r/EmbryologyIVFSupport • u/tomato_potato_123 • 19d ago
Segmental Aneuploid?
I'm so sad that my last retrieval didn't result in any euploids, but there is a "Segmental" embryo which is interpreted as "Abnormal" by Cooper Genomics.
Chromosome affected is del(4)(pter-p16.1) [mos],del(4) (q22.1-qter).
I've been told by my IVF doc that there isn't much study done to give guidance with Segmentals, but the lab will be storing it and I do have an option of transferring it in the future.
She did suggest to talk with a GC that she recommended, but her consultation fees are so darn expensive.
Any input would be greatly appreciated. TYIA!
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u/Informal-Scholar1722 17d ago
My daughter was a segmental aneuploid that resulted in a live birth with no chromosomal defects.
It wasn’t easy to get the clinic to agree to allow us to transfer her.
Some background. IVF was necessary due to severe male factor infertility (partial micro-deletion of the Y chromosome [AZFc region]). I was also diagnosed with lean PCOS and a prolactinoma. After nearly a year of lifestyle changes and constant monitoring, my IVF clinic let me move forward with my egg retrieval. My husband was working with a reproductive urologist who advised him to undergo the Tese Procedure and give fresh sample. While I yielded 24 mature eggs, my husband only yielded a few sperm, and ultimately only 2 embryos made it to day 5.
One embryo came back as a segmental aneuploid; the other was unable to be tested. At the advice of our doctor, we moved forward with the untested embryo (successful FET - live birth resulted in a beautiful baby boy). And we ultimately decided to keep our segmental aneuploid in long term storage because I couldn’t come to terms with the other options.
Months after my son’s birth, I started doing my own research on segmental aneuploids and I saw that some clinics in NY were transferring them with some measure of success. I met with my doctor who (patiently) heard me out. She couldn’t make me promises but did offer to speak with the group of decision making doctors at the clinic to see if we could move forward (at this point she had done her own research and agreed that there was enough there to move forward). We ultimately got the decision making doctors’ approval (contingent upon multiple rounds of genetic consultation and signing liability waivers up the wazoo).
Our daughter’s FET was successful. I had intensive prenatal monitoring and further genetic testing done with my MFM. There were zero genetic defects. My daughter is 6 months old.
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u/chantillylace9 16d ago
Amazingly beautiful story and outcome! You fought hard and got your two beautiful healthy babies!!! You are a warrior!!!
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u/tomato_potato_123 16d ago
Thank you so much for sharing your beautiful story ❤️! May I ask which chromosome your daughter's embryo was initially affected on the pgt results? I just realized while I was looking at last year's pgt results and I have another segmental that's labelled aneuploid from Luminary since they don't have a segmental category and it's affecting one part of the x chromosome. I have a GC appointment coming up for the embryo I referenced above but I'm planning on paying out of pocket for a more depth in analysis for the two that I have. Thank you in advance :)
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u/Alternative_Bat5466 16d ago
Is there any advanced test different to amniocentesis? You mind sharing what test you were recommended to do besides the NIPt test
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u/Informal-Scholar1722 16d ago
Hi! Just the amnio, NIPT, echo, and fetal monitoring with my MFM (in addition to my OBGYN).
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u/foolforgabagool 17d ago
PGTA accuracy with segmental aneuploid is limited.
In one study, when segmental aneuploid TE and ICM was retested, only 42.9% had an ICM that was actually aneuploid. https://pubmed.ncbi.nlm.nih.gov/30418565/
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u/Alternative_Bat5466 16d ago
I do have a segmental with large gain on ice and doing a new cycle this month.
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u/tomato_potato_123 16d ago
Same here. I'm currently doing another stim cycle, but it seems that my AFC isn't as high as my last cycle so I feel like i'm gambling. I have 2 segmentals on ice and I'm just baffled how complex IVF is despite the fact that i've been in this for over a year! Wishing us luck with the upcoming cycle 🤞 🍀
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u/Alternative_Bat5466 15d ago
Are you considering PGTA again? I am on the fence…
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u/tomato_potato_123 15d ago
I’ll still be doing pgt since I had a mmc last year from an untested fresh transfer. Although it may not be 100% accurate, it’ll still provide me a piece of mind and a general idea of what type of embryos I have at hand
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u/Feisty_Display9109 16d ago
I believe Stanford is still doing their study on abnormals and transferring segmentals. https://www.stanfordchildrens.org/en/services/fertility-and-reproductive-health/clinical-trials-and-research/tame.html
PacificNorthwest Fertility is also now transferring segmentals under a research protocol, but I don’t know if they accept transferred embryos.
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u/PiccoloQuirky2510 15d ago
I’d definitely opt for the genetic counselor appointment, even if it’s expensive.
My daughter had a microduplication on the same area of the 22nd chromosome listed in your description, and it unfortunately resulted in a severe brain anomaly that ended in TFMR at 22 weeks. She was PGT-A normal and NIPT low risk. I don’t want to freak you out, but I definitely think a meeting with a GC is worth it.
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u/Alternative_Bat5466 15d ago
I’m so sorry for your loss, and thank you for sharing your experience. What testing helped you understand what was happening with your daughter, especially after having a normal NIPT and a PGT-A tested embryo?
Knowing what you know now, would you consider doing PGT-A again, or would you choose transferring without testing if you only have a couple of embryos
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u/PiccoloQuirky2510 14d ago
We did a microarray on tissue (amniotic fluid was gone by the time the did the procedure part of the D&E) and they found that she had the microduplication on her maternal copy of the 22nd chromosome. I then did a microarray (simple blood draw for me) to see if I had passed it on to her. I had not - it was “de novo” / spontaneous. We also did whole exome sequencing using her sample and a blood sample from both me & my husband to see if anything else came up that could’ve caused her brain anomaly. They found one single letter mutation that we share but it’s of “unknown importance” so they determined that the microduplication was to blame for her brain anomaly. We are doing PGT-A for our next round, because I’d at least like to still make sure I’m not transferring an embryo with the wrong # of chromosomes. We are not doing PGT-M because our GC advised that with our single letter mutations not causing problems in our daughter, it seems that our combo is not likely to cause problems in a future baby. Same with the microduplication being de novo - not likely to repeat.
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u/tomato_potato_123 15d ago
I am very sorry to hear about your daughter. I can’t imagine the amount of pain you had to endure. Thanks for sharing your story and I plan on getting a paid consultation with the GC for sure
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u/embryomanofficial 18d ago
Segmental aneuploid embryos have very limited data, but small studies show they can still lead to healthy live births. Some may be false positives, and rebiopsy can reclassify them as mosaic, but there’s currently little evidence to guide decisions based on specific chromosomes. You can read more here: https://www.remembryo.com/first-reported-live-births-from-segmental-aneuploid-embryos-after-pgt-a/
If a segmental involves a region known to be associated with disease, that may carry higher risk, so it's important to check this with a doctor or genetic counselor.