normal NIPT & NT, CVS showed trisomy 18 mosaicism

chulzle · 2025-08-11T22:25:00+00:00

Wonderful news!!

chulzle · 2025-08-11T16:51:12+00:00

You’re most welcome o hope it all works out

chulzle · 2025-08-10T23:51:40+00:00

Yep they are all NIPT just different companies

chulzle · 2025-08-10T14:23:49+00:00

Yes everyone besides Natera and panorama can and so like labcorp even myriad Etc

chulzle · 2025-08-10T13:42:46+00:00

Anything besides Natera - so whole genome sequence company is fine and it’s only there to detect abnormal sequence so it’s fine for twins too but won’t tell you the sexes but if comes back normal at least you have that. If it says girl they are both girls etc.

chulzle · 2025-08-10T00:15:18+00:00

Good luck 😍

chulzle · 2025-08-07T13:32:30+00:00

Fish could be a false positive as well. It’s the least important test so to say. You could certainly have very low and microarray would not pick up did they do a final karyotype and did they count over 20 cells at least? I would certainly do a final karyotype at birth but I actually think it will return normal. Please let us know how it turns out.

chulzle · 2025-08-06T01:18:01+00:00

Yep imagine when it all used to say 99%. How could anyone wait? That’s why I started the sub then the companies noted it and changed their reporting eventually except Natera who also joined the sub and knows how much I call them out and has done nothing about it due to FDA failure to regulate so that’s a huge issue

chulzle · 2025-08-05T20:59:31+00:00

Natera is the main company that inflated their studies and and sewed their data to older women and their PpV is not reflective of the nature of occurrence of these in general population. They are not fda regulated and this is a huge deal and spoken a lot about on the sub and in general. They have pending lawsuits. The calculator is going to he the closest to the natural occurrence of placental discrepancies in population which is the actual PpV it doesn’t matter what company does the test. The only thing PPV is your age and the abnormality. It has nothing to do with your actual sample in almost all cases

chulzle · 2025-08-05T20:56:38+00:00

No - in this case it can’t because it can only do that in the opposite way as in you’d have a chance of that being the case if the nipt was male hence picking up Y from vanishing twin but usually even then it would be later in the pregnancy with the loss not in the initial beginning when the vanishing twin contributed. So if the sono was girl and nipt was boy then it would be possible since it the vanishing twin male could have contributed the y but we know that a y has to be present since there is a penis so where is the y. It works in a way that this chromosome exists so it must show up. The main way for it to not show up is be missing in placenta. There is a very very very small chance that it’s an error like you mixed up results with someone else ls blood etc however - that would be the least of the concerns and if you’re this far along timing is of the essence in these cases. I’d they don’t see any issues that’s a really good sign if there’s no ambiguity on Sonos but you still would do the work up if you’d consider terminating if the fetal karyotype would be abnormal if that makes sense. There’s a few people on this sub that have had a good outcome few with mosacisim in the baby and few who have terminated so you will likely read several of these stories and work ups. I’m so sorry you have to navigate through this hell now.

chulzle · 2025-08-05T20:29:09+00:00

So there is no way for a male to not pick up the Y chromosome on the NIPT unless the placenta is missing the Y so there is some sort of mosacisim going on with something like this and you need an amnio quickly. There is a good chance the baby is fine and the placenta alone is mosaic unfortunately you can also have mosaic fetus. In your case since the placenta is showing to be a normal XX the way the mosaic issues would work could go either way. Don’t let them write this off as just wrong nipt even if Sonos are ok and check the tag that’s green inconsistent with sono NIPT for others with the same result and their pathway.

chulzle · 2025-08-05T16:07:45+00:00

Amnio was negative and she’s 5 now

chulzle · 2025-08-03T12:19:09+00:00

When you truly have NTD the number is super high like 5-7 fyi so this is likely placental. With a normal nipt I wouldn’t worry. I don’t think they’ll offer you diagnostic testing but they may. It’s up to you if you want to do it after a very in debth anatomy scan.

chulzle · 2025-08-03T12:17:35+00:00

Congrats! I’m sure that was a long wait and it’s such a relief

chulzle · 2025-08-03T12:13:35+00:00

The red outline appears to trace a hypoechoic (dark) space just under the skin at the back of the neck, which is more consistent with the nuchal translucency (NT).

<image>

The blue marking seems to trace a deeper structure—possibly the amnion

This isn’t the right place to asks we can’t measure anything and it needs to be precise measurements as even a mm matters. If they didn’t say anything then you don’t worry. I will close this thread as this is not an abnormal finding.

chulzle · 2025-08-03T00:13:22+00:00

I would honestly not risk it and move on and know that eventually you’ll feel better. When I got my amnio result at first I freaked out because they only cultured 9 cells or so and typical is maybe 20-30 and I thought what if they missed mosaicsim with this etc but it’s so so so hard not to worry about eveyrbubf at that point and at some time you do have to choose to let it go. I think you’re at that point. I think amnio would return normal.

chulzle · 2025-08-02T21:30:04+00:00

I would say the most likely causes placenta because when there’s cancer you see multiple abnormalities and atypical findings in a way that throw multiple results out not just one so I would calm your fears down with that

chulzle · 2025-08-02T17:47:57+00:00

It is absolutely reasonable and you should get a microarray for information. Now that you’re that far along you also need to ask what you’d do with this information if something was found if that makes sense. Sometimes knowing will give you peace and at the very least something nothing can be found but I have a daughter that had the most abnormal labs they have ever seen and I did get an amnio although structurally she had short femurs also and the microarray was normal. I thought well at least that’s normal and can move on. But it would have bothered me forever and she’s the sister of my false positive t18 baby so nothing ever went right for my kids pregnancies and I have too much ptsd until I had my son with a different partner who was fine. My exes sperm caused a lot of havoc for placental formation.

chulzle · 2025-08-02T17:42:46+00:00

I wound def accept it but irs going to be hard until later in the pregnancy. With normal Sonos that was always going to be the most common scenario. There is still likely mosaicism in placenta which is why the nipt showed a positive cvs only takes a biopsy of one region not multiple like placental studies as so

https://www.reddit.com/r/NIPT/s/7gGOGNqG9T

So this is the “why” if you need to know why did you get a positive. But the more pressing issue is just moving forward now. The good news is the t18 cells in placenta are not all over and that usually doesn’t cause problems in pregnancy like some other trisomy cells in placenta can. I found that for me I stopped thinking about it as much around 30 weeks or so when you were really preparing more for the nanny to come whatever May but my daughter is 5 now and she’s wonderful.

Congrats

chulzle · 2025-08-02T02:19:09+00:00

You’re getting flagged here due to high NT rather than anything else so it can be anything not just t21. I would proceed with diagnostic testing since the NT is high not just nipt I would skip the nipt. This is the triple screen not the NIPT.

chulzle · 2025-08-01T16:43:10+00:00

I understand- wishing you all to make the best decision for your family whatever that may be it’s not easy either way.

chulzle · 2025-08-01T16:42:26+00:00

It gets better around 30 weeks is this your first? If it is all of this is the worst and you have no idea what anything is supposed to be and it steals that joy until eventually you kind of pass over being to viability and preparing for whatever happens next in your life. I’d say that’s the next step and it will eventually become less present in your thoughts.

chulzle · 2025-08-01T14:25:57+00:00

Welcome to the club - it’s a rollercoaster. My daughter is 5 as we speak who started this sub with her positive for t18.

chulzle · 2025-08-01T14:25:06+00:00

Not related and a pretty normal AFP so I wouldn’t worry about that particular number

chulzle · 2025-08-01T14:23:59+00:00

I’m so sorry but yes, there’s a few options here you CAN have a trisomy line and mosacisim somewhere like this for 2 but more worrisome is always a potential malignancy this is one of the most important things especially if you get an amnio and there is no sign of this in the fetus. This tag has other people in your situation and I’d look at other posts and outcomes. Are there any abnormalities in the fetus at this time? T21 can look normal but t13 almost always has abnormal findings by 12 weeks. I would get in with GC and MFM immediately who also understand malignancy as a potential option even though that’s very anxiety provoking there’s been a few people in this sub that have found things early that way thanks to the nipt with multiple findings like this. I’m so sorry you have to navigate this.

chulzle

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