Hi, Thank you for responding. There were some other responses to this but they seem to have disappeared, I'm not sure why. Probably I've pressed the wrong button somewhere!
My husband is affected by it (it arose spontaneously in him so no other family members affected) and I wouldn't say it causes him major physical limitations, but I suspect it has had some psychological effects, though as he's very reluctant to talk about his feelings it's difficult to be sure. However the effects can vary in severity, so it is possible that any child could be more severely affected (though also possibly less severely) and they couldn't be sure about this until the 20 week scan, though might see severe effects at 16 weeks. We have had advice from a geneticist and I have talked to the midwife briefly, so I do feel that I have fairly clear information on all the options, I'm just struggling to decide between them.
If the person who responded before is still reading this, it was Guy's who told us they couldn't do PGD because the test wouldn't pick it up. They were also doubtful that we would get a licence as it's not a life-threatening condition.
This is an incredibly difficult decision to make. Have you had any medical advice? I can't imagine having to make such a choice but I would be tempted to have the CVS at 12 weeks and take advice then. I assume future pregnancies would have the same odds?
Do you or your partner suffer from the condition? Is your life seriously affected by the condition?
Sorry not to be any help but hopefully this will bump your thread for someone more knowledgeable to come along.
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