High-risk Down Syndrome result

[Mitford]

We had our 12 week scan yesterday. The NT and nasal bone were normal but they detected a tricuspid regurgitaion (leaky heart) which shouldn't be a major worry in itself, but is an indicator of Down's Syndrome.

Combined with my wife's age etc they gave us a 1/36 chance of the baby being effected.

I know that means we have a 35/36 chance of everything being OK but it's still a worry to have such a low number. They carried out a CVS so we will know for sure on Friday.

Does anyone else have any experience of having similar results at this stage in the pregnancy?

Thanks.

My experience was not as high a risk as for you, so I cannot offer very much other than best wishes. My downs results came back 1/125 for my 1st DS and 1/250 for my 2nd DS, both are happy healthy lads without downs.

If it's any consolation my consultant told me that the early tests are not very unreliable (although the CVS will tell you for sure, obviously)

I'm sure you'll have a worrying few days until Friday, and I am also sure that if your test comes out in a way you wouldn't wish for, there are many, many people who will help you with information and support here on MN.

My stepson (7) is already severely disabled with a global development delay so I think it's made my poor wife feels rather doomed in terms of baby-making.

I imagine that we would keep the baby regardless (although I have no problem with those who choose not to) so I don't know how we'd cope with two special needs children.

I was given 1 in 96 a fortnight ago, as there was no noticeable nasal bone and they told me this was a strong indicator for Down's. Anything below 250 is considered high risk, and anything below 100 is considered very high risk. I am 36, by the way. I had a CVS and it cam back clear. I know it is horrendous waiting; but just keep it in your mind that you are far more likely to have a baby without Down's than you are with. Please let us know how you go and you have my every sympathy. I was a nervous wreck. To put things in perpective - and I read a stack of old threads on here - I read of some poor woman given a 1 in 3 chance, and the baby was fine. Well done for having the CVS, I know it takes courage.

With my DS I was given a 1 in 13 chance because of high nuchal fluid and my age (I was 36). The results from the CVS came back all clear.
I know that they say a week for the results but mine came back after three days so hopefully you will get them a bit sooner. Try not to worry.

Mitford- there are people on SN with experience of 2 children with significant disabilties - in RL I know quite a few these days.

DS2 and ds3 were at very high risk of autism - and their brother has it very severely (non-verbal aged 9) so it was a concern. It was something we couldn't really do anything about other than wait iyswim. During pregnancy I found thinking of them as a soon to be met baby (rather than a potential baby if that makes sense) helped. I knew I'd love them whatever (actually this was more relevant for ds3 as we didn't really understand the extent of ds1's difficulties when we had ds2). Once they're here you don't mind as such anyway- they're just your baby who you love. I;m not sure that 'mind' is the right word- of course you mind for them, but it doesn't later how you feel about your own love for your child (except perhaps make you feel even more protective).

There are also people on SN who have been through heart surgery with babes with DS (including being picked up antenatally). Hope you get the all clear on Friday, but if you don't do post on SN and you'll get some good support from people who have been through it.

The hospital called yesterday afternoon with a negative result (also clear for CF and various other conditions they tested for). We are also having a little girl which lessens the chances of her sharing whatever congenital problems her brother might have.

Thanks for your messages, I am thrilled as you can imagine.

That is great news

Hooray x x x x All the best to you and Mrs Mitford