Does high-risk Down's screening indicate other problems?

[oasisL]

Our DS risk has come back as 1:100. So not low-risk but not very worrying either.

However my fear is that this indicates that there is something wrong other than DS - even though the midwife has stressed that the tests (US and bloods) are only looking for DS.

Is this a valid fear? I realise an amnio will show up other chromosome issues than DS, but are these more likely to be present with a high-risk DS result or are the two not connected?

I have no idea. But our story is that we decided to have an amnio based on Downs screening. The amnio was clear but the accompanying scan threw up major problems (not chromosomal either.) I don't know if this was coincidence but the consultant told us that differences in the pregnancy hormones that they measure can be associated with other conditions too.

I don't tell this to be scaremongering, it was merely our experience. You could talk it through with your community midwife or fetal medicine unit or arc. Many people here have found them extremely useful at offering impartial advice www.arc-uk.org

Good luck with your amnio.

Usually you would get risk results for Patau's and Edwards syndrome along with the Downs risks - i did in my results. These are much rarer conditions though.

My own experience is that the initial scan at 12 weeks and the associated blood tests are not an exact science. About a year ago I was given a 1:112 risk of DS. The nuchal measurement (2.8mm) combined with my age (37) and blood results meant I went down the amnio route. All came back clear and I am sat at this very minute feeding our gorgeous 6 month old son. Wishing you all the best in your pregnancy.

Thanks. The nuchal measurement was fine, and I'm only 32, so I think it's just the bloods throwing things off. I've spoken with ARC and they think it's probably just normal fluctuations in my hormones and that they'd be more concerned if the scan had thrown up something.

Think I'll call the midwife back and get some more clarity.

The combined result gives you a risk for DS but the nuchal can indicate other things (such as heart problems I think?) A very large nuchal measurement is associated with turner's syndrome - although it wouldn't be flagged up as a turner's sign necessarily.

things like an early bleed can affect blood test results.

Ok so having a normal nuchal measurement and everything else looking good is a good sign?

Realise some things can't be spotted yet, but if I hadn't had those damn bloods done then we'd be on a high right now having had a 'great looking' (sonographer's words) scan..

Realise 1% risk is still pretty tiny really and some people have much higher, but am finding it hard just to ignore it when my risk with DD two years ago was 1:3000-ish and I'm now classed as 'high-risk' (seriously, what warped world is it when a 99% risk of not having a particular problem is bad...?!).

No bleeding which I was grateful for at the time, although I'm upset about now!! Would be nice to be able to attribute it to that....

First - may I ask what your risk for DS was?

A bit lower than yours - 1:200ish. It worried me as the risks for my previous pregnancies had been much lower. However my risk wasn't classified as high risk - we had to request an amnio.

My ds ended up as a 1:13 risk of ds due purely to bloods. The amino we decided on was clear and he is one now with no medical abnormalities further than being tongue-tied.

I've been wondering this too, my risk was 1:350 which is classed as 'borderline' at least in some areas. My previous children's risks were far lower - thousands etc.

I know that downs syndrome causes a high HCG reading and a low AFP reading (I think that's right, anyway) but I am not sure what these can also indicate iyswim.

I didn't have the nuchal fold measured as my first scan was apparently too late, according to the other measurements the baby was off their scale and they changed my dates by 9 days because of this.

I have the 20 week scan in a week so am a bit anxious about finding anomalies there. I hope you find some answers, good luck x

Oasis exactly the same here. Previous ds was 1:10000 and something, second clear scan but 1:150 (borderline) at Triple test so paid privately for something called a Quad test (more detailed bloods and scan) and once again scan showed no problems but bloods came back very high risk so we opted for an amino. All was fine.

It's all so inexact isn't it....

I have read reports which suggest that poor results based solely on bloods are less likely to indicate DS than when combined with a scan, but I'm still fearful that there's something else causing dodgy blood results. I'm not actually that worried about DS: I'm really scared about something which renders the baby incompatible with life.

I think we're going to need to go private and get some more investigations: if there's a problem I'd rather know sooner than later.

Five - best for your 20 week scan.

I'm another one with two children with wildly different risks. My DS1 had a 1:8000 risk, my DS2 had a 1:15 risk. Both are chromosomally normal. I do find it strange how I could have two such different results for my boys, without any obvious reason for it!

I know what you mean Oasis, I'm not too concerned even if the baby has downs, I just want to know so I can prepare.

Thanks for the wishes. I hope you get some answers soon x

(ps I had the quad test if that's relevant)