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NIPT High Risk 97% for downs - anyone had a false positive with these odds?

8 replies

Tigs1982 · 21/12/2019 18:23

Hi mums!
I have had an awfully hard week or so. I did the NIPT and was waiting anxiously for the results. This is my second pregnancy with my son having a risk of 1/253 with the 12 week ultrasound and bloods. When I did the NIPT it came back all clear but it was a very stressful week waiting. For that very reason I wanted to get it done asap before I did the 12 week ultrasound and bloods.
I was planning on doing it at 10 weeks however my dr told me to wait til 11 weeks to make sure there was enough baby DNA in my blood stream which I did. Anyway, a week later I got a call from the lab saying the bloods had been compromised and I needed to repeat the sample. This in itself freaked me out as I thought how strange that could happen, and of course started thinking the worst. A week later, ie on Wednesday (making me 13 weeks) I got a call from the lab saying i tested high risk 97% probability for Down Syndrome and I needed to speak to my dr asap.
My dr has said it´s extremely accurate with negative results however with positive results it´s very sensitive and that I need to diagnose with an invasive test.

On Thursday I did 12 week ultrasound and the CVS. the ultrasound showed normal markers- ie heart beat normal, height normal and normal NT. I am still waiting the results of the CVS which I won't have until next Thursday or Friday.

The uncertainty is making me so anxious and sick to the stomach. We were meant to be celebrating this new baby this christmas and instead all I want to do is hide from all my family and friends until we know what the result is.
I guess I'm looking for hope that our baby will be in the clear. has anyone else ever gone through this where the odds are so strongly stacked against them?
I hope all other mums out there who might be going through something similar are handling it better than me- I'm like a zombie, my baby boy (who is only 14 months) keeps coming and giving me cuddles as I can't stop the tears rolling down my cheeks.

OP posts:
evilharpyinapeartree · 22/12/2019 09:42

I have no experience of this but wanted to send you lots of love. I can't imagine how you must be feeling. Hope you have people in real life who will support you until you get the results Flowers

xtinak · 22/12/2019 10:10

That sounds incredibly upsetting and stressful. I didn't have the NIPT so no direct experience. A friend of mine wanted it but was told that in her circumstance it wouldn't be accurate and so had to wait for the other tests. I wouldn't pretend to understand the science behind it, but it's terrible that there was this mix up at the lab and I suppose in the back of your mind that could call into question the reliability. I'm really sorry you're going through this and I hope the results come as soon as possible.

Tigs1982 · 22/12/2019 11:31

Thank you for your thoughts and kind words. I actually live in Spain and all my family is elsewhere. my in-laws don’t know as if we get the wrong result will likely terminate as I don’t think we would cope for that reason we haven’t told them anything yet. My husband is doing his best to support but I don’t really think he understands just how low I am feeling.
Thank you 😊

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Tigs1982 · 22/12/2019 11:35

Yes, it totally makes me question the reliability but in saying that I guess I’m looking for any chance they could be wrong, if we got the all clear I wouldn’t even question it. The waiting is awful and this time of year especially very hard

OP posts:
Tigs1982 · 29/12/2019 21:19

For anyone that may be going through this in the future and looking for answers I am updating. Unfortunately our CVS biopsy confirmed our baby girl has downs so I guess the Harmony test is accurate despite me trying my best to prove otherwise.

OP posts:
birdling · 29/12/2019 21:31

So sorry Flowers

Ellathechristmasfairy · 29/12/2019 21:46

My child has Down Syndrome. Message me if you want.

SomethingNastyInTheBallPool · 29/12/2019 21:49

My lovely little girl has DS. I’m happy to chat if you would like. xx

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