Anyone able to give advice on risk assesment for Downs?

[MummyPenguin]

My Niece is 27 and expecting her first baby. She's about 14 weeks pregnant. She's had a risk assesment test done, and has been given a score of 1 in 49, which apparently is quite high. She's awaiting an appointment for an amnio.

Anyone know anything about this sort of thing? I guess my main question is, given the score, how likely is it that her baby will have Downs?

first of all, do you know which test did she have? Some tests are better than others. Nuchal scan (using ultrasound better, blood test not so good). Were there any other signs, i.e. there are a number of soft markers (i.e. things you can see during ultrasound that are associated with downs).
But to really answer your question. 1 in 49 is the same as 2% (i.e 2 women out of 100 with the same result will have a baby with Downs, while 98 won't). Is not that bad really, but I understand is she is concerned. It is a shock, until you realize that the chances of not having downs is much bigger.
But ultimately, what it matters is her baby. Whether is 1 in 49, or 1 in 2000, for the one the result is the same IYSWIM.

The amnio will give a straight question, because they can see the chromosomes (if that is what she wants). Better not worry too much until then, is all guessing.
HTH, and
All the best for you and your niece.

I know older Mums who've had a worse score than that and not had a Downs baby.
Just try to think positive - if it was a racehorse you'd be pretty surprised if it came in at 49 to 1. But when it's something horrible it seems like a foregone conclusion.
Risk of miscarriage with amnio is 1% so that's why she's been recommended for one - the risk of harming a healthy foetus is lower than her risk of Downs.
Fingers crossed everything will be fine.
It's a surprising fact that most Downs babies born today are to Mums under 35, because the over 35's tend to go for amnio automatically.

I imagine this was the blood test , or was it combined with the nuchal screening that is carried out on ultrasound scan

This is quite a high result in that the risk for a a Downs baby normally gets higher with age so a 35 yo has a 1 in 400 risk of having a baby with Downs, so someone aged 27 should have a much lower score than this.

That said this is only a screening test and it is only suggesting the probability of the baby having a chromosomal problem so therefore having an amnio usually at 18 weeks or a CVS at 16 weeks is sensible so that definate ansers can be given
However her result is quite a high result.
Good luck to you all , it sounds like a worrying time for you all

Thanks everyone. I haven't spoken to my Niece myself, she lives in Spain, and the information I've had so far has come via my Mum. I think it is the blood test she's had, although I can't say for sure. I think they do things in Spain a bit differently anyway. Apparently she's pretty calm at the moment, which is good, so we'll just wait to see what the amnio shows up. I thought it was high too, the score she's had.

This may not help, but of friends of mine who have had higher risk scores than your neice, none have gone on to have a baby with Downs. My DD3 however, does have Downs, and my risk score during pregnancy, then aged 35, was 1 in 90. My point is, without an amnio, theres no way of knowing. But I remember it as such a worrying time, and I wish you all the best xxx

they class any result greater than 1 in 250 as high, with dd my result was 248/1 and I was sick with worry, but the modwife put it in context that if it was only 2 less i wouldn't have even known, and been told it was low risk. the risk of miscarriage from an amnio was higher tbh.

what's a modwife???? mid wife

Thanks again. Hopefully she'll be fine. I will pass this information on.

Mummypenguin, I was given the odds of 1:26 at my nuchal scan last November, I had my anomaly scan 2 weeks ago and there were no soft markers for DS at all, I say take the odds with a large pinch of salt.

I had a 1: 75 with ds and had the other test, can't remember its name, but similar to an amnio. When they scanned me it had dropped to 1:30, we got the results a week later and no downs. Afterward I wished that I hadn't had any scans etc it was all soooo stressfull.

Glassofwine, I think your thinking of the CVS test.

I am in Spain too, and I presume that she has had a Triple Screen blood test. That is normally the first step. Mine came out as 1 in 29 (I am 38 years old). We said no to the amnio, but level 2 ultrasound detected no markers at all. There are many false positives with this test. In Spain, you do the Triple Screen blood test, then an amnio if you want to, then the level 2 ultrasound (where they will check the nuchal fold, heart etc). What they don't do is reassess the odds, like I believe they do in Britain: they simply say that they have / haven't seen anything untoward after the scan.

Yes, I think it's the scan she's had so far, and is now awaiting an appointment for an amnio as far as I know.

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