Had a CVS now a problem with chromosomes. Any advice?

[plumblusher]

After a lot of consideration I had a CVS done as my risk of DS was 1:20. We waited a week and got a very relieving 'normal' result. I finally felt like I could relax and enjoy this pregnancy. I had even been feeling the baby move which was very reassuring.
Then completely out of the blue I had a phonecall from the MW at the hospital. They urgently needed a sample of blood from me and my DH as there seemed to be a problem with the baby's chromosomes.
When I asked what the problem was the MW was unable to explain as she said she didn't know herself and that sometimes having a CVS is like opening a can of worms-great!
We have to wait until Friday for results of who knows what.
This is going to sound awful but sometimes I wish I wasn't pregnant, it has been hurdle after hurdle and a completely draining experience.
I'm hoping the lovely ladies who got me through the CVS decision will read this and help me out again, cos I really need some support or advise if anyone has had a similiar experience PLEASE PLEASE HELP.

Hello. Didn't want to read and run. I'm in the same boat as you although I'm having a cvs on Tuesday. Sending you positive vibes and thoughts for Friday.
Hopefully someone will come along and share their experiences. X

Plumblusher. Really sorry to read your post and that it's such a rollercoaster for you. It is especially cruel to think you're in the clear only to find out you're not out of the woods yet. Yes I have been in the same situation as you. Last year I had s high risk (1in 13) for DS. Had amnio and got fast results which were all clear. We were so relieved, thankful etc. Then a week or so later got a call saying they had found something wrong with one of the X chromosomes and that extra genetic material was attached to it. They didn't know where this extra material had come from and needed to do further analysis to find out. Couldn't say how serious it was at that stage but made an appointment for us to see the geneticist the following week when they would have the information they needed. So we had a few more days of excruciating worry and uncertainty to find out what was going on only days after thinking the worry was behind us and that we could start to relax and enjoy the pregnancy.

For us sadly it wasn't good news, our baby had a very rare unbalanced translocation and the prognosis was very poor indeed. We made the devastating decision to end the pregnancy. I was 20 weeks at that point.

The full results occassionally show up problems but they are not all serious as our experience. You can't know what you're facing until you know exactly what they have found so I hope you get that information quickly from a geneticist. There is a charity called Unique who deal with rare chromosomal abnormalities. I found them very helpful. You can google them.

Very best of luck and let us know how you get on. I'll keep my fingers crossed it's nothing serious and if you need any further info let me know.

All the best.

hey plumbusher, i remember your original posts, and i'm so so sorry that you have found yourself in this position, yet again waiting for some news. I have not had this experience myself - my experience was different to yours in that i had an amnio and the results were very conclusive.
i'm glad cherry has been able to share her experience with you, and as she says - chromosomal problems do not always mean there is something seriously wrong. i hope that you get to hear what is wrong very soon and that the geneticist is able to explain it all to you very clearly so you know exactly what you are facing. sending you many hugs, and please keep us posted xxxxxxxxx

hi plumblusher, we had a termination (at 26 weeks) for a baby that had a massive heart problem. We were genetically tested and found out that dh had a balanced translocation which means that the chromosones are there and complete but that some of them are backward. it makes no difference to him and had nothing to do with the problem the baby had. I'm telling you this because a 'problem with the chromosones' could mean anything and possibly, as in our case, nothing.

It would seem that there is a cvs report somewhere that the mw has. Can you phone her tomorrow morning and ask for the initial result. There is a website called unique which might help you interpret them. I am really sorry you are going through this and there is little I can say to ease the stress but I have found taking control helped me when we had issues. If the baby has an unusual issue with the chromosones then I'm not sure how it helps at this point for them to have your chromosones?? It just seems to leave you hanging. I would make the point that you are extremely upset and could someone just tell you what they have discovered before your results come through at the end of the week.

Take care. xx

Plumblusher, I'm really sorry you're facing this after you thought all was well.
The only thing I can think of in addition to what others have posted is the possibility of mosaicism - where some of your cells are mixed up with the baby's in the cvs sample. This can sometimes give misleading results. Perhaps the people at ARC might be able to shed more light on this?

You should not have to be waiting a week to find out what is going on. Can you ring the midwife back and ask to speak to a consultant or a genetic counsellor who can explain (a) what the problem is and (b) why a sample is needed from you and your husband?