Freaking out. NT scan 2.4. NIPT negative.

[pookiedoll]

What is the chance that my baby could still have down syndrome? Dr. ruled out DS but why am I not convinced? She said could be heart disorder and to wait for 16 week anatomy scan to see more details. What would you do?

At 13 weeks 2.4mm is at the high end of normal, but it's still normal, from my extensive googling they only seem concerned if your NT is more than 3. From a few studies a measurement of more than 2mm was linked to a slightly increased risk of heart defect (4.8 in 1000) compared to 1.8 in 1000 for measurements under 2mm.

My babies NT was 2.4mm at 13 weeks and no-one has mentioned anything to me about it - I only googled because I Google everything and get myself in a state. We came back with our bloods as low risk for downs (1 in nearly 8000 chance) and 1 in over 100,000 chance for Edwards. I was told that NIPT was basically diagnostic so I would say trust the result. The alternative would have a far greater risk to your baby than it seems your risk of downs is.

I don’t think that sounds high at all... ours was 4.7 and CVS ruled out any abnormalities. Did you get a likelihood rate with your bloods combined? I definitely wouldn’t have CVS based only on that as the risk of miscarriage is significantly higher than your NT risk.

I think you’re very low risk based on what you said.

Trust your NIPT. They are substantially more accurate than the combined screening tests.

If your NIPT says your baby does not have DS then I agree to trust it. There are other chromosome abnormalities and other issues that can come to light at a later scan but they are thankfully quite rare.

The dr. basically ruled out down syndrome based off my blood test which came back negative. She said its 99% effective. Maybe I'm crazy but I worry about the what if its wrong. She told me my options which would be to do CVS/aminiocentisis or to wait for early 16 week anatomy scan. I asked her what she would recommend and she said waiting for the 16 week scan. She said although its borderline its not elevated. And that the 16 week scan would see if there are any heart abnormalities. She said the nasal bone was normal and everything else was normal. I'm just so upset, imagining the worst. I'm 40 years old and this is my first pregnancy. I don't think i'm going to do the CVS. I think I'm going to wait for the 16 week scan. I just worry whether i'm making right decision or not. I hope I'm just overreacting.

What about getting the harmony test done? Or is that what you've had?

I think your doctor has unnecessarily worried you because 2.4mm is not borderline.

NIPT should be trusted, it is 99.5% reliable.

I am same age as you, 40 and 6+2 with first DC. If I got those results I’d be over the moon! I definitely wouldn’t do an invasive test.

ooonicorn - not sure how to reply to your message directly as I am new this board. I had the Materni21 test which I think is the same thing as the Harmony test right?

My baby's was 2.4 as well. Nothing was said or written on my notes and I'm not worried. My DD's was the same and she's a very healthy 7 month old 😊

You ladies made me feel a little better. I prayyyyyyyyy all is ok.