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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

High risk for Down’s syndrome and a bit confused and overwhelmed

7 replies

Lilacsinthespring · 14/01/2023 08:48

In many ways I am unsurprised because I am 42, but was still a bit shocked and upset to hear that I am high risk for Down’s syndrome - I am 13 weeks and 3 days pregnant and have had further tests, results expected later this week.

Due to my age I have already had the harmony test - had this on Thursday - and I thought the results from that would be definitive. From what they said at the hospital it seems not.

I’ve had further bloods taken at the hospital and it seems they go to the same place as the harmony test so I’ll probably get the same results back within the next week. But am I right that these aren’t definitive and just give an indicator?

I have been offered amniocentesis but this can’t happen until 15 weeks. If the results for this came back as Down’s syndrome and we decided on a tfmr , would this mean actually having to give birth?

So many questions sorry … just very worried.

OP posts:
CristinaNov182 · 14/01/2023 15:29

I was 38 when I gave birth the first time, 42 now, 31 weeks pregnant.

got high risk both times, higher the 2nd time. Nipt cleared both. If nipt gives low risk is highly accurate, but ofc it’s not a diagnostic. My 4 year old is all fine, and there are no markers or any other issue with my DD2.

I trust the nipt.

it has a higher chance of giving a false positive (so if it says high risk, it has a higher chance to be wrong so it’s worth doing a cvs or amnio) than a false negative, which is minuscule.

for your peace of mind you can do the cvs or amnio too. I didn’t as I researched the nipt and was happy with what I found.

there is also the 20 week scan where any markers or abnormalities can be picked up, again in case you don’t trust the nipt.

cvs and amnio are quite safe as well, think the risk of miscarriage was 1% in the past but now is half that.

I don’t know the options for termination.

at 42 there is no big surprise to get a high risk at the combined test :), sorry to tell you that. Even without any chromosome abnormalities, being older means the blood results won’t be as good as for a 20 year old. As good news though, it means more tests and more care will be given to older mums, increasing chance of catching any issue very early and offering treatment if needed. 85% of DS cases are undiagnosed and born to new mums, bc the combined test misses DS cases even when it gives a low risk. A 20 year old with low risk from combined test won’t do anything more, whereas me at 38 and 42 would have done the nipt regardless of what the combined test said.

the only thing to check now is how low is your Papp-a. If it’s under 0.5 mom you need to go back to dr and ask for aspirin prescription and extra growth scans. Look up low Papp-a and risk for preeclampsia, IUGR, etc. I had this but with aspirin it was all good.

good luck x

CristinaNov182 · 14/01/2023 15:31

*85% of DS cases are undiagnosed and born to young mums (under 35)

CristinaNov182 · 14/01/2023 15:35

www.enherts-tr.nhs.uk/content/uploads/2020/11/Low-PAPP-A-v1-11.2020.pdf

www.hey.nhs.uk/patient-leaflet/low-papp-a/

some say low means below 0.4, most say below 0.5 mom. Mine was 0.45 during my first pregnancy and I got IUGR and static growth later and baby was born at 2nd percentile, very small. But she put on weight after that.

SylvanianFrenemies · 14/01/2023 15:40

At this stage I would for for CVS. It is the closest you can get to being definitive.

I had a tfmr at 18 w. I gave birth but it was not like a full term labour. Just some cramping and then delivered the baby as my waters broke.

I wanted to do it this was as I wanted to see him, and I'm glad I did. However if you prefer not to I think surgical would be an option.

ARC-UK are great for information and impartial support.

anxietyfilledmum1 · 15/01/2023 17:43

Sending positive thoughts to you OP. I’m having the cvs test tomorrow and absolutely terrified. My results are very high risk and came back at 1 in 2. I’m 39 and expected to be high risk but 1 in 2 feels hopeless. I hope you get your results soon and they are positive x

ByDearBear · 15/03/2025 05:18

anxietyfilledmum1 · 15/01/2023 17:43

Sending positive thoughts to you OP. I’m having the cvs test tomorrow and absolutely terrified. My results are very high risk and came back at 1 in 2. I’m 39 and expected to be high risk but 1 in 2 feels hopeless. I hope you get your results soon and they are positive x

@anxietyfilledmum1 This post was over 2 years ago. How did everything turn out after 1in2 results? I hope you had a happy outcome x

anxietyfilledmum1 · 16/03/2025 15:54

ByDearBear · 15/03/2025 05:18

@anxietyfilledmum1 This post was over 2 years ago. How did everything turn out after 1in2 results? I hope you had a happy outcome x

Hi @ByDearBear Unfortunately we didn’t get the happy outcome that we were hoping for and I had a TFMR at 15 weeks back in 2023. I’m assuming you might be in a similar experience to me back then and waiting for results. Sending you lots of love and positive thoughts x

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