Should I have CVS/amnio?

[pureequeen]

Any thoughts gratefully received...

I have had several mc and the last mmc we had testing done on the placenta which showed that the baby had cri du chat. In turn DH and I have had karotyping which shows that we are "fine". Neither of us carry the gene for CDC so in the last pregnancy it arose as a random thing.

However, I have "increase in length on satellite of short arm 13 and 15". Apparently this is "not significant" but to me the fact that it is in the report means I am not entirely normal and from my limited research it seems to suggest that i have a slightly higher mc risk and - to my mind - it seems to suggest I am more likely to conceive a child with a chromosome problem.

I am now pregnant again. Very early days but I am thinking ahead as to whether I will be offered/whether I should ask for CVS or amnio?

I am 34 and have one DS (currently being investigated for a mild congenital metabolic disorder but otherwise in v good health).

I will of course run through all of this with the Dr in due course but would appreciate any guidance in the meantime as it is really playing on my mind.

Many thanks

Hi and congratulations on your pregnancy. It must be really quite stressful for you with your previous mc. I know each person's experience is different and everyone has different ways of managing these things, but I have a bit of personal experience of the choices around CVS. I have had 2 pregnancies with extra chromosomes (Downs & Edwards) and in these pregnancies this was initially detected at 12 week nuchal/bloods, which then led to me being offered CVS and sadly a definite diagnosis in both babies After the first termination I presumed I'd be offered CVS as standard, but the Nuchal/bloods gave us very low risk and so we didn't qualify. (our healthy DD) I am now 21 weeks pregnant again and had been given a 1:50 chance of chromosome abnormality by a geneticist based on my history. My hospital offered me CVS at 11 weeks automatically, but I opted to have a nuchal instead and take it from there...which gave me a very low risk and meant CVS was not really necessary. I have also had a 20 weeks scan which was fine, so although we don't know for certain that baby is ok, there are no anatomical indications that anything is out of the ordinary.
I know my situation is different from yours in that our babies have had 2 of the most common trisomies, and they are the ones that are screened for most easily, and in that we don't know of any physical reason with us that has caused the chromosomes to go 'wrong', but possibly when you see your obstetrician they may be able to offer more advice on screening availability before having to take the CVS route?
Sorry long reply!

thanks babylily - so sorry to hear what you've been through and best wishes for this pregnancy.

I think I probably am jumping ahead a bit (and obviously I need to be a lot further along before this is even a real question) - getting the combined test is obviously the first step. I think i will go to the Fetal Medicine Centre for this - they have been great with my mc.

I am just very keen to find out what this "increase in length" thingy is on my profile - will have to be patient!

Hi Pq. I think the best is to talk to your consultant for reassurance/guidance. I think that there are many more variations in our genes than we are aware of.
It' just that normally nobody knows...
I have an 'insignificant' gain on a certain chromosome (and am actually proud of it - but my husband uses to tease me) which I have passed on to at least one of my children. They often know if a certain region is important or not and if the report sais "insignificant", I believe they know it's insignificant - if this makes sense. It does not sound like an unbalanced translocation, which would put you at increased risk.

I am sorry about your mcs and wish you all the best for your current pregnancy!

my dh has a balanced translocation (we call it his twisted gene or blinky - homage to simpsons). the problem would be if it was passed on to a child in which case it might become unbalanced. the geneticist said it would basically produce a pregnancy which would immediately miscarry and be very unlikely to even be noticed.

i have 3 healthy kids but found out about this because I had a pg where the baby had a major heart problem. We terminated the pg and the baby also had this - it was unrelated to the problem. I have also recently terminated a pregnancy of a baby with T21 and am now 13 weeks pg and awaiting my blood result for this pregnancy. like babylily, I considered immediate cvs but decided on nuchal instead, will consider more when the results come in.

thanks glimmer, interesting to hear that there are many different types of variations (many many years since I studied biology and I think things may have moved on a tad!).

mantitz fingers crossed all goes will with this pregnancy, sounds like you have had a rough time (I know that is a bit of an understatement).