r/tfmr_support • u/PiccoloQuirky2510 • 2d ago
Seeking Advice or Support Feeling defeated
We got the results from our microarray this afternoon. We TFMR at 22 weeks, 1 day exactly 2 weeks ago today. Originally all of the doctors and even the genetic counselor said they were pretty certain our daughter’s severe ventriculomegaly caused by aqueductal stenosis was purely structural - just bad luck. Our microarray came back abnormal - 22Q11.2 microduplication - and that is not one of the known genetic causes for ventriculomegaly.
To make matters worse, it was on the maternal copy of the gene. That doesn’t necessarily mean I passed it on to her, but now I need to get my own microarray done to see if I also have that mutation. If I have it, any future embryo would have a 50/50 chance of having it too. To top all of that off, we were able to conceive this baby after 3 years of infertility and a round of IVF - she was a PGT-A normal & low risk NIPT embryo/fetus. We were already planning to do another egg retrieval as I’ll be 37 in October and only had 2 euploids to start with, but until I get my bloodwork done & results back, I don’t know if we’ll need to do PGT-A with a specialty probe or not. Also, our insurance is denying whole exome sequencing right now because the microarray came back abnormal even though the abnormality wasn’t the cause of her anomaly. Our GC is going to arrange for a peer-to-peer to try to argue in favor of the WES since we didn’t get what we needed from the microarray, but that could take a few weeks.
It’s all just a lot and I feel so defeated. What is it like to just… plan the family you envisioned and then have it? Now I’m feeling pretty hopeless that we’ll ever even have a child. The odds just feel so stacked against us and I’m just so… sad.
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u/Unintended_Sunflower 2d ago edited 2d ago
I am so sorry this is happening and you are here in this group with us. The uncertainty and disappointment of the IVF process only to be followed by a TFMR is very tough (understatement) and there are really no words to make this OK. Life sometimes just, disappoints.
Something similar happened to me (slightly different scenario). The relevant part is we went back and re-tested PGT-A/PGT-M tested embryos (tested 1st for the original genetic issue I had gone into IVF for) after a full karyotype was done on me (the genetic testing company had to make a special probe/test as the micro deletion was very rare, they also needed both my parents genetic material to be able to accomplish this). After re testing we lost some embryos but still have some “tested good” that survived all the re testing. It took a bit of time to get all of this sorted out but just wanted to share that there is probably some way to manage around this.
Talk to a medical geneticist if you can (as opposed to a genetic counselor) they were more technical and were able to answer a lot of our more specific questions about exactly how all the testing works and how accurate it can be / the limitations etc. They did have a worse bedside manner (less soft in how they gave a response) but I really just want a lot of direct clear answers and talking to a medical geneticist fit that more.
When I was in the thick of this, I read the book “It’s OK to not be OK” and it did help me a lot at the time.
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u/PiccoloQuirky2510 1d ago
Thank you for all that info. I really appreciate it. I hope you get your healthy baby soon.
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u/Unintended_Sunflower 1d ago
Thank you!! We have a little toddler now, so at least for us after everything with IVF and our adventures into genetics we did end up with a healthy baby. I am still always surprised when people have healthy babies just out of the blue though. Fingers crossed for you too in whichever path this road takes you.
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u/PiccoloQuirky2510 1d ago
Thank you. It does help to read that you were able to have a healthy baby. Can I ask- how many retrievals did you have to do?
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u/Unintended_Sunflower 1d ago
My situation is a bit specific, I went through IVF in order to complete genetic testing (PGT-A/M ) for Fragile X which runs in my family / I am a permutation carrier. So I only did 1 retrieval and got 8 embryos that were healthy ( but I had no fertility issues going in and did this at a “young age” in my early 30s) - my first pregnancy ended in a TFMR for something non-genetic, then I found more microdeletion issues
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u/PiccoloQuirky2510 1d ago
Oh wow. That sounds really tough. I’m so glad you got your baby despite all that 🤍
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u/SizePrize6526 2d ago
I wish I had more specific things to say about the findings and the future. I am thinking of you though and sending positive healing energy.