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!!

What a shit situation for everyone, this shouldn't have happened and you are in the right to feel angry and aggrieved I would be. I would also make a complaint to PALS to get it out of your system. Start with the facts (testing etc.) and then end with your emotions (this has put me in stressful situation with my pregancy).

The question is will further testing change your mind about whether you continue the pregnancy. If no- probably don't bother, if yes then decide what threshold you would feel comfortable with.

Do not share on here what you have decided its a highly emotive issue for a lot of people and you can only do what is best for you. I grew up with a disabled brother and saw a range functionality with Downs and a range of family situations and abilities to cope.

100% this. I can’t work out if it’s (a callous) lack of empathy or lack of intelligence which is driving some of the replies here.

Have the NIPT test. I don’t know what lab only tests for three abnormalities. I had all of the genetic tests. It was sent off to a lab in the US and cost $900 years ago.

It wasn’t just one test - I also had the scans which can indicate Down syndrome.

My child required additional genetic testing after birth.

It can take some time before a child can be old enough to be tested after they are born because of the amount of blood required for the genetic testing. So all of that time you are left wondering what is wrong.

Yes, you should get all of the tests performed. I’m not sure why you would choose not to have every possible screening and why you didn’t want to have testing for downs.

I’ve cared for children with disabilities. Wanting to be tested for genetic or chromosomal abnormalities doesn’t display a lack of empathy or a lack of intelligence. It’s about making an informed decision.

We often see people with down syndrome in the media where they are out there living their best life. But having a child with a severe disability is not all sunshine and rainbows. It’s hard.

You have entirely misunderstood my response. Or, given your response, at least I hope you have.

I don’t disagree with anything you’re saying, my point was directed towards people that have acted as though she’s not in a complex situation, after asking not to be tested and then finding out that they are likely adverse results.

Choosing to be tested, or not to be tested, are both entirely valid options. That doesn’t mean that it’s not incredibly difficult for OP that she chose not to be and now has to deal with the consequences of that test occurring anyway.

I don't understand why you wouldn't find out. I wouldn't have terminated if my child had Down's Syndrome (allowing some scope to consider if that was co-morbid with e.g. major heart defects), but I would absolutely have wanted to know so that I could be as prepared (and so the medical team could be as prepared) as possible. There are lots of things we scan for that wouldn't change my decision to continue a pregnancy - limb differences, for example - but I honestly feel you're being neglectful not to find out all you can about your child's health. ESPECIALLY when the tests carry no risk - ultrasound and bloods. Amnio is different, I appreciate that. But even the bloods, some might refuse entirely if needlephobic, but you had some just not Down's? I don't get it. You're a parent now and in my opinion, parenting comes with a necessity to arm yourself with all you can to best prepare for the next stages and know your child, what they need and what their options are better than anybody.

Of course people can choose not to know. People who would not choose termination or don’t want to hav e a choice may want to find out at the birth. As babies with Down syndrome have medical need that can’t be predicted planning is not essential.

This was a big mistake on the hospital's part and you are right to be upset, but in choosing not to know surely you have already made your decision?

An NIPT doesn’t risk the pregnancy - it’s a non-invasive blood test. It’s just that this now gives the OP a choice to make that she doesn’t want.

If it helps OP @Lyndsey8880 then for reference, my initial scoring was really high but then I did the NIPT and it was really low. Initial testing is based on generic information to get the scores whereas the NIPT is factual. However, I had two weeks then of unnecessary worry and also I wanted to be informed and prepared as my choice. It is unfair that they have not respected your wishes and I would definitely complain in your shoes. Whether you choose to go ahead with the NIPT or not is a decision only you can make. It depends very personally on what the information would mean for you.

1 in 25 is 4%, so you have a 96% chance your baby doesn't have Down's. I think that's pretty good odds and would try to forget about it. Or have the extra testing and be more sure one way or another, if it gets to tests that have a significant chance of causing more problems then I would probably stop testing, the odds are really pretty good that your baby is fine anyway. But could you and your family cope with a Down's child if it happened?

My mum was full time carer for her sister with Down’s syndrome, who lived with me for my entire life until she died, and everyone from my mum to my aunt to the medical professionals and staff at the centre she attended daily referred to her as having Down’s. Do explain how you seem to have greater knowledge and experience of what is and isn’t offensive.

It doesn't work like that. The overall chance of having a child with Down Syndrome is 0.1-0.125% A result of 4% is 32-40 times higher.

I would be annoyed too, @Lyndsey8880 . Back when I had mine, we only had the triple test. Nuchal fold was being rolled out in some hospitals on trial. I declined the triple test on the basis that no matter the result, I wouldn't be having an amniocentesis.

The NIPT counts the fetal chromosomes in your blood sample. It has nothing to do with your age.

In the UK it’s called Down’s Syndrome and in the US it’s Down Syndrome. According to Wikipedia the US made this change in 1975 but it doesn’t say why. John Down was English. Both terms are used and I can’t understand why anyone would find either “offensive”. In fact I have seen comments that “Down Syndrome” feels a bit negative whereas Down’s clearly suggests it’s someone’s name.

No it doesn't.

Not always true. Some NIPT reports include maternal age in the risk factor calculation.

I agree and accept that Amnio does pose a risk to the baby (and im sorry for your friend) but it is still really really important for people to understand that NIPT in NOT an amnio. It stands for NON invasive prenatal testing. Amnio IS invasive. NIPT itself does NOT pose a risk - it is just a blood test. The result of that NIPT might mean further tests are offered that do indeed risk the pregnancy. But people need to be very clear of the difference (and I think most people are but some of the comments muddy it).

I am really sorry this mistake was made, and can understand your stress and concerns.

However, the NHS has a policy of candour regarding errors and HAS to tell you. It's to stop all the accusations and revelations of a cover up, of which it had obviously been accused of many times before.

It's unfortuneate the testing was done without your consent.

I personally would go forward with the further test to find out if my child is the 1 in 25. When I was pregnant with my son, I was adamant I would not abort, so what was the point of the test?

However, on reflection I went ahead. If he had tested positive for Down Syndrome, I could get prepared. Find out about best practices in breast feeding, arrange therapy and most of all adjust. There are preparations you can make if you know. I am very close to a couple whose baby's condition was a complete shock. I think it would be better to know ahead of time.

It’s disgraceful they tested you for Down’s Syndrome when you’d specifically asked them not to. To add insult to injury, the way this mistake was communicated was crap too.

I refused testing too when I had my last baby in my 40s. That was my decision and I mentioned it every time some HCP might think I wanted to know, eg at scans (nuchal fold). You should do what sits best with you, but if it were me, I’d push the result to the back of my mind, refuse the NIPT and any further testing, and make sure it was never mentioned or referred to again by any medical professional.

Just to nit pick - there was no additional procedure. The blood draw is the procedure and OP only had the one - the oversight has caused no clinical harm or additional procedures to the patient.

NIPT is non invasive and 0 risk (it's a blood test).

Personally I'd get the NIPT mainly because if your baby does have down syndrome there's an increased risk of heart conditions which it would be good if they could do enhanced scans for now in case any immediate treatment/ support is needed at birth.

Whether you did or didn’t want testing is a separate issue- you can complain but you’ve now got to decide what you do with the information. NIPT is non invasive and would give you additional information which may well provide reassurance and help you deal with uncertainty. It doesn’t necessarily mean it’s pushing you down a path to considering a termination.

For what it’s worth I paid privately for NIPT testing as for my second child the risks for Down’s syndrome came up at 1:185. That was higher than the threshold for free testing which was 1:150 at the time. I found it reassuring and made me much more relaxed for the reminder of the pregnancy.

Knowing in advance means you can have a fetal echocardiogram, be prepared and know if there is a heart defect associated. My helper has DS and had surgery at 2 weeks old, because they knew in advance his mum gave birth in the neighbouring city where they had a children’s hospital next door with a heart unit. Obviously was very worrying at the time but he’s not had issues since!

🙄