Does this sound right? We chose NOT to test...

[LillyBugg]

for Downs Syndrome and yet my report has got the result on it for DS. Now the result is screen negative but I can't of feel that's not the point. We specifically chose not to do that part of the screening. The template letter includes Down's syndrome, patau's and Edwards, as does the full report. Has an error been made or is this standard practice because it was negative?

If you have the results for t13 and t18 reported, even at low risk you could easily see from the report if the papp a was low and the hcg was high.

Your understanding of the specifics is better than mine. But basically if you opt then for Patau/ Edwards only basically the test is done, the results are there but you just don't find out about them and are choosing to have them withheld rather than refusing a test. I wonder how many people understand that and for me understanding is key to consent.

It's an odd policy as I said above. It makes me wonder if it's to do with encouraging a higher take up of nuchal screening.....

Basic I think that's what I'm saying. It's hard to report one (t13 and 18) without inadvertently reporting on the other. Even without the 'positive/negative' screen part.

I seems the trusts that do this (and I know not all trusts do) is setting itself up for difficulties and mistakes to be made more easily.

I do understand the consent part of the discussion but I think we can all agree consent was not given for reporting of t21 yet it was reported anyway. However, in all medical cases I think there are degrees by which mistakes are made by professionals/labs. In this case I do think it was an unfortunate mistake but it's easy to see how it's happened (compared to some other, more serious mistakes that can and are made by hcp)

Yes, easy (reading your description) to see how the mistake COULD be made, and all the more reason to point it out so they can put a more foolproof system in place.

Agreed shalli. I'm not sure how, maybe a sticker or note if some form to say results are not to be discussed with the patient.

I'm not sure it is possible to only test for singular trisomies in blood (in terms of combined testing, I imagine it can be done as the nipt get more advanced) as it is one set of blood results that are then interpreted to give a risk level.

But there is no 'foolproof system'

What happens when they get to the 20 week scan and notice a small chin and heart defects?
Pretend it isn't there, or tell you it can only mean Edwards and definitely not any other sort of trisomy issue?

And when the screening results indicate Downs but you have your sticker and are asking for a home birth, then what? They hint that you might be high risk but don't say why, or go ahead and let you have a homebirth with all the additional risks that entails for a DS birth?

I appreciate the various posters who have spent all their time philosophising and/or studying animal medicine in order to give us their definitive options on this but it really bears no relation to the reality

Wouldn't the more productive course be to point out how unrealistic it is to expect to never know if you're having a DS baby while still wanting full screening and scanning for everything else

There can be no foolproof system around it. How hard is it to see that?

Very good point spare.

As someone who got clear combined screening results but had soft markers at a 20 week scan at that point there is absolutely no way they could tell it was Edwards and not Down's syndrome. They said it probably wasn't but at that points downs would have been our 'positive' outcome.

I think you are right actually spare. Thinking about it in those terms I can't see why you have the option to just test for Edwards and pateu. It opens up a can of worms in terms of how to 'keep' it from women if they come up high risk.

Saying that, my disclaimer is that I'm coming from a very pro screening point of view. I respect people's right to not have screening although I don't always understand the arguments

For anyone who is interested in the outcome...I spoke to a midwife from the screening department who looked into this for me. She was extremely apologetic and confirmed that the process had failed somewhere along the line. She still has a few more staff to talk to but believes that what happened is only one of two forms were given to me to complete which means that the lab had to process results without a form so did the standard full screening process. She is currently looking in to why I was only given one form when I should have had two. The second form is clearly missing from my file that she can see so this is how she reached that conclusion. I also do not recall signing two forms, only one.

She said it has been recorded as an 'incident' and she can only apologise. I confirmed that I was not angry/annoyed etc but more concerned to highlight the error which she was grateful for.

That's good. I'm glad they've managed to identify where the process went wrong and can stop it happening again.

Well done OP!

Complain!

I opted out of all chromosomal screening and it was done anyway. It's wholly unacceptable to conduct any testing or treatment without consent!

Roo