Hospital tested for Downs even though I said no...

[Lyndsey8880]

Hi all,
Its been a day!!! Saw on my app yesterday I have low Papp-a so been expecting a call about my combined test results.
I had requested edwards and patau, same as I did with my daughter 5 years ago...
The screening midwife called and said I have some good news, and a confession..
The good news is your screening for edwards and patau came back as low risk. The confession is that you were tested for Downs. Im so sorry, I know you didn't request this. The paperwork was filled correctly but the lab went on autopilot and tested all 3. So now, do you want to know the Downs result and the next steps, or would you rather not know as requested..
Clearly she'd already given me the answer by talking about next steps..
Turns out my test came back as 1 in 25 for Downs.
I didn't want to know, and now im in the situation where I choose to have NIPT test to be more sure, or just try and ignore the fact that they've given me these results.
Been a stressful day!!

It's an oversight for sure, and yes it's been done without your consent. Out of curiosity, if you said yes to the partial testing why didn't you want the Down syndrome testing? Also calling Down syndrome 'downs' can be offensive and a bit insensitive.

Why is it that you didn’t want to know? Regardless of what the next steps might be, it’s better to know and make decisions or prepare

Oh wow! That’s a tough one to deal with. They should not have done that without your say so, but once they know what they do, presumably they have a duty of care to tell you? Something similar happened to a relative and it was all well in the end, but caused a huge amount of upset at the time. If you genuinely didn’t want to know, I’d stay as you are. They may well be wrong.

Surely because Patau’s and Edward’s are usually fatal whereas Down Syndrome is not? I would have terminated for Patau’s and Edward’s but would not have for Down Syndrome, so it’s understandable that someone may want different information.

I’m sorry OP - you should probably complain if you have the energy. It’s not really acceptable.

If it doesn't matter to you if your baby has Downs or not, then ignore the results? I am assuming that you would have continued with the pregnancy regardless, hence why you didn't want to be tested for Downs in the first place? If you are going to continue with the pregnancy regardless then there's no point risking the pregnancy by doing a NIPT

Surely if you didn't care in the first case you just carry on as you are?

The lab made a mistake, its probably incredibly rare that people consent to just two out of three of the tests. I dont see a big issue tbh. It's not like they carried out a procedure on you or your baby without your consent.

She probably should have worded it better but its almost certainly a unique situation for her too.

Well as pp pointed out if you were happy to continue the pregnancy not knowing if your baby might have Downs Syndrome, then that’s presumably because you would never have acted on that information? So what does this really change?

It doesn't change anything OP. You don't consider Downs Syndrome a big problem and anyway there's a 24 out of 25 chance that your baby doesn't have it. It's fine.

I really understand why you'd have conflicted feelings.

FWIW, I am 41 and I didn't have the screening. I'd done IVF and had the embryos tested - this is fairly accurate but not completely so. I knew the screening would be likely to give me a high result because of my age. I discussed it with my consultant, and my feeling was: ok, if you could give me a test that would tell me with 100% accuracy and no risk to the pregnancy that the baby has Edwards or Patau or Down's Syndrome, I would take that test. But since your test can only really worry me, I don't want it. I would have felt quite upset to be tested when I'd decided against it, so I absolutely sympathise.

I also understand that it is not as simple as 'oh goodness I am not worried about the results' versus 'I am so worried I would automatically terminate a pregnancy'. It's much more complicated.

What do you feel about going forwards? Something I found helpful is that, at the 20 week scan, they can look at the heart and see that it is healthy; they can look at proportions of the long bones and the cranium. I was worried that a baby with undiagnosed Down's Syndrome might not make it because of heart defects, so for me, the 20 week scan helped because at least now I know the heart looks good.

I don't think the OP has said that she doesn't consider Down's Syndrome a big problem?

(Just using the terminology that's been used here; describing it as a 'problem' wouldn't be my choice of terminology.)

I requested the same during my pregnancy, reason being that the quality of life for downs syndrome can be good, whereas the others would likely be very poor outcomes so my thinking was, I wouldn't risk NIPT for downs syndrome and wouldn't consider termination for that but the others I would want to consider the options.
If I'd eneded up in your position, I think I would have gone back to the reasons I didn't want the testing and would not have the NIPT.

NIPT doe NOT risk the pregnancy. It's just a blood test. Its tests after NIPT that carry a risk as NIPT is not diagnostic so an amnio is usually advised.

Babies with Edward's Syndrome don't always die.

There isn’t really any risk to having NIPT, it’s just a blood test

A problem as in something she would like to know about before proceeding with the pregnancy.

You don’t have to ask for the results. I can understand if it’s usually a combined test that mistakes happen as it wouldn’t be often people single out certain ones to test for and ones to not.
Why didn’t you just say you didn’t want to know?

OP, I didn't have testing for Down syndrome- understand where you are coming from. However in your shoes I would have the NIPT- you have been given information you didn't want but that doesn't mean it doesn't affect you.

There is no risk with the NIPT. If your baby has Down syndrome (which is still very unlikely) then you will be able to prepare and learn more about it.

I would also report the error.

Nor with Patau’s which is why I said usually.

Nevertheless Trisomy 13 and Trisomy 18 are a very different level of disability than Down’s

And I think it does make a difference carrying a pregnancy knowing you may be high risk vs not knowing. It changes OPs anxiety levels and it shouldn’t not have happened. Genetic risk testing requires careful consent.

Down syndrome can be fatal. If you get a diagnosis in the first trimester and go ahead with the pregnancy, I heard that there's a 50% chance the baby won't be born alive. That's something I'd want to know about.

Have the test. It is surely better to know if you have a baby with Down's syndrome in advance ? Gives you a chance to find out about the condition and what may / may not be different from a baby without it. I had nipt and it's a painless blood test and came back much quicker than I they said .

Yes, but doing NIPT puts you on the pathway to amniocentisis, which does - it's very understandable someone might not want that.

T13 is incompatible with life. Mosaic T13 sometimes has slightly better outcomes, albeit with catastrophic impact and substantially shortened life expectancy.

I just don't think it is this simple. Certainly, for me, it isn't.

You are wrong.

They did carry out a procedure (testing). The OP did not consent to it.

Absolutely but saying the NIPT itself risks the pregnancy isn't true, and it's important anyone considering NIPT understands that.