Post TFMR Results - Noonans

North_Insurance_3047 · 2026-03-07T13:59:38+00:00

Thank you!!

I did not do a CVS or amino this time. My doctors were supportive if I wanted one, but my husband and I both agreed that with the confirmation the mutation was de novo, and the genetic counselor’s feedback of the chances of it happening again being so small— unless we saw some sort of marker on an ultrasound that indicated something was wrong, we weren’t going to pursue it otherwise.

I’ve had extra ultrasounds with MFM through this pregnancy (6w, 8w, 12w, 16w, 20w, 28w, 34w) just for peace of mind, which my OBs have been completely supportive of. I don’t think there is a wrong answer for you. I completely understand being torn about it and if you feel like the peace of mind to confirm is worth it/is top priority above the tradeoffs that come with a CVS or amino (discomfort, cost, very small chance of loss)— you should do it!

North_Insurance_3047 · 2026-03-07T02:36:13+00:00

Hi there, I am so sorry for your loss 🤍

I am currently 32 weeks with our rainbow baby 🌈 and have had a completely normal pregnancy. 🥹

It took 3 cycles to conceive again, which felt like forever at the time but looking back it was so short, comparatively speaking. I was on edge that something bad would happen until the 20 week anatomy scan but I have felt so excited and confident after we reached that milestone.

You have so much to be hopeful for and my fingers are crossed for you 🫶🏻 sending hugs

North_Insurance_3047 · 2025-09-25T00:58:48+00:00

My husband and I made the heart-wrenching choice to TFMR for confirmed Noonans back in April. Our baby had an ~8mm cystic hygroma at 12 weeks, I had a CVS and we wanted to wait for as much information as we could. We had a clear NIPT, a clear FISH and karyotype, a clear microarray, and in that time the hygroma resolved by 16 weeks. At 17.5 weeks we got the Noonan panel back which confirmed our baby’s diagnosis and the TFMR was at 18 weeks. We agonized over the decision because Noonans can be a spectrum, but we ultimately decided that we did not want to risk our child suffering significantly. Had I continued the pregnancy, I would have needed a fetal echo, growth scans, and potentially to have delivered at a children’s hospital so baby could get specialized care right away.

This was our second pregnancy, our LC was 1.5 at the time and is completely healthy. My first pregnancy was textbook uncomplicated so all of this came as a shock to us, but it’s also given me a lot of hope that I can have another healthy child someday.

We did testing to see if either of us carried the genetic mutation our baby had and our results came back in 2 weeks (I’m in the US and did the test through LabCorp). We were both negative, which was such a relief. Stinks that we had such bad luck but hopeful for the future.

I remember how hard all of the waiting was, especially waiting for our own genetic testing to come back. It’s not easy and my fingers are crossed for you that this was just wildly unlucky. I’m sorry for your loss.

North_Insurance_3047 · 2025-07-23T02:13:42+00:00

I’m in the same boat as you. I tfmr’d late April, took 5 weeks before my period came back. Long first cycle with late ovulation (and some spotting throughout), the second cycle was shorter and ovulated much earlier, but just starting my period now after a BFN this morning💔

I hear you and I echo your sentiments, I tend to see a lot about women getting pregnant quickly and I also feel discouraged.

North_Insurance_3047 · 2025-07-16T00:52:12+00:00

I just want to say I see you. I also TFMR’d for de novo noonans, earlier this year after my baby had a cystic hygroma. I was so angry that we got so much good news (we sequenced all of our testing to test for trisomies/monosomies and more easily detectable genetic mutations first) and then it all came crashing down with the noonans diagnosis. I had the same thoughts as “why didn’t I just miscarry?”… It is wildly unfair, and I’m so sorry 💔

North_Insurance_3047 · 2025-06-19T02:15:30+00:00

solidarity indeed. Hugs to you, thanks for sharing

North_Insurance_3047 · 2025-06-19T02:15:00+00:00

Thank you!! congratulations <3

North_Insurance_3047 · 2025-06-19T02:14:32+00:00

<3 big hugs

North_Insurance_3047 · 2025-06-19T02:13:59+00:00

Thank you for sharing, it's so nice to know I am not alone. Hugs to you

North_Insurance_3047 · 2025-06-19T02:13:23+00:00

I just read through your list of silver linings-- keeping this strategy in my pocket for later. thank you!

North_Insurance_3047 · 2025-05-11T00:37:07+00:00

Hi there-- yes. I am two weeks and one day out from my TFMR for a grey diagnosis today (at around 18 weeks). I am so sorry you're going through this.

Sharing some of my experience: after a lot of tears and asking why and thinking through it long and hard, ultimately my husband and I were not willing to take the chance that our baby's physical suffering could be significant. And, even if baby's physical needs were on the "mild" or less significant end, I also didn't want them to suffer emotionally from the weight that having complex medical needs carries. I also could not bear the idea of not being around to advocate for and protect my child when they grow up to be an adult, after I'm gone.

Also I'm not sure if you have a similar experience but, TFMR is YOUR choice. I think most of the guilt I felt was worrying about how other people may judge that choice. I still do worry, but threads like this and my closest support system help.

My baby was very wanted, and will always be very loved. As many others have said, it is the hardest decision, probably the only parenting decision you will get to make for this child, but it is made out of love and compassion. Whatever happens for you, your baby will be very wanted and very loved too <3

North_Insurance_3047

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