CVS and amnio testing

[summitstar]

Hi,

I dont want to offend anyone here but wondered whether if anyone would share their thoughts with me. Did people whose first child had a chromosome disorder, which was nothing that was passed on by parents, chose to have CVS or amnio testing during their second pregnancy

Thanks in advance

Hi Summitstar
DD has a chromosone disorder which we are not carriers of. We were told by geneticist that he was 99.9% certain that we would not have another child with the same condition - but never say never! He also pointed out that we ran the same risk as the rest of the population of having a child with any other condition. As DD is severely disabled, we felt we could't cope with another child with disabilities, so I had a CVS test done at 10.5 weeks. Test came back normal and I then knew that baby 2 would be a boy but it didn't stop me worrying that there might still be something wrong! I insisted on detailed scans later in the pregnancy just to be sure.
DS was born perfectly healthy - but heyho he was diagnosed with HF ASD at the age of 6!!!
I have to say that I found the CVS test to be particularly unpleasant - although that may have had something to do with the arrogance of the consultant who carried it out (they didn't do them very often at the hospital where I had mine, and only one of the obs & gynae consultants did the test - so he invited a load of people in to watch - without asking me 1st). I felt like I'd been kicked in the stomach for a while afterwards as the local anaesthetic only works on the outside of the tummy where they put needle in - but no anaesthetic internally!
I think if we had decided to have any more chidren, I would have been brave and had the test again - just found someone else to do it!

HI bigbluebus,

Thanks for your post and sharing your experience with me. I have some decisions to make and quite honestly,right now, dont know how to make them, I have a few weeks to hope that it all becomes a bit clearer. In my case this father is not the same as son ds (6). He is severely disabled and as much as I dearly love him I simply couldnt go through all the pain again. My dp has 2 mainstream childrens but the 'what ifs' are in my mind!!!!! I want to enjoy this pregnancy and not spend it worrying.

Is there any reason why you chose the CVS over the amnio? What additional scans or care were you offered?

Thankyou

I chose CVS over amnio as the CVS test could be done much earlier and I was able to have it done & get the results without anyone other than DH & medical people knowing. That way, if the tests had shown anything up then it would be our decision alone what to do (my parents are both strictly religious and would not have been supportive of a termination under any circumstances). Also termination would have been less complicated at that earlier stage.
As I said in previous post, the test results didn't stop me worrying. I insisted on (wasn't offered) a detailed scan at 20 wks, but other than that it was just the same routine care that everyone else got.
It isn't going to be an easy decision - but I guess the key thing is, would you terminate if there was a problem - if not then there probably isn't any point in having the test.

much the same as bigbluebus, dd3 has a genetic syndrome that was de novo so negligible chance of another child having the same thing but being at the same risk as anyone else my age of having a child with sn. Only we made the opposite decision and decided against any invasive testing on the basis that you can't test for everything and we still wouldn't know for definite. I did have extra scans with the consultant but everything looked fine and eventually had later scans with the usual sonographer, didn't stop me from worrying but I don't think anything would have done. Ds2 is 2 now and apart from a bit of speech delay down to glue ear is doing fine.

For what its worth, I have one baby with an extra chromosome and if I were lucky enough to be pregnant again I am currently pretty certain I would go for CVS. Last time I relied on the anomaly scans etc which showed DD was fine and was not prepared when she was born - next time I could not face not waiting to know, I'm fairly sure.

SHould have said - my DD has ordinary, non-translocational T21, so its not an inherited genetic disorder, but I'm an older first time mother.

Thankyou all for your posts......needless to say I am torn. My friend ( who guessed I was pg at only a matter of weeks ) said 'whats the point in having testing as you wouldnt terminate if it did show anything'.....wouldn't I, I already have a severely disabled son..Its not that simple of a decision to make!

I have an appt with my gp next week, shes pretty good so maybe that will make things a bit clearer

Thankyou

Not chromosomal but ds1 is severely autistic.

Didn't have invasive testing with ds2 or ds3 as I figured why terminate for DS when we were at high risk of autism. Ds1 is less able than any child I have met with DS to date.

We did have screening as I wanted the chance to pick up anencephaly.

A dear friend of mine had a difficult experiences. Ds1 was born with disabilities - eventually labelled CP. They said it was just bad luck - whatever his condition is, it has not been identified. Ds 2 was born NT. She then had her tubes tied.

4 months after getting the all clear on the tube-tying, she fell pregnant. After much soul-searching, she decided to get all the tests and screening as she felt she would not cope with another child with disabilities. All came up clear. Beautiful dd born. After about 6 months she started showing the same symptoms as ds1, and it turns out is (we think) more severely disabled than her brother.

Further genetic testing has not identified anything although the experts say there is clearly something genetic causing this.

summit It's not an easy decision - I was fortunate enough to never have to make that decision regarding termination - so I will never know which way I would have gone. How does your DP feel about it all?
Glad you've got a good GP - they are worth their weight in gold in these situations. Mine was very supportive - arranging early scans to check dates, arranging with midwife for appts at weekend ,away from the house (so that her car wouldn't be spotted by neighbours), ensuring that I knew what hospital needed to do at CVS test (needed injection afterwards due to being B- blood group).