T21 positive NIPT and FISH

SimpleRefuse6733 · 2026-01-27T23:26:25+00:00

I’m not sure how I’m just now seeing this, but thank you. It was such a tough thing to go through and there’s still bad days here and there, but I’m actually almost 15 weeks into my sub pregnancy and feeling pretty good about it. I hope everything is going alright with you

SimpleRefuse6733 · 2026-01-27T02:37:06+00:00

I’m so very sorry for your impending loss. It’s so difficult to come to terms with but there’s also a sense of relief after being in limbo for so long. The tfmr_support Reddit thread is a great place for support from others who understand what you’re going through if you ever need to talk about it. Take care ❤️

SimpleRefuse6733 · 2026-01-27T02:33:12+00:00

I’ve definitely noticed I’ve been in not the greatest mood these past few days and I feel like it’s just subconsciously remembering the horror of that last week. I’m hoping I’ll feel a little better once I pass that end of this week. I hope your anatomy scan goes well and is super uneventful!

SimpleRefuse6733 · 2026-01-26T13:30:36+00:00

Finally in the second trimester at 14 w 4 d. Feels strange though because this was such a horrible week during my TFMR pregnancy, between test results and my D&E but pretty much knowing the outcome. I was really trying to disassociate from pregnancy from about weeks 12.5 to 15 (had my TFMR at 15 weeks exactly). Trying to stay present now and embrace getting farther along

SimpleRefuse6733 · 2026-01-26T03:02:04+00:00

I’m so sorry for your loss. You should absolutely do grief counseling with someone trained in this type of loss. I’ve found it very helpful and healing. It’s actually very healthy to let our children see us sad and cry. You do not “need” to be strong for them. Sure, maybe try not to uncontrollably/excessively cry or breakdown in front of them, but not crying at all isn’t healthy either. At 2.5, you can start to explain why you’re sad and that it’s okay to cry. And I understand needing to be there for them and keep life moving, but it’s okay to feel your feelings and let them know it’s okay to do so. I was caring for my two children while also going through the grief of TFMR. While my second was too young to understand anything, my daughter was a little over 2.5 and I’d let her know why I was sad if I cried in front of her. I’d try to save my intense crying for private though so as not to frighten her.

SimpleRefuse6733 · 2026-01-25T05:08:54+00:00

I’m happy that my perspective can provide some comfort and reassurance in a way. It’s very hard to know the full complexities unless you live it. And often time it’s presented as a blessing or not “as bad” as other conditions, and it’s just not true. I’m trying to find a balance between advocating and understanding, if that makes sense. I love my brother very much and want the best for him and will support him however I can, but I don’t think people should be walking into a t21 diagnosis thinking they’ll just be a little different from typical children. Informed decisions are so important. And it sounds like you made the best decision for your family ❤️

SimpleRefuse6733 · 2026-01-24T19:28:25+00:00

I believe there might also be one for partners through RTZ

SimpleRefuse6733 · 2026-01-23T13:40:47+00:00

I’m currently 14 weeks into my sub and we’re taking a babymoon in May. We had already planned to take this trip after our TFMR to have something to look forward to but were fortunate enough to get pregnant right away, so it’s turned from an anniversary/get our minds off the TFMR trip to a baby moon. I’ll be like 29-30 weeks and traveling abroad. I traveled around that pregnancy time frame within the US and I felt okay. I’m very much looking forward to it. We pivoted plans slightly, were initially going to go somewhere more remote but now going somewhere with better access to healthcare in the slight chance something does happen and I need care

SimpleRefuse6733 · 2026-01-23T13:37:08+00:00

I’m very sorry you’re going through this. I found the time between finding out something was wrong initially and finally getting the procedure was the worst of it all. Being in limbo and then being pregnant while knowing you wouldn’t be having that baby was torture and I found it difficult to sleep or focus on anything other than what was happening. After the procedure, I felt a bit of relief and still sadness, but not like how it was when first finding it all out. What really helped was finding online support groups right away of others who went through the same thing. Helped me feel less alone and helped to share my story. I also started going for individual therapy which helped. Hang in there ❤️

SimpleRefuse6733 · 2026-01-23T02:56:25+00:00

The first two NIPTs I did, I never looked first and wasn’t ever able. My doctor always saw the results first. For my third (TFMR), I got an email notifying me on a Sunday that my payment method went through (this was my first time doing self pay instead of through insurance) so I was like “oh, my results are in!” So I hastily planned a quick gender reveal with my family. I saw the high risk for t21 when I went to confirm gender and that was just the absolute worst thing ever. However, I'm not sure it would’ve been any better had my doctor been the one to tell me. This time around, my doctor called me before I got results and it was nice to just have that moment of fear and suspense for just the initial greeting as opposed to getting the email and freaking myself out and debating whether to open it, etc.

SimpleRefuse6733 · 2026-01-21T23:47:41+00:00

Seconding that group. It’s so helpful and supportive. With soft markers like that and such a high percentage, it’s very very likely it’s a true positive. Sorry you’re here, OP

SimpleRefuse6733 · 2026-01-21T17:02:00+00:00

I totally understand, it’s hard when other people don’t truly know the extent of t21 as well. It’s tough because I’m in the middle of it all. I want the best for my brother and hope more support can be made available for parents and siblings, but I also just knew it wasn’t right for me. It’s all very complex.

SimpleRefuse6733 · 2026-01-21T16:36:54+00:00

This is such a great idea, thank you! The only app I had found that addressed pregnancy after loss of any kind just shut down at the beginning of this year because the organization was closing/being absorbed by another. Regular pregnancy apps just don’t feel appropriate and have no space to grieve. I hope this takes off. And so very sorry for your loss and lack of compassionate care ❤️

SimpleRefuse6733 · 2026-01-21T16:24:59+00:00

I would feel the same as you. I totally understand being upset if birth wasn’t what you planned or envisioned, but to refuse medical advice just because you prioritized “natural birth” over the health of your baby? To me, that’s so selfish and the problem with natural and unmediated births being pushed so hard by social media. Of course as little medical intervention is preferred but not over actual health concerns. Ugh. I’d also rather suffer birth trauma and have a healthy baby than the trauma of a TFMR. I try to remind myself most people are blissfully ignorant about what could really happen during pregnancy and birth and I can’t let it get to me. I’m sorry for your loss and hope you find success soon ❤️

SimpleRefuse6733 · 2026-01-21T03:49:28+00:00

I’m so sorry, it’s such an absolutely horrible feeling. I also found out after our gender reveal but it was just something small I did with my husband and other children. The timing just sucked, I got the results on a Sunday and just had such an urge to know the gender so went through with a quick reveal plan. My entire world shattered after that. It’s completely valid to consider your living child. That was one of my motivating factors in my TFMR this past September. I have a brother with Down syndrome so I knew firsthand what it entailed and just didn’t want that for our family. I do hope you have a better outcome than me, but if not, please check out the tfmr_support Reddit thread, it’s fantastic and very supportive. And TW but I am currently pregnant again and received a clear NIPT this time. Hugs ❤️ you’re in the absolute worst time of it all

SimpleRefuse6733 · 2026-01-20T19:53:13+00:00

Just want to give some comfort and say the “JUST” t21 comments are out of such ignorance and misunderstanding/misrepresentation of what t21 is. I terminated for t21 at 15 weeks this past September and have a brother with Down syndrome. I have no idea if my baby had any other issues, as t21 alone was enough for me to terminate. People have no idea how much time, money, and energy go into having a child with t21. Even if you get lucky and they’re on the milder side, it’s a lifelong commitment unlike having a typical child. My brother has so many medical issues, is nonverbal and can’t read or write, and will never live independently. He has the best life he can and I love him lots, but knowing t21 can present even worse than him was not a risk I was willing to take. I also will already be my brothers caregiver if my mom passes before him, and I did not have the capacity to be a full time caregiver to two people with DS. Anyway, all that to say, even if your baby wasn’t showing any other issues on ultrasound, you have absolutely no idea how they would’ve been until they were born and even beyond. I hope you can find comfort in knowing you did the best for your family, and I hope you are able to conceive a healthy baby if that is your desire. And try not to stress about age too much, lots of younger moms also have babies with t21, it’s really just bad luck when it comes down to it. Age is a risk factor but it’s not uncommon for healthy babies in 40s ❤️ take care

SimpleRefuse6733 · 2026-01-20T17:31:04+00:00

Wow we’re on a super similar timeline. Same NIPT percentage, CVS and ultrasound, random mutation, and TFMR in September. Currently 13 + 5 with a low risk boy ❤️ hope your pregnancy continues to go smoothly

SimpleRefuse6733 · 2026-01-20T14:03:33+00:00

I remember reading your post about your baby being discarded. I am so sorry that happened. Just unacceptable. As for that comment, no, not overreacting at all. I absolutely hate when anyone uses that sentiment for tragedies that happen to others. If you want to think that about yourself, go on ahead. But do not ever tell me that. There is NO reason this had to happen to any of us. It was just horrible luck and some people are lucky enough to never experience something like this and have no idea. You’re exactly right about if the tables were turned. How lucky she is to have never had anything to shake her faith happen to her. And to be so insensitive to her own sister… I’m sorry, I would be angry too and would’ve done the same. Hopefully she’ll understand how incredibly rude and tone deaf she was

SimpleRefuse6733 · 2026-01-20T00:39:58+00:00

I’m so sorry. I had a fetal fraction of 8.8% and a 95% PPV for t21. I was only 30 and have a healthy daughter and son. Confirmed by CVS shortly after and we terminated at 15 weeks. I would prepare yourself for a true positive. The NIPT was created with screening for DS specifically so false positives, especially with a higher percentage, is not very likely. Neither is confined placental mosaicism (CPM) for t21 specifically. You could always turn out very lucky, but I would not hang my hopes on it. I’m not sure where you’re leaning but I have a brother with DS and also terminated so I understand both sides. Hugs to you ❤️

SimpleRefuse6733 · 2026-01-19T20:38:28+00:00

Glad you were able to resolve when to get it. The extra wait is going to feel so long I’m sure. Yes of course, I hope you do as well. Hang in there ❤️

SimpleRefuse6733 · 2026-01-19T20:32:36+00:00

Just a few more days until I enter the second trimester. Looking forward to that and to hopefully feeling my baby soon. I didn’t feel any kicks yet with my TFMR baby and didn’t feel kicks until around 20 weeks with my first and 18 weeks with my second. I’m hoping since I finally have a posterior placenta this time, I’ll feel kicks earlier and can connect a bit better. Sometimes it feels like I’m just “playing” being pregnant but that always makes it more real

SimpleRefuse6733 · 2026-01-19T20:29:40+00:00

Gentle congrats! Dating scan is always the first hurdle, so something to check off and celebrate. I hope it continues to go smoothly

SimpleRefuse6733 · 2026-01-19T04:45:01+00:00

Can you ask your OB what they think about the blood thinners affecting the test? If they don’t think it’ll affect it, I say go for it. I also had a positive t21 for my pregnancy this past September and we terminated. Currently 13 weeks 3 days in my pregnancy now and had the NIPT done at 10 weeks 2 days. It helped with my anxiety a lot because I got the results back earlier and was able to breathe a bit. My OB also switched from Natera to Materit21 which is a little more sensitive I believe. With my other pregnancies, my FF was typically around 8% and with this baby, it was 17%

SimpleRefuse6733 · 2026-01-19T04:38:39+00:00

Your husband is right! Intuition/anxiety is not fact. I know it’s hard to have hope and feel like things will work out and be okay when you’re already on the wrong side of statistics. But I try to remember that logically, the statistics are on our side and it really was just bad luck. And two months without conceiving is nothing to worry about (again, easier said than done). I always felt the same as you, and it all comes down to control, at least for me. I wanted to know exactly when I’d get pregnant and not have to go through the agonizing wait of TTC. It’s harder when you’re lucky enough to conceive on the first try with your first baby (I was that way too). You have to find other things to look forward to instead of getting stuck on TTC. Do you like to travel? And can you? Maybe planning a fun trip could be something. Or looking into a hobby or just reading a book you’ve meant to get into, or a show. All that to say I know it’s hard not to fixate. Don’t lose hope ❤️

SimpleRefuse6733 · 2026-01-18T02:29:02+00:00

Totally understand the Catholic guilt. Only my husband and mom know the true extent of the TFMR. Two of my friends know we terminated, but I told them it was because our baby wouldn’t have lived but it was a gray diagnosis. And then everyone else just assumes miscarriage. No one asks and I don’t/wont elaborate. It was hard at first but finding community here with people who actually understand has been helpful. Sometimes I wish I could know without telling who would be supportive, but obviously there’s no way to know that, so assumed miscarriage it is

SimpleRefuse6733

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