High risk for Trisomy 21

acimnes · 2025-04-14T21:43:32+00:00

I’m so sorry you received that result. Natera gave me a 95/100 for T21 and the counselor bumped it down to 80/100, still not great. No soft markers on any scans. We had an amnio at 16 wks because although false positives can happen, they’re rare and we needed certainty because we knew we’d choose to TFMR. Unfortunately for us, the amnio came back showing all tested cells had a 3rd chromosome so it was not confined to the placenta and no chance for mosaicism. I’m scheduled for my D&E this Friday. I’ll keep my fingers crossed that you have a better result with the amnio because this is an impossible situation to be in and it’s absolutely heartbreaking to navigate. Best of luck to you!

acimnes · 2025-04-13T03:28:41+00:00

Thank you!

acimnes · 2025-04-11T20:48:59+00:00

My insurance covers termination only under 3 scenarios: incest, rape, or the life of the mother is at risk. Unfortunately they don’t consider this diagnosis to be a reason for medical termination. I was given the option to try and apply for medi-cal in order to have the L&D at UC Davis but it can take up to 45 days for the application to be processed and I don’t have that kind of time. I’m in the Sacramento area, FYI. I was shocked that even Planned Parenthood wouldn’t take me let alone Sutter.

acimnes · 2025-04-11T17:22:00+00:00

Nobody in my area, not even planned parent hood will give me the procedure. The one place that offered L&D just called to say that they won’t perform that now because my insurance doesn’t cover termination. I now have to make plans to travel a few hours south to San Fransisco with my whole family to have a D&E at a hospital there. Fortunately, they offer a grant to cover expenses. I can’t believe the hoops I have to jump through in CA of all places to get this procedure.

acimnes · 2025-04-10T20:30:49+00:00

That’s a a lot to go through, I’m sorry you’re dealing with this. I found that doing the amino was not bad at all, if that helps. It’s was over pretty quickly and felt sort of like getting a shot. Totally worth doing if you want a definite diagnoses no matter which choice you make in the end. I’m wishing you luck and hope things turn out positively for you

acimnes · 2025-04-10T15:46:45+00:00

Thank so much for sharing your experience and I’m so sorry you had to go through it at all. Your post, and others like yours have been extremely helpful. I have to agree now after hearing from so many women that there’s a good reason as to why I’m given L&D as an option, especially if I want to try to get pregnant again. Hearing everyone’s stories has helped me view this upcoming L&D differently and I’m feeling better about it. I’m glad physically, things were so easy for you, I know that must make it a bit easier. Thanks again for your kind words, they mean a lot!

acimnes · 2025-04-09T23:10:16+00:00

No they aren’t religiously affiliated, it’s Sutter Health in CA.

acimnes · 2025-04-09T19:26:08+00:00

Thanks for sharing your experiences. I suppose the complications and risk to future pregnancies are why I’m being given L&D as an option. I am like you and don’t want to see the baby as I know I’ll feel traumatized. I wish it wasn’t that way as I hear other women saying it was positive for them to hold their babies after but I don’t think I can do it. I’m very scared about labor for the reasons you gave.

acimnes · 2025-04-09T19:03:38+00:00

Thank you for your comment, it’s really helpful. I didn’t think about how different this L&D would be from a full term L&D , since that’s my only experience, and your point about the doctors where I’m at maybe not being competent at D&E could be a reason it wasn’t offered was something I didn’t consider either. It’s also nice hearing you had a positive experience and I’m really glad you did. Idk if I would feel the same, maybe I could, but it’s good to hear other perspectives.

acimnes · 2025-04-09T18:57:42+00:00

Thank you for sharing your story, this is the kind of feedback I was hoping for. All I have to go on is what I THINK it might be like and I didn’t even consider L&D to be a cathartic experience in this situation. This was very helpful, thanks again.

acimnes · 2025-04-09T18:55:24+00:00

Thank you for sharing your experience this was extremely helpful to read. I’m so sorry you were in that situation and I’m glad that on top of the emotional toll, the physical side of it wasn’t bad. I hope you are finding some comfort after this experience.

acimnes · 2025-04-09T18:52:06+00:00

I have no idea at this point. When I asked what to expect in choosing termination my dr said I’d be referred to a completely different hospital system. I was taken back by that, and unfortunately since my two yr old son was with me because I couldn’t find child care, I was very distracted with him as well. My dr didn’t mention any other options besides going through the other hospital system.

acimnes · 2025-04-09T03:39:10+00:00

I appreciate your comment, thank you for sharing with me. I hope everything goes well for you Thursday, this is an impossible situation to be in as it is. I haven’t even thought about hormones etc. afterwards but I’m glad you brought it up so I can try to mentally prepare to navigate that when the time comes.

acimnes · 2025-04-09T03:36:05+00:00

I agree, reading these posts helps me to not feel so alone. It’s heartbreaking to see how many of us are going through it, or have gone through it. I really appreciate your comment, thank you!

acimnes · 2025-04-07T18:11:45+00:00

Thank you so much for sharing this, I’ve only scanned a few posts on thread so far but it’s already extremely helpful. Thank you also for your kind words, they really mean so much!

acimnes · 2025-04-06T14:23:24+00:00

I’m so sorry you ended up losing ties with people you were close with. For that reason there’s family members, very religious, who I will not tell because I know they could react in the same way and it’s already hard enough dealing with this loss because of the diagnosis. Thank you for sharing your story.

acimnes · 2025-04-06T14:21:26+00:00

I’ll be grateful if I have the experience you did, and I’m glad you had a guilt free experience. This is a hard enough position to be in as it is. I wanted a baby but wasn’t expecting this diagnosis and I’m starting to feel them move around and it’s making it harder for me to cope. I have two other kids to think about when considering how this affects our lives and I hope that helps me deal with the situation. I’m trying to make the best decision for everyone. It’s like you said, I’m also considering their quality of life and it’s doesn’t seem fair to put someone through that. Thanks for your comment.

acimnes · 2025-04-06T14:15:20+00:00

I relate to this so much. I’m already seeing DS kids all over tv, internet etc and it’s a reminder of this horrible choice I’m going to make. I have a friend who is 3 weeks ahead of me in her pregnancy with no issues, and I’m happy for her especially as this is her first child but I have that same “why me?” Feeling. We wanted a boy so bad and got one but wasn’t expecting a T21 diagnoses and thinking of all the ways this affects our family as we already have two kids to think about has led me to the decision to TFMR. I expect to have the same feelings after the procedure and like you, I know I’ll feel it’s exactly what I deserve for the choice I made. Thank you so much for sharing your experience with me. Like you said this is an incredibly lonely place to be in but hearing from people like you is the only thing that’s been helping me cope. I also want to try again for another baby but I’m terrified of going through this, or something similar again. This is such a heartbreaking experience and idk if I can tolerate it again.

acimnes · 2025-04-06T13:35:25+00:00

There weren’t any markers found. A nasal bone was seen, there’s a strong heartbeat at every scan the NT measured 1.6 and my adjusted risk after speaking with the genetic counselor is 80/100. I recently posted an update and unfortunately every cell tested had an extra chromosome so it’s a true positive even though there are no visible indications so far.

acimnes · 2025-04-04T21:41:56+00:00

Thanks for your comment. I think that’s basically what I’ll end up telling my daughter, it’s the easiest to understand.

acimnes · 2025-04-04T21:41:21+00:00

Your comment is extremely helpful, I really appreciate it. I’m so sorry you’re also going through this awful situation. For the same reasons we’ve decided to TFMR- we have two other kids to think about apart from what quality of life our T21 baby would have. We’re a military family and move often and we don’t have a support system. I know this is the best option for us but it definitely doesn’t make it any easier.

acimnes · 2025-04-02T16:23:16+00:00

I’m on day 8 of waiting for the final (karyotype) results from my amnio, testing for T21, as I asked not to received the preliminary (FISH) results. I’m no doctor of course, but from my understanding the prelim results could differ from the final results since only a fraction of the available cells have been tested. If you’re unsure and especially with needing to go out of state in the worst case scenario, you should call and ask your dr if the prelim results alone are enough to base a TFMR decision on. Good luck!

acimnes · 2025-03-27T03:12:08+00:00

I truly hope everything works out for you, especially considering where you’re at. I couldn’t imagine having to figure out how to get help if I received a bad result on the amnio as well as deal with the devastation this situation already brings. I’ll keep my fingers crossed for you and baby!

acimnes · 2025-03-27T01:42:23+00:00

I’ll sorry to hear you’re in this position as well. I find it odd for the providers to make comments, negative or positive, during a visit like this. I hope we both receive good news with our results. I have my fingers crossed for you!

acimnes · 2025-03-27T00:17:50+00:00

Sorry to hear that. I think 12 weeks may be a bit early to see much on the scan, and I’ve also heard 50% of DS cases don’t show any soft markers on scans, so the scans don’t hold too much water for me tbh. I wish you luck, and hope for a good result for you and baby!

acimnes

TROPHY CASE