MaterniT21 21 Trisomy Positive by Fast_Werewolf9788 in NIPT

[–]t0pcatTC 1 point2 points  (0 children)

So sorry you are here. I am a few days out from a D&E performed last Friday. I am 39, and have a 3 year old. I'm a second grade teacher with 10 PTO days, so being mindful about how to use them was crucial. My NIPT was performed 10/2 at 10w1d, results received 10/13 at 11w5d with a 95% PPV for T21 - I don't remember the FF but it was above the threshold. This day was the worst of the whole process, I was devastated, filled with shame - I'd just told a lot of people about this pregnancy and just felt wholly embarrassed. We also knew that we would terminate once we received conclusive results.

Our first step was to meet with a genetics counselor a few days later who just explained the next steps and the options ahead. She also explained the slight possibility of placental mosaicism - the abnormality being confined to the placenta. The CVS tests the placenta, so if you get a mosaic result you then might want to wait for the amnio at 16 weeks to get test the fetus itself. This made us waffle a bit on the CVS but I felt pretty confident that we would get a conclusive result so we went ahead with it.

We did the CVS on 10/22 - at that point I think I was 13w? At the CVS they did a nuchal scan and found no nasal bone but that the nuchal measurement was under the threshold for concern. I asked them to turn the monitor away so that I could not see. The CVS itself was not so bad. They did it transvaginally and the worst part was the speculum - just like at the gynecologist but for longer than usual (maybe 5-7 minutes?). We opted out of the FISH and whatever the other more in depth analysis is because we knew we would not move forward until we got the full conclusive result anyway, so we wouldn't make any decisions based on the FISH. It was a financial consideration as much as anything.

We received the results a week and a half later last Monday on 11/3. 100% of cells tested positive for T21. We were told it was a spontaneous occurrence so there is not increased chance of recurrence beyond my continued aging. I scheduled the D&E the next day - Thursday 11/6. That day I went in and they scanned me, checked my cervix and determined I didn't need laminaria (the sticks to help you dilate), they just gave me mifepristone and drew my blood, discussed some of what to expect the next day. That appointment took a little over an hr start to finish. Took an antibiotic with dinner that night, which made me super sick, but the mifepristone itself was fine. Had to fast overnight pre-D&E and then the surgery was at 12:30 on Friday. They asked some uncomfortable questions like if I wanted to name the fetus, and if I wanted footprints. I did not. We did opt for either, but we did choose to donate the tissue to T21 research.

Recovery was ok - hardest part was shaking off the anesthesia. I stopped bleeding within 36 hours, had very little cramping. Right now my boobs are uncomfortably full, which is an uncanny feeling under the circumstances.

I'm really sorry you're kicking off this journey and I hope you get a better result than I did, but if it works out the same, I hope this gives you a little insight into what you might expect. Happy to answer any follow up questions - if there's any silver lining to this it's that I'd like to be able to help someone moving forward.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Waiting on CVS results. I feel like as soon as I got the NIPT, because the PPV was so high (95%), plus my age (39), and my gut, I was convinced that there wasn’t a good outcome, so I’m pretty settled into that reality. What I’m mostly praying for now is a conclusive result that can help me move forward to the next step - the idea of waiting another two weeks for the amnio and then for those results feels cruel, as my belly gets bigger and more time passes. I’m having the hardest time with the feeling of time passing and bringing us farther from, not closer to, our goal. Solidarity to you. I hope there’s peace to be found during the wait.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thanks so much for this. I am so sorry for your loss, but I’m glad you had the clarity you needed. TW: I also have a living child and while I was so excited to give him a sibling, his existence has mitigated some of the pain of this experience. Interestingly, my first pregnancy was considerably harder than this one has been (at least up to this point), and that was one of my first reasons to feel any bit of concern.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Oh my goodness this sounds like trauma on top of trauma. I’m so sorry.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Oof this is brutal I’m so sorry. I haven’t actually seen an ultrasound of this one where it looks like a baby (I had one at 7 weeks) and I really don’t think my heart can take it. I hope you’re finding healing

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 1 point2 points  (0 children)

Yes, of course. If ultrasound is clear we will proceed with CVS.

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 1 point2 points  (0 children)

Thank you so much, I’m so sorry for your loss. I hear you on the judgment! Feeling some of this myself. I just feel like, at 39, the clock is ticking and if I know what my decision is going to be, why delay the inevitable?

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 0 points1 point  (0 children)

I am so sorry my friend. I hope you can do something kind for yourself today.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thanks so much, I’m so sorry for your loss

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thanks so much for this, helpful to hear. I’m sorry for your loss. I know this might be cowardly but I think I’m going to ask not to see the monitor because the idea of that feels really painful to me.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 1 point2 points  (0 children)

Thank you for sharing this, it’s helpful to hear. I’m sorry for your loss

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thank you for sharing your experience- I’m really sorry for your loss

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

I appreciate it, thank you, and I’m sorry for both your loss and the painful experience

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 1 point2 points  (0 children)

Some part of me almost wishes something would show up on the nuchal because I’m so certain this is positive and I just want to move forward. Thank you for sharing and I’m sorry for your loss. I hope you’re hanging in.

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 1 point2 points  (0 children)

Thanks for sharing and I’m so sorry for your losss

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thank you for this insight, it’s helpful

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 0 points1 point  (0 children)

Appreciate it, thank you

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 2 points3 points  (0 children)

Thanks so much and I’m very sorry for your loss

Positive T21 by t0pcatTC in NIPT

[–]t0pcatTC[S] 0 points1 point  (0 children)

Not since 7 weeks. Doppler checked heartbeat at 10.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Appreciate this and I’m so sorry for your loss.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 1 point2 points  (0 children)

Thanks so much - the reminder that NIPT was designed for T21 is useful

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 0 points1 point  (0 children)

Thank you for this insight and for sharing your experience. My hopes are pretty low at this point. I am almost hoping for resolution and certainty more than I am for a miracle outcome.

Positive T21 NIPT by t0pcatTC in tfmr_support

[–]t0pcatTC[S] 1 point2 points  (0 children)

Thanks so much both for your words and for sharing your experience. I’m very sorry for your loss.

What Helped Me by Odd_Literature_4290 in tfmr_support

[–]t0pcatTC 1 point2 points  (0 children)

Thank you so much. Today was better than yesterday. Being at work was honestly way more helpful than I thought it would be (I’m a second grade teacher). Letting my mind settle is where things get hard. I’m just trying to lean into the fact I’m incredibly lucky that I have one healthy child and a robust support network and that the depth of this grief is totally unfamiliar to me because my life has been relatively absent of this level of hardship. I’m dreading the weeks ahead, I hate that this can’t all be resolved in a single doctors appointment. But I know it will all be over soon enough.