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Low level mosaic -duplicate partial segment X chromosome


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#1 islandecho

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Posted 11 July 2020 - 05:17 PM

I think its good to get info out and start passing info on as theres SO little info and almost impossible to make any kind of educated decision when theres no information even available to make the decision.
Out of 4 embryos we sent for testing 2 abnormal, 1 high mosaic and 1 low level mosaic. Im 39. I have two older children conceived without ART but now have no tubes so here I am.(different partner). From what out geneticist said with her seemingly EXTREME lack of knowledge of the low level results, one of our embryos has a partial additional segment of an X chromosome. So not a full additional X chromosome, I believe the report says a duplicate quarter segment. Meaning either an X or Y followed by an X and then another quarter segment on its own beside the full X. This could, in my opinion, resolve itself, it could mean absolutely nothing and maybe had we transferred we never wouldve known, or maybe it wouldnt stick, OR we could have a child with a full additional X chromosome. Which regardless of how serious I dont think Id want to risk anything. I guess Im wondering...how the heck can anyone know what will happen if no one is transferring these embryos? Im lost and dont know what to do. This embryo came back low level 20-40% well geez is it 20? Or is it 40%. Yes I could pay the $2000 and go through a frozen transfer and see where the chips fall. However, I get absolutely god awful hyperemesis gravidum with my pregnancies. Do I risk getting god awful so sick I wanna cry all the time, for the beautiful little embryo that wont even get a chance only to find out its actually become totally abnormal AND stuck.
Its just almost unfair to offer pgs testing with mosaic results if they literally cannot give you absolutely ANY findings for you to base a decision on. She told me that prior to 2020 (this frickin year!!!!) the pgs facility where mine were tested only ever came back normal or abnormal. Now they do mosaic too. Well wheres the line? Absolutely ANYthing under 100% normal is abnormal? Its all just so confusing. How many people have transferred so many mosaics and never knew and just had perfectly healthy babies? How many have babies that are not perfectly healthy and find out later with karotyping that it was a mosaic embryo. End of rant lol. Advice, thoughts, insights most welcome!!!

#2 Abi

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Posted 11 July 2020 - 06:14 PM

I’m so sorry you’re going through this. 
 

I’m also very confused about the testing, but I can share what my re told me about the testing done by Cooper Genomics. Hope it answers some of your questions. They use a technique called next generation sequencing or NGS. Mosaic embryos are defined as finding 2 results within the same embryo, 1 normal and 1 abnormal. Mosaicism is further defined as low level or high-level. In general 5-8 cells are removed from the embryo. If the abnormal result compared to the normal result is found in less than 20% of the cells then the embryo is considered normal. If the abnormal result is found in greater than 80% of the cells then the embryo is considered abnormal. If the abnormal result is found in 20 to 80% of the cells then it is considered mosaic. Current standards for mosaic embryos suggest that they only be transferred based on the type of abnormality and with the caveat that there are no normal embryos available. Most clinics do not transfer mosaic embryos that could yield a live birth with a known birth defect.


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#3 islandecho

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Posted 11 July 2020 - 06:41 PM

Yep we used Coopergenomics too :). So ours was classified low level, 20-40% what if its like 25% lol. So under 20% is euploid and 21% is abnormal. There are limitations and thats exactly what this shows. The sample is from what become the placenta so its not even truly the actual embryo and they find abnormalities in placentas all the time and the baby has none of them. Its hard to know what to do, though I did read that the x duplication is best avoided, so I dont think we would transfer. My gut would tell me to try one more cycle and see what results we get. The ONLY good thing is all our results were random, not one specific repeated abnormality...if there can be any solace maybe thats it :) I can see why some people just dont even bother with testing. My clinic in Vancouver told me only 10% of people do the testing as they truly dont see the worth unless theres rpl which in my case was true so maybe I just make not as many good ones :(
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#4 Cotton2

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Posted 13 July 2020 - 01:29 PM

This might be of interest to you. A whole extra X chromosome in women is pretty mild. 

 

https://www.mayoclin...es/syc-20350977



#5 islandecho

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Posted 14 July 2020 - 10:41 PM

This might be of interest to you. A whole extra X chromosome in women is pretty mild. 
 
https://www.mayoclin...es/syc-20350977


Frick trust me Ive gone down the rabbit hole 18 trillion times lol. From the studies Ive read, partial or segment low level mosaic which is what I have are generally confined to the trophectoderm which is what becomes the placenta and MORE often than not have no abnormalities at birth whatsoever. Also because mine is partial its almost certainly not going to magically turn into a full additional X. Unfortunately, theres just NO data on my specific mosaic and thats why Im so stuck on deciding.

#6 Cotton2

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Posted 15 July 2020 - 10:07 AM

IMO 100% the embryo is worth transferring if it's a girl. I'm pretty sure there is an exception to finding out the sex of the embryo if there is a sex linked genetic disorder at play. 

 

I knew someone with Turner syndrome (XO). Other than being pretty short she was pretty unremarkable. 



#7 islandecho

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Posted 15 July 2020 - 12:19 PM

Its not linked to turners. Its linked to Triple X for a girl or kleinfelders for a male. However, those are cases of FULL additional X chromosome whereas ours is segmental partial duplication low level meaning a small additional piece (again only biopsied from the trophectoderm not icm).
So instead of eitherXY or XX it is that with an extra little piece at the bottom of the one x. In Canada its harder to find out gender but if we pushed we could, but we wouldnt. Our genetic counsellor said its extremely extremely unlikely that partial piece if it was represented in the inner cell mass would magically become another full X, but to what extend an extra piece would have they dont really have any studies.

If it was turners i believe its a full missing X and 100% we would not be transferring, too high fetal involvement and just in general for us not worth the risk.

#8 happyfrog

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Posted 21 July 2020 - 06:52 AM

a friend of my friend had the transfer with mosaics, and lost her pregnancy. Only IVF PGS NGS worked out for her, and she has a healthy baby.



#9 islandecho

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Posted 21 July 2020 - 01:24 PM

Soooooo many women have successful pregnancies with low level mosaics, theyre actually statistically on par with euploids as of all the new studies that came out last month! So I dont believe all of that is necessary one single bit. I also see you posting non stop about ngs...what is it exactly? In fact, if I could go back in time I wouldnt have even tested. The body has an amazing way of self correction.

#10 Cotton2

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Posted 21 July 2020 - 01:29 PM

Even a PGS normal only has 60-80% chance of a take home baby. 



#11 DorothyandToto

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Posted 21 July 2020 - 06:21 PM

NGS is the newest form of PGS testing...it stands for Next Generation Sequencing

#12 returnable

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Posted 22 July 2020 - 05:43 PM

Even a PGS normal only has 60-80% chance of a take home baby. 

 

I would say that probability is too high. Do you have a source?



#13 Maybe

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Posted 22 July 2020 - 09:02 PM

Yeah. The highest possible would be around 55-65%.. and thats too optimistic I guesd

#14 DorothyandToto

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Posted 22 July 2020 - 11:04 PM

I have no written statistics...just what my doctor told me here at Mount Sinai in Toronto. She indicated their success rate for any given PGS normal transfer is approximately 60%. She said if the woman had a live birth prior, the chances could be as high as 80%.
Myself and another woman I know were successful on our first PGS normal transfers at this clinic, however, another woman I know had two failed PGS normal transfers in a row at this same clinic.

#15 Cotton2

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Posted 23 July 2020 - 01:03 PM

 

Even a PGS normal only has 60-80% chance of a take home baby. 

 

I would say that probability is too high. Do you have a source?

 

 

My RE gave me the 60% figure and now that I think of it, I don't remember if that was clinical pregnancy or take home baby rate. I've read the 80% number on the internet.