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High risk of downs - not sure what to do next

8 replies

Cookiemonster13 · 01/11/2025 12:56

Hi all,

I had my scan on Wednesday (13 +4) and all looked fine. Nuchal measurement 2. Got a phone call yesterday saying result from combined screening test puts me at a high risk of Down's syndrome (1 in 51). Looking at results Pappa seems fine 1.07 so can only imagine it's the HCG that is causing concern and my age 41.

I know there is a do nothing option but I need to make a choice as I think it would change the outcome for me. I can have the NIPT or amniocentesis. I can't decide what to do I guess the risk is less than 2% but that doesn't mean it won't happen. The NIPT obviously less invasive but I keep thinking what if I'm in the 1% inaccuracy. Leaning towards amniocentesis so I get an answer but what if I harm the baby. Anyway has anyone been through this. I also can't have amnio for another 2+ weeks so would need to ask for a referral.

OP posts:
Cookiemonster13 · 01/11/2025 13:12

Hospital just confirmed that my HCG was very high 4.2

OP posts:
SalmonOnFinnCrisp · 01/11/2025 13:15

Personally...
I would NIPT asap (privately if necessary) then go from there.

There was a thread on here a few years back about a woman who did amnio, then was in the unlucky 0.5% or whatever and did miscarry as a result and then her test came back negative - really heart breaking stuff.

Good luck 💐

Outside9 · 03/11/2025 00:51

From my personal experience, do the amnio.

KittytheHare · 03/11/2025 00:57

I would do the amnio - it’s the only way to have a definitive answer. Risk is miniscule

nats2010 · 03/11/2025 01:03

As above poster, from personal experience I would do the amnio. I've had x3 of them done before.

Anusername · 05/11/2025 17:08

Why not do the NIPT first and if it comes in as low risk, then do nothing?

LilacWhisk · 07/11/2025 18:14

The NIPT has a high accuracy rate and is a simple blood draw from you. I've had it done after them spotting several markers associated with Down's Syndrome and the NIPT showed high risk of T21, which was accurate.

rebecca24y · 12/11/2025 10:46

I had a 1 in 24 chance last year and took the nipt as the amnio terrified me! I have a completely healthy one year old boy :)

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