She made it sound as though the test would most definitely be a false positive. I pushed it, but she said that the test they use (Panorama) does not let you specify that fetal demise occurred. However, it was less of a move on my part, and more so an outright no from my OB. I also wondered whether not pursuing NIPT was a wrong move. Now that you’re this far, I would just have an amnio. If your nIPT was normal I would do nothing. But the issue is that nIPT looks for trisomy cells in placenta - nothing else does this and the triple screen labs don’t do this. But with that being said, EIF is not really a concern most of the time so Doing that for that alone essentially kind of sucks. This? - basically as someone who has been through almost every single scenario from bad scenarios to hitting the worst rare odds ever - I’d probably have an amnio and call it a day especially if this will bother you. This is a case of should have done this but it’s too far in the game for most things - bc if termination is on the table and what you’re looking for exactly? Are you concerned about the single marker or this being downs? What if it’s not downs but a microdeletion of unknown significance? What information do you want to know? What decisions are you making from Because I really think it should come back negative but obviously this is so late in the game I think doing nIPT now is moot point. So I think you could do the nIPT now to be honest. The risk for first triple screen is just too low. It’s better to go through a false positive then to miss an actual trisomy and deal with it at birth - speaking from experience of limbo of a false positive and having also been through TFMR after a normal NIPT for structural issues.ĭo I think this is Down’s syndrome? No. It has happened but it’s like a study worthy case of when it does due to the rarest form of fetoplacental mosaicism. I think not doing the nIPT was the wrong move bc yes false positives for happen but false negatives are just incredibly rare. Not seeking comments on mental health because I am FULLY aware that I am having trouble processing this information. I am a psychologist myself, so I am fully aware that I’m experiencing a high degree of anxiety. I have a very supportive husband and I see a psychologist regularly. Seeking information, perspectives, or similar stories. I was shocked to hear that I ultimately went from a risk of 1 in 3400 in the first trimester to 1 in 70 in the second! She is recommending amniocentesis at this point, which I’m strongly considering. I don’t actually have my results yet to know which hormones were flagged as abnormal, but they’re now estimating risk at 1 in 70. I also know I am outside of the “ideal window” for the screen, typically performed between weeks 16-18 (tho can be done up to 22 weeks). My understanding is that the quad test alone has more room for error compared to combining results with the first trimester screen. Of note, the lab made an error and did not run the test with my first trimester NT data. I received a call saying my results were positive for DS. I was somewhat hesitant, but completed the screen at 21 weeks 0 days. A few days later they contacted me and said I could do the sequential part 2 (quad screening). They initially recommended no follow-up and said it’s likely a normal variant. But they noted that risk was altered to 1 in 1700. I was assured this was a VERY soft marker and was not a concerning finding. Results were reassuring, with risk of Down’s syndrome estimated at 1 in 3400.Īll was well until the anatomy ultrasound at 20 weeks, when they detected an echogenic intracardiac focus (EIF). We opted for NT ultrasound and sequential part 1. My OB discouraged NIPT because of the loss (and increased risk for a false positive). I was initially pregnant with twins, but experienced vanishing twin somewhere between 7-9 weeks.
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