Hi! I’m so sorry you are here. Everyone provided lots of help and advice in the comments. I do want to say that if it’s confirmed T18 via amnio, I’d consider getting genetic testing for yourself and your husband. Given the previous miscarriage, something else could be at play here. Could be bad luck, could be genetics. Good luck!

While 1:70 is elevated and scary, it does mean that 69 babies did not have T21. Take a deep breath, numbers are on your side.

…what??? What am I missing?

Hi… I’m so sorry you are here. To be frank, HLHS is probably one of the most severe CHDs and long term survival is bleak. There’s a mom on TikTok with a 1 year old with HLHS; I’d look her up. Do as much research about longevity of life for this one. Good luck and I’m sorry 😭

Anything accompanied by an elevated NT is a big sign it could be a true positive. 3.1-3.3 is on the small side of elevated but it’s still really high, comparatively. Probably like in the 98%. I would recommend proceeding with an amnio. When I hear of rare duplications or deletions, it’s usually accompanied by serious mental and physical issues. Even small can be significant… I’ve done an amnio and it was easy. Risk is very low. Good luck ❤️🙏🏼

Amnios are a fetal diagnostic. Not sure why they are re running tests but maybe they just want to be sure? Different doctor needs to see the results for himself?? I’m not sure why though…I wouldn’t worry at all if you had an amnio done. Especially if it was something like DiGeorge, which is common enough that it’s tested in expanded NIPTs. If they were sure it was a really random/rare issue, I guess I can see them specifically testing that gene but I’m at a loss as to why they’d repeat a diagnostic test.

Sounds like a true positive to me. Wish you the best ❤️💔 I also had a posterior or anterior or something placenta and I had two failed CVSes. So I get it. More waiting. But If you had an elevated NT or CH, it’s a pretty good indicator of a problem.

She built a really nice office “boardroom” a couple years ago… where did that go? She also has a clothing try on room. Could she put a desk in there? That’s two work “rooms” lol

Amnio was painless and quick. You’ll be just fine!

Wait.. so she accidentally terminated a healthy baby? Even after a positive amnio?

I’m confused… was your NIPT low risk or high risk with 82% PPV? It can’t be both. So either one medical provider is misreading it entirely, or they are confusing it with your maternal serum screening…?

If you have a positive NIPT, as it seems like you may(?), there are a lot of soft markers accompanying that high risk NIPT that makes me think it’s a true positive. Only way to know is with an amnio!… especially if you are thinking about TFMR. Good luck 🙏🏼

Edit to add: I’m happy your second provider is doing a feral echo at 23ish weeks and MRI at 27. Those are appropriate timelines and they are already taking quick steps. Sounds like you are in good hands now (: but idk wtf your other provider did/said?!

My cousin had a baby with TGA (transposition of the great arteries). He had open heart surgery at 2 days old that went off without a hitch! Now he’s a normal, bubbly, silly 2 year old that gets into everything. Tons of hope!!

At least they can’t get any dirtier/more scuffed up than the way they come new 🤪🤪

I like that comparison to coffee!! Definitely true… humans seem to tolerate duplications better than deletions (:

Most OBGYNs don’t take an NIPT until 11-12 weeks to avoid any FF issues. Really annoys me when I hear that they are drawing so early… they should know better. Glad it all worked out!

The chances your daughter has T21 after a positive NIPT is about 95%. However, since we see a lot of T21 NIPTs in here (it’s the most common genetic abnormality), we also see a fair amount of false positives. I hope you are one of those! Good luck… the waiting is the worst part

I would ask this question in r/genetics. They are sometimes helpful with specific gene mutations! And can talk about the de novo chances vs hereditary

I’m really annoyed that Amory didn’t ask Marlyne’s friends more about her relationship with Sofia. It makes sense NOW that they’d call her a bitch and a snake, since they think she killed Marlyne. But how was their relationship prior to the murder? If it wasn’t nearly as good as Sofia is saying… that would tell me a lot.

There’s a chance but I would say your FISH is pretty definitive, especially if it found XXX in all 50 cells. The karyotype could find some really high level mosaicism but will likely be reflective of the FISH. So sorry 😔

Huh. Interesting…

What would be really helpful for this sub is a pathologist who looks at NIPTs could tell us their parameters for identifying T21, T18, T13… etcetera. I agree with you, they probably just want to err on the safe side and stress a lot of people out versus the alternative: miss a really big trisomy or problem with the fetus. I can almost picture a pathologist squinting mildly hard at one woman’s NIPT, seeing something slightly off with chromosome 13, marking down T13, and then moving to the next NIPT. They probably can’t spend too much time on each test due to the sheer volume of tests. Thus, the term “screening.”

The *ss really threw me. Can’t we just say ASS? We are all adults and id hardly call that a bad word 😂😂

Hi! You have a barely elevated NT, which is a good sign in terms of statistics. But since you terminated for a genetic abnormality in the past, I would absolutely get an amnio to rule out everything!

This sounds like CPM, in your case. Glad it all turned out okay!

Not from experience, but my two cents. Don’t downvote me everybody… but my guess is lab errors happen more frequently than we know. When people get false positives on this sub, we often think it’s a case of CPM but it could be a simple lab error. Mix ups with the tests. Mixups with identifying T21, T18, etcetera due to simple pathologist error. There’s many reasons. Humans are conducting the tests so human error is definitely there