

Imeg Wed 10-Jul-13 17:22:50

I seem to have accidentally ended up with two threads on this because one was moved from the other topic so sorry about that...
Thank you for your response, as you say it is difficult to think clearly and so it really helps to have somebody else's thoughts.
It was Guy's who said they couldn't do PGD because of difficulties with the test. They did also say that they might not be able to get a licence because it's not life-threatening.
My husband is affected by it but it arose spontaneously in him so nobody else in the family is affected. I wouldn't say he has major physical limitations, but it is a clearly visible abnormality so probably psychological/self-esteem effects, although he's not a talkative person, especially about his feelings, so it's difficult to be sure. As it's a new mutation it's hard to be sure about best and worst-case scenario but possibly ranging from a bigger gap between fingers to a complete lack of fingers and toes. There might be surgical options to improve function (my husband had surgery on his hands as a child) but it would depend very much on the exact effects.
I am sorry if this seems trivial compared to some of the very severe conditions that have been discussed here, I don't want to upset anyone, as you say it's an ethical minefield, but I really appreciate the chance to talk about it. We really want a family and of course any child that we have will be loved and valued regardless of any differences it has. But on the other hand I'm worried that I should be thinking of the child first and wonder whether it's fair to knowingly pass on this condition because I don't want to make some difficult choices.
Thank you for 'listening'.

mb2512cat Wed 10-Jul-13 20:05:06

Interesting that it was guy's that gave you that advice. I am with them for our PGD. And yes, as i understand it, if your condition isn't on the HFEA list of conditions that can be tested for in PGD then they would have to apply on your behalf to have it added to the list, and I guess the mortality of the condition is what must be the key consideration. Having said that, since your condition is, as I understand it, a chromosomal duplication on 7, rather than a single gene defect, then IVF using array CGH as a chromosome screen is possible and allowed, as long as your condition is identifiable via that method. I don't think Guys use array CGH in their labs, but others do. You may have read about the latest progresses in IVF where researchers are increasingly certain that only those embies with the proper complement of chromosomes are those least likely to miscarry, and are increasingly keen to do chromosome screens on all embies before putting them back in, even if visually they look like good embies. Anyway, back to your current situation, do you think you'll have a cvs at 11wks or wait for the 16/20wk scans? If you get the all clear at the 20wk scan does that mean that your baby would definitely not have inherited your husband's condition?

Imeg Fri 12-Jul-13 09:31:07

I think that they would be likely to see severe effects at the 20 week scan (eg no fingers at all) but it's possible they could miss milder effects.
I'm still not completely sure, so I've got a dating scan booked next week so that the CVS can be arranged if we would like it, to keep our options open while we decide. Apparently at the same time as the scan I will also have an appointment with a screening person from the fetal medicine unit to discuss the CVS test which might be helpful.

glimmer Wed 24-Jul-13 17:24:44

It seems that if you have CVS than there is a 50% chance that you get the 'all clear', which would be the best scenario. If not, you might decide to wait until 20 weeks to learn about the severity before you make a decision.

Hopender Tue 01-Oct-13 07:36:57

I know this thread was from a couple of months back. I have ectrodactyly and they were able to pinpoint the causative gene through an array CGH for PGD. It was done by a geneticist at the Western General called Mary Porteous. I have the same chromosomal duplication on 7. I've never come across someone with the same thing before! I was approved for treatment at guys and Mary porteous was almost certain it would be approved. We have one son without ectrodactyly and had one termination at 16 weeks when we found out the baby was very severely affected. We were told that he would not have been able to walk and his hands were severe too. I have also had four miscarriages which they think might be connected. We have decided not to go for PGD because I am 38 and we have to self-fund. We wouldn't mind doing this but the success rate isn't great at my age. We have decided to do the CVS test at 11 weeks to avoid late termination. It is hard though because we won't be able to find out how severely the baby is affected. I'm not convinced the scan at 16 weeks is very reliable either though as the information they gave us after the termination was quite different from the information they gave us in the scan, albeit just as serious. Hope this helps.

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