Down's syndrome test - what to do

[MumChats]

Long time lurker, but first post! I'm 8 weeks pregnant and trying to decide whether to have the test for downs syndrome or not.

I'm familiar with down's syndrome but have no lived experience of it, no friends, relatives etc. It seems to me that people with down's can live long, happy and relatively 'normal' lives so for that reason we feel we would want to continue with a pregnancy of a baby with downs (so the test is pointless).

I just wonder if I'm missing something here. The fact that a test is offered to diagnose it kind of makes me feel like it might be worse as a condition than I know of. Would any parents of children with downs syndrome be willing to share some experiences, and give me an insight into life to help us learn more? Any thoughts much appreciated.

My last baby had DS. I did not have ant tests despite being aware that I was high risk due to age. He was stillborn just over halfway through the pregnancy, probably due to significant disabilities (heart and bowel).
I am by now at peace with what happened.
Glad I did not have to consider whether or not to continue the pregnancy and the effect a severely disabled sibling and a mother who would frequently have been absent due to hospitalisation would have had on my other kids.
The variation of outcomes and ways children with DS and their families are impacted upon is huge.
The test will not tell you anything about the co-morbid conditions.
Also not all babies with DS survive pregnancy, birth and early infancy.

It depends on what you would do with the information if you were tested. As the test also looks at other syndromes Edwards and Patau's.

For me and my husband we didn't get the test, you can get false positives and false negatives and we wouldn't have an amniocentesis.
If the tests came back with anything we wouldn't terminate.

Have a look into these syndromes there is information on NHS websites and you should been given a leaflet regarding screening tests (my leaflet was on an app with my pregnancy records). You are correct that some people with down syndrome have little health problems and mild learning difficulties and lead good lives etc but on the end they can have heart problems etc xx

My combined testing for DS2 came back as high risk of Downs. That test is just a “best guess” based of various factors and not diagnostic. We were offered a CVS or amnio, which would be diagnostic however we decided that we’d be unlikely to abort for Down Syndrome and therefore did not want to risk an invasive test with a (admittedly small) miscarriage risk.

We did have the Harmony test, which again isn’t diagnostic, however it’s pretty damn accurate for Down Syndrome so we felt good enough for us. It came back as low risk.

The main reason we tested is because we wanted time to research and be fully prepared if we were to being a Down Syndrome baby home with us. Personally, we felt we needed to know.

It’s up to you, but if the outcome won’t change your decision that your proceeding with your pregnancy either way, then where’s the harm in having the test? It’s not invasive and I can only see benefits.

For a definitive diagnosis, OP, you can have a CVS done around 12-13 weeks or an amnio- done from 15-20 weeks- which tests for a wider range of disorders and is, therefore, more thorough.
I've had 2 CVS tests and 1 amnio, no risks or complications at all.
You just have to take it easy for a couple of days afterward.

@ChampooPapi I agree with @PrayingandHoping, the NIPt test is not 99.9% accurate - although that’s a really common (and frankly dangerous) misconception. It is about 99.7% sensitive and specific - which is not the same thing. The most important thing to be aware of w the test is the “positive predictive value” which is how likely it is that a positive result is a true positive. That % depends on the sensitivity (which is the chance of detecting a true case of Down syndrome) and on the amount of disease in a given population. So will be higher for a woman age 45 than 25 because she has a higher pre test risk. You can google “NIPT PPV calculator” for an idea of how the numbers vary. Can be about 50-90% for DS, usually lower for T18 and T13. Agreed though it is much better than the NHS test still.

@MumChats good luck with your decision either way - I think it’s great that you’re actually considering it properly before doing the test. Just wanted to say don’t skip the 12-13 week nuchal scan either way - there are lots of very important conditions that could be picked up on the scan.
Congrats on your pregnancy.

Thanks everyone for all your help. Lots to discuss with DP. We've not decided what we would do if the test came back high risk (as in would we go on to have further tests or not) so talking about that will help us decide but good point @LBB2020 that as DS is a range even if the baby was diagnosed at this point we still wouldnt know how it would present. We might end up just torturing ourselves by reading about "worst case scenarios" for the rest of the pregnancy!

@Madwomanuptheroad I'm so sorry to hear about your baby, and thank you for taking the time to share that painful story. I suppose I had quite a positive view of DS but to learn about the range of severity, and how serious it can be has opened my eyes a bit.

As PPs suggest I think I will do some more research and then have a long chat with DP. Thanks again everyone.

It’s lovely that you are taking the time to find out about the tests and what life with a child with Down syndrome could be like. There’s a lot a good up to date information on the Down syndrome Association website and also Positive About Down Syndrome. Also remember medicine and support therapies etc are so advanced these days even compared to say 30 years ago!
Good luck with whatever you decide x