Higher risk of Downs Syndrome and CVS...feeling fairly shell-shocked

[Cith]

Hi,
I have just had my nuchal scan today at 13w+1 (prev earlier scan they couldn't do the measurements)as part of the combined test. Although the scan looked fine and the nuchal measure was fine, at 30years old my age was normal, but my bloods were low and so have brought my risk for downs to 1:46 (anything under 150 is apparently a high risk) so have been booked for a CVS next Tuesday. Am feeling so shocked as really didn't expect to have a high risk for chromosomal disorders. Am aware of the risk of miscarriage (had a MMC at 13 weeks in JUne this year so feeling fairly vulnerable already) but hoping this is the right thing to do...I work as a therapist with children under five and frequently with children with downs syndrome - so feel informed - just very shocked and a little sad. ANyone else out there who has had a similar experience and has positive story about CVS?? WOuld love to hear from you.

Good luck,Cith.

Have you tried the "Ante-natal tests and choices" thread on here?

Hopefully for you all will be well.

I think anything like this is shell shocking as it is unexpected.Normal reaction.Is this your first child?

(I have a sn child myself and though it was not something i envisaged I wouldn't be without dc2)

I have no personal experience of your situation and I can't imagine how shocked you must feel but I would ask you to think really carefully about your expectations and choices.

Your risk of 1 in 46 means that you have around a 98% chance of your baby not having Downs syndrome. A different way of expressing the same numerical risk can give a totally different perspective.

You do not have to have a CVS if you do not want to; think of what you would do if it was positive and how you would feel if you continued the pregnancy with more uncertainty about the outcome than you had anticipated prior to today. You can change your mind about anything.

This is not to say what the right or wrong choice is for you, just that I worry that women get pushed into making decisions straight after screening tests without time to think it through.

Best of luck. x

There is a fabulous organisation..it is an antenatal screening help line..really sorry..can't rememeber name..wasn't nhs run, and I had the most down to earth and helpful conversation with the lady at the end of the phone. Try googling antenatal tests help line or something similar.
My blood tests came back with a similar risk to yours..but they are soooo affected by correct dates etc etc personally if I was ever pg again I would avoid screening blood tests and stick to the scans. 1 in 46 means you have a 90 something percent chance that all is fine, and if the scans have been ok, it almost certainly is.
I worried all the way through but didn't have any additional tests as I had a previous mc and the outcome wasn't going to change things anyway, however completely understand the need to know. Keep us posted.

If you would keep the baby regardless of any difficulties I would question whether you should have the CVS tbh.

I had a risk when I was 29 of 1:9 (I want to say) or 1:52 I know these two figures are far apart but I really can't remember. Anyway it was nuchal thickness that made the risk high, I had my CVS and the nuchal was still measuring twice what it should have been. CVS wasn't nice but bearable and the results two weeks later were negative for any trisomies (If that's how you describe them). They could also tell me the sex of the baby.

I don't know what the implications of the bloods making you have a higher risk of a baby with Downs.

The very best of luck.xx

I think the most pressing question is do you want a CVS test? The way you say you 'have been booked' for it just makes me wonder a bit how much you've bought in to that decision or if it feels a bit like something that is expected of you?

I think feeling shocked and sad at the moment is very, very valid - whatever the outcome, this level of concern and scrutiny wasn't what you expected and nobody wants to be facing it.

Cith - I had a 1:12 risk at my combined nt test/scan and went on to have a CVS. The CVS was not painful just a little uncomfy but over very quickly. I got initial all clear results 2 days later and final results two weeks later. I'm glad to say all was fine and I'm 17 weeks pregnant with a little girl.

Hope this helps.

I had a cvs a couple of weeks ago after 1 in 46 risk from the combined test (was 1 in 9 after the nuchal scan alone). It was a bit uncomfortable but over quickly and I got the all clear for the main 3 trisomies 2 days later and full results after 2 weeks. I felt a bit dizzy afterwards but had no bleeding or anything. I am 17 weeks now
Good luck. The odds are still stacked in your favour. 1 in 46 means that 45 out of 46 babies will be normal

I had an amnio 6 weeks ago as I had the triple test and that came back at 1:55 risk (I'm 35) from my understanding the scan is more accurate than blood tests. The triple test is notoriously inaccurate ! I called the ARC phoneline and spoke to a lovely lady. It is entirely natural for you to feel shell shocked. I was very teary when I got my initial results. Glad to say I got the all clear from my amnio. For me I wanted to know what we were facing. I know it is a personal choice but the risk of mc is very, very low

Hi hon, know what you are going through, had cvs following nuchal scan and was absolutely terrified for the time it took from having scan to receiving cvs results. Got all clear. Thinking about you x for what its worth, think it is worth finding out whether you think it make a difference to your decision to keep the baby or not because it gives you time to prepare yourself and to deal with any shock you might feel before hand.

Hi, Cith, sorry you are having to go through this.

Do look at the website linked to above; it is very good at talking you through the advantages and pitfalls of various antenatal tests.

The screening tests only give you odds for something to be wrong, ie 1 in 29 risk of Downs also means 28 in 29 chance of NO Downs.

I had one amnio and CVS x3, no miscarriages due to the tests (had 4 MMCs before). CVS is IME more sore than amnio which I thought was no worse than having your blood taken for instance .

I opted for CVS because it can be done earlier, I had a high (1:4) risk of Patau Syndrome due to a genetic problem I carry, and I would have opted for termination if I had carried an affected baby. And if it had ocme to that sad option I would have wanted to have it done as soon as possible.
So, there is my train of thought.

As others have said, there is no right or wrong. You do not have to have diagnostic tests. Think carefully about what you will do with the information provided.

I do hope everything will go well for you, whatever you decide.
Good luck .

Thank you so much ladies for your swift responses. It is so reasuring to read all your messages. The above website looks really helpful and I think I shall try to chat to someone there. A friend also said that she had heard that the bloods were the least accurate part of the triple or combined test...not sure if anyone has actually read this documented anywhere?
x