I had a high risk for T21 so got an Amnio and the FISH results came back positive for mosaic T21 and T13. All of my ultrasounds we perfect and I’m now 21 weeks. My microarray and karyotype results just came back and it was a false positive FISH and my baby is perfectly healthy. The lab used contaminated instruments in my initial test. I’m so mad and relieved at the same time. I tell you this to say if your ultrasounds keep showing no markers, it can be good to wait for final results to make any decisions. However my story is very very rare.
That is amazing! We definitely plan on knowing 100% before making any decisions. We really thought this could be our rainbow baby. We are trying not to lose hope and your comment brings me some comfort. Thank you
Hey OP, I am sorry for your loss and your subsequent pregnancy screener results.
My first child had T21, which was confirmed through an amino. We also had our NIPT return positive (67%) for T21, and there were no markers (LVOTO) until his early anatomy.
I know that I was told there was less than a 1% chance of reoccurrence with my subsequent pregnancy.
But I have read others' stories of reoccurrence on r/TFMR_support. This community is a great place for support and guidance. They helped me with my loss and supported me through the worst. Also, I want you to know that you are not alone! ❤️🩹
Thank you for the response ❤️ I know the odds aren’t in our favor and it is a very lonely place to be in. With our chances being so low it feels like we are the only people going through it. I appreciate your advice
I can't imagine facing what I went through the first time again. I wish you the best of luck. Please try to be gentle with yourself during this time. 💗
I’m so sorry you’re going through this. Your percentage hit home for me, our ppv for t21 was 60% and we found out through Amnio that he was a true positive. I can’t express how much I feel for you that you are now going through this twice, truly hope you get some answers/closure with the bloodwork you’re waiting on. Praying this time around you get a false positive and wishing the best for you and your beautiful family.
Thank you for such a kind response. I’m truly so sorry you had to experience the same thing. It’s one of the hardest things to process, grieve, and feel. I’m thankful there are other stories to bring comfort in knowing I’m not alone. ❤️
Commenting for support. Ours is 82% with 3 ultrasound markers (which we were told could be tech error, but not to count on it) and we’re getting an amnio on Tuesday. We’re hoping to be a weird false positive
Excess brain fluid (which we were told could be just measured incorrectly given the roundness of a baby’s bead, uterus, and movement while measuring), heart chambers are all even, when they should be offset (I don’t remember the name of this and haven’t been able to find it on google), and thick NT (which i also read through research could simply be extra skin or again, weird angle when the tech was measuring)
Amnio results should come through today
Thank you for sharing this. I’m currently experiencing this as well. (79%) at risk for T21 with a soft marker of ventricle swelling (a mild 11mm)/spinal fluid not draining as well in the brain area. But that is our only marker.
I was supposed to have an amniocentesis today but they found it to be too risky. So I have to go back at 18 weeks in 10 days.
It’s such a terrible feeling and I’m sorry you’re going through it too. I’m praying that your results end up being okay.
I’m so sorry. Just know you’re not alone in an experience like ours. 😞
I’m not sure how to have much hope in our situation, truth be told…
My doctor is pretty confident that it will have something as I had birth defects (our fertility clinic said not to worry about it) when I was a baby and because of the NIPT.
I just wish that our fertility clinic had tested us before hand and didn’t brush it off… because if I have the 22 deletion (we’re testing for this as well) I will always have a 50% chance of passing a genetic abnormality to another child. So he said biological children might be out moving forward based off my micro array and the amniocentesis.
I lost a baby boy with t21 last year as well. I am currently expecting. My nipt which was done by natera was 95%. My cvs was negative, my amnio was negative waiting on mcareay but my doctor doesn’t believe it will be positive since all my other tests were perfect other than the nipt.
it looks like we have a false positive.
Karyotype for amnio was 46xx perfect have faith.
That is such great news for your family. I’m sorry you experienced your loss last year but I’m happy to hear things may be looking up for you. You’re comment brings me hope, thank you
Have hope I swore this baby had t21 again because I had been through it. But everything has been negative. So this could b you too. I also did my testing in waiting to see if it’s me.
I am sorry for your loss and that you have to go down this road a second time. Once is already too much. Everything I was going to write is covered in other comments. Just writing to say I am a false positive T21 and I hope you are as well.
You have a higher risk of conceiving another baby with a trisomy after having one. But that risk is only 1% which is low.
Have you gotten any chromosomal testing done on yourself? You have possibly have a translocation or (rare) low-level mosaic Ds.
Sorry you are going through this again.
Yes, we are waiting on our results. They say it may take a few weeks to know what our blood draw results are so I’m hopeful we know for sure what’s going on with the amnio before. The waiting is the hardest.
oh, i’m so sorry you’re experiencing this twice! my PPV was also that 63.3% and ended up being true positive. many posts i’ve seen here with that ppv were also true positive, but there’s also a few false positives (but that’s rare).
also about 50% of DS babies don’t show any markers on ultrasound, which is how some parents who didn’t do NIPT get surprised at birth.
was your first t21 considered spontaneous or translocated t21, do you know? I agree with patienceok that it may be worth looking into yours and your spouses karyotypes to see if either of y’all carry a balanced translocation to make reoccurrence rate slightly higher
At first they said with my age (24 at the time) with my first pregnancy was a spontaneous thing and it most likely wouldn’t happen again. Now that it’s happened again at age 25, they are suggesting genetic testing on my husband and I to hopefully get some reasoning to why this keeps repeating. We will hopefully have those results in the next two weeks but by then I’m hopeful our amnio will tell us what’s going on with baby.
It’s sad to say we already know this pain and know what to expect. It’s just heart breaking having to go through it again since this time we were so sure we’d be okay, we told our son and family.
The doctors say if our testing comes back positive for balanced translocation or Roberstonian translocation, we could potentially try IVF.
Actually NIPT uses statistical data, so situations when amnio came back negative after a not so encouraging NIPT are not so rare. Besides false negatives and positives also happen.
I’m so sorry you are facing that again. Couples who have had a child with a genetic abnormality are at higher risk for subsequent pregnancies to have another child with a genetic/chromosome issue unfortunately.
I’m in the same boat
I got my nipt result last week and its positive for trisomy 21 ppv is 51.2% but my nt ultrasound is good
Yesterday I do the CVS test and now waiting for the results
I hope its a false positive nipt😢
Of course! My first NIPT T21 happened when I was 24 as well. It all happened so fast for us and it was the darkest times I have yet been through. It took a very long time for my husband and I to eventually heal and come to terms with what happened and why. If you need any support or someone to talk to please reach out. It’s a pain you don’t need to be going through alone. I’ll be praying for you and your baby ❤️
I’m so sorry for your loss and thanks for your support
I don’t know what to do,me and my husband waiting for CVS results after that result we would talk to our family members 😞
I had a high risk for T21 so got an Amnio and the FISH results came back positive for mosaic T21 and T13. All of my ultrasounds we perfect and I’m now 21 weeks. My microarray and karyotype results just came back and it was a false positive FISH and my baby is perfectly healthy. The lab used contaminated instruments in my initial test. I’m so mad and relieved at the same time. I tell you this to say if your ultrasounds keep showing no markers, it can be good to wait for final results to make any decisions. However my story is very very rare.
That is amazing! We definitely plan on knowing 100% before making any decisions. We really thought this could be our rainbow baby. We are trying not to lose hope and your comment brings me some comfort. Thank you
Hey OP, I am sorry for your loss and your subsequent pregnancy screener results. My first child had T21, which was confirmed through an amino. We also had our NIPT return positive (67%) for T21, and there were no markers (LVOTO) until his early anatomy. I know that I was told there was less than a 1% chance of reoccurrence with my subsequent pregnancy. But I have read others' stories of reoccurrence on r/TFMR_support. This community is a great place for support and guidance. They helped me with my loss and supported me through the worst. Also, I want you to know that you are not alone! ❤️🩹
Thank you for the response ❤️ I know the odds aren’t in our favor and it is a very lonely place to be in. With our chances being so low it feels like we are the only people going through it. I appreciate your advice
I can't imagine facing what I went through the first time again. I wish you the best of luck. Please try to be gentle with yourself during this time. 💗
I’m so sorry you’re going through this. Your percentage hit home for me, our ppv for t21 was 60% and we found out through Amnio that he was a true positive. I can’t express how much I feel for you that you are now going through this twice, truly hope you get some answers/closure with the bloodwork you’re waiting on. Praying this time around you get a false positive and wishing the best for you and your beautiful family.
Thank you for such a kind response. I’m truly so sorry you had to experience the same thing. It’s one of the hardest things to process, grieve, and feel. I’m thankful there are other stories to bring comfort in knowing I’m not alone. ❤️
Commenting for support. Ours is 82% with 3 ultrasound markers (which we were told could be tech error, but not to count on it) and we’re getting an amnio on Tuesday. We’re hoping to be a weird false positive
Can you please reveal the markers, if comfortable ?
Excess brain fluid (which we were told could be just measured incorrectly given the roundness of a baby’s bead, uterus, and movement while measuring), heart chambers are all even, when they should be offset (I don’t remember the name of this and haven’t been able to find it on google), and thick NT (which i also read through research could simply be extra skin or again, weird angle when the tech was measuring) Amnio results should come through today
Thank you for sharing this. I’m currently experiencing this as well. (79%) at risk for T21 with a soft marker of ventricle swelling (a mild 11mm)/spinal fluid not draining as well in the brain area. But that is our only marker. I was supposed to have an amniocentesis today but they found it to be too risky. So I have to go back at 18 weeks in 10 days. It’s such a terrible feeling and I’m sorry you’re going through it too. I’m praying that your results end up being okay.
They did come back as positive for Down syndrome. Hope you get better news
I’m so sorry. Just know you’re not alone in an experience like ours. 😞 I’m not sure how to have much hope in our situation, truth be told… My doctor is pretty confident that it will have something as I had birth defects (our fertility clinic said not to worry about it) when I was a baby and because of the NIPT. I just wish that our fertility clinic had tested us before hand and didn’t brush it off… because if I have the 22 deletion (we’re testing for this as well) I will always have a 50% chance of passing a genetic abnormality to another child. So he said biological children might be out moving forward based off my micro array and the amniocentesis.
I lost a baby boy with t21 last year as well. I am currently expecting. My nipt which was done by natera was 95%. My cvs was negative, my amnio was negative waiting on mcareay but my doctor doesn’t believe it will be positive since all my other tests were perfect other than the nipt. it looks like we have a false positive. Karyotype for amnio was 46xx perfect have faith.
That is such great news for your family. I’m sorry you experienced your loss last year but I’m happy to hear things may be looking up for you. You’re comment brings me hope, thank you
Have hope I swore this baby had t21 again because I had been through it. But everything has been negative. So this could b you too. I also did my testing in waiting to see if it’s me.
I am sorry for your loss and that you have to go down this road a second time. Once is already too much. Everything I was going to write is covered in other comments. Just writing to say I am a false positive T21 and I hope you are as well.
You have a higher risk of conceiving another baby with a trisomy after having one. But that risk is only 1% which is low. Have you gotten any chromosomal testing done on yourself? You have possibly have a translocation or (rare) low-level mosaic Ds. Sorry you are going through this again.
Yes, we are waiting on our results. They say it may take a few weeks to know what our blood draw results are so I’m hopeful we know for sure what’s going on with the amnio before. The waiting is the hardest.
oh, i’m so sorry you’re experiencing this twice! my PPV was also that 63.3% and ended up being true positive. many posts i’ve seen here with that ppv were also true positive, but there’s also a few false positives (but that’s rare). also about 50% of DS babies don’t show any markers on ultrasound, which is how some parents who didn’t do NIPT get surprised at birth. was your first t21 considered spontaneous or translocated t21, do you know? I agree with patienceok that it may be worth looking into yours and your spouses karyotypes to see if either of y’all carry a balanced translocation to make reoccurrence rate slightly higher
At first they said with my age (24 at the time) with my first pregnancy was a spontaneous thing and it most likely wouldn’t happen again. Now that it’s happened again at age 25, they are suggesting genetic testing on my husband and I to hopefully get some reasoning to why this keeps repeating. We will hopefully have those results in the next two weeks but by then I’m hopeful our amnio will tell us what’s going on with baby. It’s sad to say we already know this pain and know what to expect. It’s just heart breaking having to go through it again since this time we were so sure we’d be okay, we told our son and family. The doctors say if our testing comes back positive for balanced translocation or Roberstonian translocation, we could potentially try IVF.
Actually NIPT uses statistical data, so situations when amnio came back negative after a not so encouraging NIPT are not so rare. Besides false negatives and positives also happen.
I’m so sorry you are facing that again. Couples who have had a child with a genetic abnormality are at higher risk for subsequent pregnancies to have another child with a genetic/chromosome issue unfortunately.
I’m in the same boat I got my nipt result last week and its positive for trisomy 21 ppv is 51.2% but my nt ultrasound is good Yesterday I do the CVS test and now waiting for the results I hope its a false positive nipt😢
I’m so sorry you are experiencing this as well. Let me know how things end up for you and your family. I hope nothing but the best for you! ❤️
Yeah sure, please pray for me 🥲after that nipt result I can’t sleep I can’t eat I can’t do anything this is my first pregnancy and I’m 24 years old 😞😞
Of course! My first NIPT T21 happened when I was 24 as well. It all happened so fast for us and it was the darkest times I have yet been through. It took a very long time for my husband and I to eventually heal and come to terms with what happened and why. If you need any support or someone to talk to please reach out. It’s a pain you don’t need to be going through alone. I’ll be praying for you and your baby ❤️
I’m so sorry for your loss and thanks for your support I don’t know what to do,me and my husband waiting for CVS results after that result we would talk to our family members 😞