Soft markers - impact on risk?

[Plateofcrumbs]

Hi all

I'm having a panic here.

From the NT and blood work after my 13 week scan I was given an adjusted risk of 1 in 98 for Trisomy 21. Officially classed as "high risk" but it didn't seem too scary. However I also knew there were some soft markers they were concerned about, and having read a bit more these seem to have very high association with T21.

Does the "adjusted risk" take any consideration of the soft markers? Should I take any comfort from the 1 in 98 result? Or do the soft markers need to be factored in as well. One of my soft markers appears to give a me a chance of more like 1 in 3 to 1 in 4!

Hi Plateo. So sorry you are being put through this. I think it varies from hospital to hospital as to what they include in the calculation. I just had a 1/15 result (now all clear) and I know the absence of soft markers was not used in that calculation. But some London places do include them. Your results should have been explained to you. You could call ARC for decent advice. Are you having CVS?

Thanks grobags. Results were explained but it was all a lot to take in. They explained the overall risk but I didn't really take in what was factored into that calculation (if indeed they told me).

The soft marker I'm concerned about is quite rare so there don't seem to be large scale studies on it, but in the study I have seen over 1 in 4 foetuses presenting with it had Trisomy 21. I can't really imagine it's factored into the programme for risk as it's so rare.

You're right I really do need to get more advice. I was going to have a CVS but they couldn't do it on me (all my insides seem to be in the wrong place) - I'm going back on Tuesday for them to attempt it again. I'm having Harmony and if they can't do CVS I will go back again at 16 for amnio.

Moral of this story is never google. I was feeling calm enough before reading this study but I'm beside myself with worry now.

At least if they can't do CVS I'll only have another week to wait for Harmony results.

Oh poor you to have a failed CVS. Whole things is bad enough without having to go through it twice. If you don't mind me asking how old are you? 1/98 can just be driven by age alone. Try not to get too hung up on one study - it may not even be a reliable study/may have poor sample sizes. In my case all my risk was driven by bloods which are notoriously unreliable as I later found out. Also soft markers are just that - soft! Different sonographers see different things. if I were you I would book a scan here: www.fetalmedicine.com/fmc/contact/ if the CVS fails and you can afford the cost. They look at everything and have the world's leading expert so can really reassure you. And do call ARC - they will give you expert advice. It really is a rubbish situation to be in. But 1/98 still means a 99% chance all will be well.

It's such a stressful situation to be in and I really feel for you. What soft markers showed up on your scan? I only ask because my DS had tricuspid regurgitation (leaky heart valve), which is a marker for T21, and all was fine. In isolation many soft markers are likely to be insignificant. Was the nasal bone present?

Sorry, just re-read your second post. If I were in your shoes I would await the Harmony results before deciding whether to have a CVS/amnio. If Harmony is negative, why take the risk of an invasive test?

The trouble with Google is that it's there and its a double edged sword. I'm a firm believer in knowledge being power, and there is information there, but Google is also full of worst case scenarios and links to stuff that you DONT need to see.
Id not try CVS again. If you can afford the harmony test and are prepared to wait for a possible amnio, Id sit it out.
That said, I know that its easier said than done. I had a 10 day wait for CVS then the wait for results, and I was pulling my hair out by the end. Its a shitty situation whatever, and you have my sympathy.