Genetic disorders and further pregnancies

[Rosiesgirl]

I gave birth to a wonderful healthy boy in 2004 and thought our family was going to be complete when I became pregnant again and our new baby was due exactly 2 years from the birth of our first.

But at 12 wk scan there was fluid build up on the back of the babies neck and after numerous tests we fund out our baby (a boy) had a neuro-muscular discorder that was fatal. If the baby survived birth he would never take a breath. We decided on a terminiation at 21 weeks which was traumatic (7 hr labour) and incredibly upsetting. The post mortem showed that my DH and I have the same faulty gene so we have a 1 in 4 chance of this happening with any other pregnancy. I'm nervous about trying again but I know I want another child, but what if the same happens.

Also about 3 weeks after the termination I had a heamorrhage due to placenta left behind. Although I got to hospital quickly I lost 5 pints of blood and was in shock. Its made me think maybe I should not take any chances and just enjoy my little boy...

Anyone else in a similar position??

What a terrible predicament for you. Would they be able to do testing in an IVF situation?

presumably you can be tested (cvs maybe) much earlier in the pregnancy and have a termination much earlier if you need to. Still traumatic but probably not as bad as what you have been through already.

It might be less traumatic than going through the whole ivf thing.

At least you can hold on to the idea that 3 out of 4 babies you have should be fine - so you might well be lucky like you were with DS1.

I may try a genetic counsellor. I had quite long chat with the consultant once the initial post mortem result came through and I guess I wasn't convinced a counsellor could tell me any more than I already knew. The statistics are fairly black and white and I didn't think there was anything I could do to improve them.

Yes, you are right in that they could identify the condition with certainty early on, whereas last time they needed to do CVS test and scans which all took a long time, resulting in 21wk termination.

I think I'm just a lot more aware now of all the variety of things that can go wrong, and the bleeding didn't help. I guess thats one of the downsides of things like the internet. Its so easy to find information and sometimes I think there is such a thing as too much info!!

I guess you have to decide if you really want another child and are prepared to take the risks of another termination (albeit hopefully less traumatic because you know more about it).

If you can go through the early weeks of the pregnancy without building up big dreams of the result - keep in mind that this may not be the one that works out - that would probably be ok.

But if you think you would get too emotionally involved and find it too tough to go through with - then accept you have one child already and concentrate on him and enjoy being the family you already are.

How does DH feel about it all ?

I do feel quite lucky that they can test for it and also, and I know this will sound awful, that the condition is fatal i.e we dont have any agonising decisions about quality of life. It really is very black and white. But I can't help but think that getting over that hurdle does not prevent any other problems from occuring. It all seems such a lottery!

DH wants another child, but he doesn't really want to go through everything to get there. I had heavy blood loss with my first son which prompted me to be induced and the haemorrhage with our second son has made him really scared of pregnancy. He genuinely thought I was going to die with the haemorrhage - you know how far blood spreads and 5 pints of it over the house and car has scared him witless!

I didn't think about IVF procedures being helpful, so I'll look into that - THANKS!

on the news day there was

\link{http://news.bbc.co.uk/1/hi/health/5079802.stm\link}

about testing on embrios for certain genetic conditions. You would have to go down the route of IVF and would also have to do some research to find out whether your genetic condition is one that can be tested for. I'd imagine that it wouldn't come cheap and there are no guarantees of a pregnancy at the end of it.

And if you went down the natural conception route there are other implications. Firstly, how many terminations would you be prepared to have in order to have a healthy child? I know that sounds really blunt but ultimately you could fall pregnant with many children with this condition before again having a healthy baby, also, there are implications to any healthy children you have. How do you feel about potentially having a child that you must one day tell carries a gene that could result in their children having this fatal condition? Has your ds been tested to see if he carries the gene?

Rosie, sorry to hear about your baby. Have you tried contacting the charity ARC (antenatal results and choices)which is a support group for women who have had difficult results from antenatal scans/tests etc? Your hospital should have given you information on them. I had a termination at 12 weeks (for trisomy 13) and have found the support group really helpful. There are women on there who have also been given the 1 in 4 recurrence risk that you have and so have battled with the same issues as you. So it may be helpful to talk to them. They will not have answers as such, as everyone is different, but sometimes it helps to talk to people in a similar situation.

Thanks for the info on ARC - I didn't receive anything on that so I'll take a look. Like you say, there are no answers but sometimes it helps to chat it through with people who are in the same boat.

I hope any further preganancies you have go smoothly!

Thanks Wannabe1974 for your reply as well. I've been told that as its a recessive condition the same faulty gene needs to be present in both parents so even if my son does have the faulty gene it is not a problem unless he meets someone with the same faulty gene. Not sure if I've explained this clearly but the end result is he doesn't need to be tested.

could you have pre-implantation genetic diagnosis, to select a healthy embryo?

Rosie-thanks-I am 24 weeks pregnant again, and fingers crossed, all looks fine so far. Being pregnant again is not easy after a loss like ours, but there is lots of support our there is you want it (through ARC, counsellors etc) Hope all goes well for you if/when you try again.

Thanks majormoo for your comments on ARC. I conttacted them yesterday and I received the information pack today which in itself has helped. They've also given me the number of someone in exactly the same situation as me - All I need to do now is pluck up the courage to call her. I know I was to because I was to ask how she felt going for her next scan with a 25% chance of the baby having a fatal condition, but I just dont know how to start the conversation. Silly really.... But thanks for the contact.

Hi Bundle, Thanks for your suggestion. I hadn't really considered medical help in trying to ensure I had a healthy baby, I thought I'd leave it to chance, but now I think I may reconsider. I'm not sure how many terminations I could go through.