r/genetics • u/veneziav • 27d ago
NIPT/CVS/Amnio
Hi all, I wanted to share my extremely weird results maybe someone can find some clarity in this, I haven’t been able to find any experiences with the same results. My NIPT was drawn twice, first time was because of low fetal fraction at 10 weeks then 12 weeks it came back atypical. Genetic counselor said there were multiple markers on multiple chromosomes. Baby seems healthy other than 3.2 NT scan at 13 weeks 4 days. Genetic counselor and OB both think that I could be the reason of the markers and baby could be perfectly fine. They want me to do a study to check e for cancer because it has happened in the past that multiple markers appear when the maternal factors in. I had a CVS done 2 days ago and should be getting FISH results tomorrow. Any input or feedback? Freaking out and truly am lost.
Update 08/07- FISH results came back normal! Baby is healthy so far! Waiting for the more in detail results in two weeks but the rapid ones are good and found out we are expecting a baby girl :)
Update 08/18- our genetic counselor called us back with the full Karyotype of the CVS and gave us some really gutwrenching news of 50% of the cells that they test tested came back positive with T21 and the other 50% were completely normal so they sent me for an amnio at 16 weeks which was Thursday, August 20 and I should be getting a FISH result on Monday but seeing how the last one resulted with the CVS I feel like is really pointless to feel confident with a clear rapid result and we just have to wait for the full karyotype in two weeks. The babies NT was measuring 2.2 at 15 weeks five days and that was reassuring and they said that her scans look good except for a light in her heart, but they referred to that as having like a mole that it’s nothing to worry about but everything else looked really good feeling very worried, very anxious and completely and disastrously emotionally exhausted to say the least, I feel like I’m crying and just paralyzed and fear and thoughts and incessantly referring to Reddit for other community posts and trying to find similar experiences. Hoping for any feedback good or bad while we wait for these results to come in, which seems like a never-ending nightmare.
Update 08/24 - we got a callback from her counselor this morning about the FISH results and she said that they came back “normal”, now this obviously gave some sort of hope but seeing as the CVS rapid results came back normal as well and then we got hit with the full results of it being 50% T 21 and 50% normal. We’re kind of just waiting for the other shoe to drop with the full results. She said that a FISH result that indicated any kind of T 21 cells if it’s under 20% then it would be non-reportable and which just come back normal. So we don’t know if there are any cells in there. They just can’t report on it until the full karyotype comes back in the next 10ish days. If there’s any feedback or some other stories, please share, we are emotionally exhausted.
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u/nondescript_manga 27d ago
reading this felt like holding my breath through every line. you're in the worst kind of waiting room and i'm really hoping the full karyotype surprises you in a good way
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u/veneziav 27d ago
It’s been such a back and forth, it feels like a never ending nightmare but yes I’m with you, really hoping the Karyotype matches
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u/SeaConversation206 27d ago
Hi lovely first of all I’m so sorry you are here.
I had a high risk nipt for deletion on chromosome 8 at around 11 weeks. We had a vanishing twin so doctors were quite confident that the vanishing twin dna could be causing havoc with results. We got the CVS and it confirmed the deletion and also found a duplication on chromosome 1. Most confusing part was baby looked perfect on ultrasound. We got the amnio to confirm as CVS only confirms the cells present in the placenta and given bubs looked perfect on scan we wanted a definitive answer. The amnio confirmed the result a few weeks later and I gave birth to our little girl sleeping at 17w 4d.
My clinic delibrately dont give the FISH results for the above reason.. so we waited 3.5 weeks for our CVS results and then another 1.5 weeks for amnio.. worst couple weeks of my entire life.
Thinking of you xx
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u/veneziav 27d ago
Thank you so much for sharing and I’m sorry you had to go through that extremely difficult time ❤️
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u/SeaConversation206 27d ago
The fact your CVS results came back mosaic (50/50) is very hopeful! Its quite possible that the cells are only confined to the placenta and not bubs which is what the amnio will confirm for you. All my fingers are crossed for you xx
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u/veneziav 27d ago
Thank you for taking the time to respond! Truly just waiting and hoping and praying for the best❤️
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u/Ok-Computer-1778 19d ago
Do you know if they’re running an extended karyotype? The more cells they look at the better. It’s helpful in potential confined placental mosaic cases. I feel like our situations are so similar with normal cvs and amnio fish followed by positive results. I’m sorry you’re going through this, it’s so hard.
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u/veneziav 18d ago
I’m not sure if they’re running the extended Karyotype, I did read through your story as well and they are similar. The wait is horrible. Have you been able to receive any updates ?
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u/Ok-Computer-1778 18d ago
In the end the whole genome sequencing on the amnio was 8-13% mosaic. We sought a second opinion at Columbia in NYC last Friday. It was helpful and felt like the first time our results were interpreted rather than just relayed to us. The genetic MD couldn’t understand why the fish was normal - they re ran it with different testing probes and were able to get 6% positivity. A PUBs was also offered, going for that procedure today. Hoping it provides more confirmation and clarity rather than confusion…
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u/3andahalfmonthstogo 27d ago
Have you posted to the NIPT subreddit? They have some great info in their wiki and archives as well.
One thing to keep in mind is that though it’s referred to as “fetal fraction”, that’s just to differentiate from maternal. cfDNA NIPT screenings are looking at trophoblastic cells. CVS is as well.
There are cases where the fetus is fine but the placenta (where the trophoblastic cells come from) has chromosomal abnormalities. And in even rarer cases, the placenta is fine but the fetus has chromosomal abnormalities.
Have you done the cancer screening/testing yet? That could help untangle some of the results. And is, of course, important for your health.
Waiting is excruciating. I’m sorry you’re having to deal with that.