NIPT result is trustable?

[Jitha]

Hi all,
I am 13 weeks pregnant and we had our NIPT done by the NHS last week because the Nuchal Translucency scan came back as high risk (1:79) for
Down syndrome (trisomy 21). We just received the NIPT result which came back as a low chance/risk but I'm still worried about how reliable and trustable the NIPT results are (although they say 99.7% accurate). Did anyone encounter any scenario where the NIPT result contradicted the actual outcome? Please give me some advice. Thanks

Hi, OP. For Downs Syndrome, NIPT is considered about 99% accurate so if its low risk, you can be fairly certain baby does not have Downs. Edwards and Pataus are different and they don't have quite the same assurance.
If you absolutely want to know and don't want to take the risk, you can opt for amnio which does carry a small risk of miscarriage, but is the gold standard.
I'd be very reassured in your shoes.

I had high risk with my first pregnancy and also did the nipt. It came back as low risk, like for yourself.

I was also worried and did a lot of research. Basically they can miss only like 1:1000 where they tested dna from placenta and placental and baby’s dna are different (extremely rare, maybe a vanishing twin). It says 1:1000 but I could only found 2 documented case in 10 years or something like that. It’s considered highly unusual so I wouldn’t worry at all.

my baby was fine and has no issues.

now going through the process again with my 2nd. Need to do the test soon.

I would ask what result, blood or nuclear measure gave you that risk.

if it’s Papp-a then independently of down, low Papp-a gives you risk of preeclampsia, low birth weight, pre term birth. That’s what I had and baby had low birth weight. You need extra scans in the 3rd semester to keep an eye on the baby’s growth. My baby didn’t grow at all in the last month and I needed to be induced.

ask them what gave you the high risk and if that has additional risks, independent of Down.