PGT-A Results Explained by a Genetic Counselor (Preimplantation Genetic Testing for Aneuploidy)

[@JA420love]

Hi thank you for the video. The new information based on a large study of 1600 pateients found that there is no difference in implantation rate of low and medium mosaic embryos. That is the new consensus. And the new recommendation is to transfer low and medium mosaics. Do you have an updated video with this new information?

[@TheOrsBecomingDads]

Thank you for this information, it helped us a lot during the clinic's off hours

[@donaldmao6817]

Igenomix testing results have helped us tremendously!

[@katieleecgctalksmiscarriage]

I am so happy to hear that! I am wishing you the best, wherever you are on your fertility journey!

[@MonteLogic]

This stuff is nuts!! If I don't get this test, it is a cruelty against humanity!

[@latanyaware5150]

Hello can you explain a Chaotic result?

[@monikamozere4602]

Thank you for your useful video. Did you had a chance to work on PGT-NGS? A technique that is used to sequence the genome of the pre-implantation embryo to observe not only the large structural variants but also point mutations?

[@kaoruyamazaki5724]

My embryos (we only have two) are both day 5 euploid 4AA and 5BB. Everything I thought was good until I noticed that the mitoscores were high. The 4AA has a mitoscore or 38 and the 5BB a 30.8. I’m not so concerned. We are using a surrogate and now I can’t stop thinking about the mitoscore. I’ve done some research on it and I know that the hypotheses have not been proven. And that the lower the score, the better. The higher score is often associated with an aging uterus and oocyte and I’m on 35. For us, it wasn’t even a female factor, but rather a male factor. But then I also read that the mitoscore is strictly determined maternally and not paternally. Can you give ma any more info on the mitoscore. Any idea or know of anyone whose good graded embryos have implanted regardless of a high mitoscore? Thank you 🙏🏼

[@sweetASrere]

Hi, did u have ur child? I hope everything went well

[@Cara.22.]

Hi! Did you move forward with a transfer ? If so are you open to sharing an update?

[@bellakhan9184]

What happened?? Conceived?

[@kaoruyamazaki5724]

We did do a transfer and both failed regardless of the fact that they were perfectly graded and euploid. 😢

[@bellakhan9184]

@@kaoruyamazaki5724 😢

[@linajimenez2144]

Are we sure that Euploid means 46 cromosomas? I have heard cases of Ebrios called Euploids and the embrio has triploydi. Why is people not clear with the language??

[@katieleecgctalksmiscarriage]

You are correct, I am simplifying things when I say that euploid means 46 chromosomes. When we see a euploid result that means there are likely 46 chromosomes in the biopsy sample. But there are limitations of PGTA, one of which is that triploidy or haploidy may not be detected. This is going to depend on the methods and limitations of the lab you use for PGTA. I would check the methods and limitation sections and check with your clinical team or the PGTA lab for details on your testing and limitations regarding detecting polyploidy. This video is a general overview of PGT-A. A video on specific limitations like detection of polyploidy/haploidy is a great idea.

[@Surocha1000]

Could you please let me know if a PGT-A test could weaken the embryo in any way? I’m considering not testing my embryos so they don’t go through an additional process since they are already going through a couple of thawing processes.

[@evgeniagasumova4487]

What are the limitations of PGT-A testing? How come medical literature report normal healthy birth from aneuploid embryos?

[@katieleecgctalksmiscarriage]

These are all great questions! Some limitations of PGT-A are that it only looks for large chromosome imbalances, the accuracy is not perfect, and that it cannot reduce the chances for birth defects. There are other limitations as well, so I would talk to your doctor if you have any concerns. Since the accuracy of PGT-A is often quoted at 98% at most labs today, there is a chance for a misdiagnosis- meaning an aneuploid embryo could actually be normal (euploid). There is also a chance that an embryo could be mosaic, meaning that it is an embryo with some aneuploid cells and some euploid cells. If the biopsy only contained the aneuploid cells, but the majority of the embryo was euploid it could result in a normal pregnancy.

[@evgeniagasumova4487]

@@katieleecgctalksmiscarriage 98% accuracy is only analytical part of testing. Laboratory instruments, collaboration, testing. What about pre- analytical errors in sample collection, sample cell selection for testing, storage, transportation, etc. These are pre- analytical errors in laboratory testing usually give much bigger % of errors. And post analytical errors? Per and post usually biggest % of errors on any laboratory testing. And analytical errors are only 1-2%....

[@bethoutlaw9981]

We found out we have a xq27.3 xq28 deletion in our one and only embryo. Our dr is willing to transfer her. What do expect, if anything she may face if she makes it to live birth?

[@cellcrazy1]

Hi Katie, thank you that was helpful. A) One thing I don’t understand… how can they know just from taking a few cells… that all the cells of the rest of the embryo will aneuploid (as in my case). Is this because when the cells divide they replicate the same material? You start to wonder if perhaps they have only tested the abnormal cells. I have just had my results back. My 5AB and my 6BA embryos are -8 and -21. Also - after my results, it is very hard to think about disposing of abnormal embryos. Do you think it’s possible that the science might change to allow an aneuploid to become more successful? Other than the cost, I’m tempted to continue freezing my precious embryos… just in case. Thank you

[@katieleecgctalksmiscarriage]

These are all great questions that point to the nuances of PGT-A results and the accuracy of your testing based on the methods used. If you haven't already, I would encourage you to discuss these questions and your results with a genetic counselor in detail. You are right that the results are performed using a small sampling of cells from the part of the embryo that will form the placenta if the embryos results in a pregnancy. There is a small chance those cells may not represent the rest of the embryo, but the vast majority of time they do. There have been studies done on aneuploid embryos donated to research, which show that if an embryo biopsy is found to be uniformly aneuploid, it is very likely (greater than 99% chance) that the rest of the embryo is also aneuploid. You can read more here- www.ncbi.nlm.nih.gov/pmc/articles/PMC9502046/

[@cellcrazy1]

Thank you, I appreciate your thoughtful response

[@tamamieajenkins8606]

My XY show complex abnormal -2 +7 18 +22(mos) My XX show complex abnormal -2 -7 +15 +16 +20

[@tins_2028]

Hi Katie, can you help me to interpret my igenomix result after my IVF perform genetic testing on my embryo. I would appreciate your help. I have 1 embryo trophectoderm 4BB D6 biopsied and result shows female baby, low mosaic trisomy 14 and 16. What’s the implication? Is there a chance I could receive this for transfer since it’s a low mosaic embryo? Is there chances also that trisomies will resolve later? I’m so concern about this and have no one to ask. I’m waiting on Monday to speak w my doctor but I just wanna ask your opinion if you could share your ideas. I would really appreciate your help. Thank you Katie. -Tina

[@vloveli]

What about the no result? Why are they keeping the no result? Does it have a high chance of implantation?

[@zharyazar952]

Hi.madam.. i didn't do PGT-A tesut prior FET ... My 1st IVF with 5AA unsuccessful... Soon going to do 2nd time... Madam wat ur advice

[@SanaFarooq94]

My igenomix test results don’t have a colum of morphology. Should we consider the motoscore ranking then

[@katieleecgctalksmiscarriage]

Great question. Morphology is assigned by your clinic. It sounds like your fertility clinic may not have provided it to Igenomix to include on the report. I would ask someone on your clinical team if your embryos were graded, what the grade/morphology is, and how that grade would affect ranking, implantation rate, and livebirth rate.

[@SanaFarooq94]

Thank you. I will be going in for a discussion on the report and will definitely ask them these questions.

[@hyoctane95asevt95]

Hi Katie, Thank you for making this video. You explained a few terms that I was curious about. I have a few questions regarding PGT-A testing and how in depth the testing is. My wife and I received test results recently with all aneuploid embryos. Most had multiple additional or missing chromosomes but one embryo has +15. Would there be additional reporting from PGA that further explains the additional chromosome such as being supernumerary or isodicentric? I’m considering requesting from our fertility doctor that specific information and I was curious if it’s even available. I feel I’m just holding out hope for a lost cause but I need to be realistic. Would a FISH test be the appropriate test and would the test confirm 11q-13q critical region present? Can a extra copy of 15 be present without that region? How is the chromosome identified other than shape and size if it’s been broken and missing sections? Thank you very much.

[@jh4375]

Couple of questions - what's the % of getting an inconclusive result on the PGT-A test, and how to approach transferring an inconclusive embryo and data on the success rate? Thanks

[@katieleecgctalksmiscarriage]

Great questions! At Igenomix less than 5% of embryo biopsies are inconclusive and I would expect most PGT-A labs to quote similar rates. If I was thinking about transferring my inconclusive resulted embryo, I would want to take into account the grade/morphology which ties into the success rate and age of the egg source. For example, if the egg came from a 25 year old egg donor I would feel pretty good about using the embryo because aneuploidy rates are low in young women. If it came from a 42 year old egg source, I would know that there is a high likelihood the embryo is aneupoid. I would weigh my options- would I want to risk rebiopsying it to get a result that may cause the quality of the embryo to degrade or would I prefer to just take my chances knowing that it is very possible I don't conceive or have an early loss. As far as success rates, I would essentially ask my clinic for the success rates they quote for untested embryos with the same morphology for egg sources of the same age. I am wishing you the very best with your embryo and whatever you decide to do.

[@MF-pk2gf]

This was my question as well. Thank you for the information.

[@tasvirahlawat]

@@katieleecgctalksmiscarriage hi Katie ,, can you told ,, in each month of lady ,,how many eggs retrieved from pgtA testing or is there any condition that 6 embroys are tested or single one also tested?

[@katieleecgctalksmiscarriage]

@@tasvirahlawat Thank you for watching and writing in with a question. I think you are asking how many embryos on average are tested with PGT-A for any given patient. The answer is- it varies. A person with ovaries and a uterus could get any number of eggs from a single egg from one eg retrieval to 20+ eggs. Then only 75% of the eggs might be mature, only 50-70% may fertilize and even less will make it to the stage where the biopsy is taken for PGTA. So it is very common for a couple or individual to have anywhere between 1-6 samples to test for PGTA after a single retrieval. If that doesn't answer your question, please send a clarification and I will try to answer.

[@lisaschmidt1243]

What about chaotic result. Someone online in an IVF support group had two chaotics retested as part of a study and they came back normal!?

[@katieleecgctalksmiscarriage]

Have you had a consult with an Igenomix genetic counselor or your IVF doctor? If not, that is going to be your best starting point. There is a chance that an embryo sample resulted as chaotic could indeed have normal cells and result in an ongoing pregnancy. There is not good data to say how often that is the case. A euploid embryo would be your best bet if you have one.

[@anh12488]

My specific fertility clinic relays these results to our doctor. Are we able to get a copy of the report to verify the results for ourselves?

[@katieleecgctalksmiscarriage]

Hello! You should always be able to get any copy of a report for yourself. In the US there is a requirement that genetic results are available for the patient, themselves. Ask your doctors office and if they don't give it then ask the laboratory who completed your testing.

[@TaniaDTV]

Thank you for the video. I have my results from igenomix, I don’t understand why there is Morphology ( one fair and one poor) on my PGT-A report? Can you please explain what it means?

[@katieleecgctalksgeneticcou6248]

Hi Tania! Thanks for asking this. When an embryologist at your clinic biopsied each embryo, they also assigned a grade as to how the embryo looked under the microscope. They share this information with the lab who puts it on the report so everything is in one place. The grade has nothing to do the with PGTA results. You could have an excellent looking embryo with abnormal chromosomes or vice versa. Since your clinic assigned the morphology, I would ask them more about that. You could ask them to explain what each means, if both embryos are normal you could ask what are the chances for implantation or a live birth with each embryo. Hope that helps! Wishing you the best

[@WhitneyMoree]

I have a 5BB with +1, +8q, -8q My doctor can’t explain it to me. Would this be a bad transfer?

[@katieleecgctalksmiscarriage]

What lab did you use for your PGTA? These results are complicated. A genetic counselor at a laboratory can explain exactly what the results mean and the risks and benefits of considering transfer. I'm so sorry your doctor could not help.

[@Nirvi1234]

Igenomix testing method is same in every country… in india doctors saying that they can not test for gender chromosome

[@txcuti1673]

Will any clinics transfer an embryo with monosomy 21? The issue with that being your only embryo from three retrievals. Can the test be re-run with the provided sample if it was shipped off to a different lab?

[@katieleecgctalksmiscarriage]

There are a few clinics who transfer aneuploid embryos- Stanford has a study called TAME (transfer of abnormal and mosaic embryos) and CNY has transferred aneuploids. You may want to meet with a genetic counselor to help make sure you understand the risks associated with the transfer and the likelihood for it to work. Pretty much any PGT lab would accept a new sample to test, but usually there is not good utility in retesting as an embryo with a uniformly aneuploid biopsy is very likely to have the same result again. You could consider discussing pros and cons to rebiopsying with your doctor.

[@txcuti1673]

@@katieleecgctalksmiscarriage thank you for that information. I have an appointment to talk to my doctor and genetic counselor with the lab next week. Their policy on transferring mosaic embryos is confusing because the website says they’ll do the transfer as long as you understand the risks and get the standard prenatal testing. However, my doctor’s nurse says they don’t transfer abnormal embryos. I know the PGT-A testing is a screening test, so that makes me want to fight for this specific embryo.

[@katieleecgctalksmiscarriage]

@@txcuti1673 I'm glad you have the appts scheduled. It wasn't clear from your first post whether the embryo result is mosaic monosomy 21 or uniform aneuploid monosomy 21. Most clinics will treat those results differently in terms of willingness to transfer because the chance that a mosaic embryo will result in an ongoing pregnancy is much, much higher than the chance an aneuploid embryo will result in an ongoing pregnancy. I hope and believe that the GC will be able to answer all of your questions.

[@txcuti1673]

@@katieleecgctalksmiscarriage the test result just said monosomy 21 and showed a deletion off the 21st chromosome. So, I am unsure of everything since the cells were shipped off to a different lab than the one present for my egg retrieval

[@txcuti1673]

@@katieleecgctalksmiscarriage I just keep hearing this is an aneuploid embryo. So, I hope my doctor and genetic counselor from the lab will have more information. Would my doctor know about that medical trial going on at Stanford you mentioned?

[@eachiamitchell9388]

I have a question?. i had testing on all 3 of my embryos and all we're abnormal? on 2 it stated that chromosones deletf and added again. my doc didnt know why. what can cause this? should I be concerned? what does this mean?

[@katieleecgctalksgeneticcou6248]

Hey Eachia. I am so sorry to hear that all three embryos came back abnormal. I hope you are hanging in there. I think there is likely some confusion regarding the interpretation of those two results. Sorry to hear that your doctor was not able to help. I would definitely recommend calling the lab that ran the PGT-A testing. Ask to speak with a genetic counselor there who will pull up your results and explain what is going on. You deserve to understand your results fully and if your doctor is not willing/able to look into it for you, the lab is going to be your best bet. I wish I could help further, but without seeing the actual report it is impossible to say more.

[@ellenbissmeyer8375]

Can you please do the same sample review with PGT SR result with Igenomix?

[@katieleecgctalksmiscarriage]

Yes! I'll see if I can get my hands on a de-identified report so I can record a video. Also Igenomix has amazing great customer support and a very large genetic counseling team. Although I'm not with them anymore if you just give them a call they can discuss your results or any pre-test questions with you for free.

[@skirtas28]

Thanks so much! You enlightened my day!!! 🙏🚼

[@katieleecgctalksmiscarriage]

Glad it was helpful! Thanks so much for watching.

[@skirtas28]

@@katieleecgctalksmiscarriage any chance you can share info on blasotacyst results: Aneuploid-Trisomy 3, Aneuploid-Trisomy 6 and Aneuploid - Monosomy 19 - any insight tips on what I could ask my Dr would be appreciated!🙏

[@lamaboudargham656]

Hello gréât explanation , I wonder as I am 38 did a round of IVF cycle but received only one healthy embryo out of 6, is that normal ?

[@kittymcnug]

Hello. Thanks for watching. Having one euploid/chromosomally normal embryo out of six is normal. That would not suggest to me that anything is wrong or concerning. Each embryo can be though of as an independent event, so these results also would not be predictive of an outcome of a future cycle.

[@diannawagoner1216]

All 6 of our embryos were abnormal. Can you tell what is the chance this would happen again with another egg retrieval?

[@katieleecgctalksmiscarriage]

I am so so sorry to hear that. Each egg/embryo is an independent event, so an all aneuploid cycle does not indicate that the next cycle will have the same results. As far as chances, it will depend on your egg sources age and whether the egg source or sperm source have any known chromosome rearrangements. How old is the egg source?

[@diannawagoner1216]

Thank you. I’m 40 years old. No known carriers. We did the typical test (ex: cystic fibrosis and others I don’t remember) we had no carriers out of those. My egg reserve is good. Is getting full genetic testing in both donors the only way to know the changes before another egg retrieval?

[@evamandri]

So sorry to hear this 😢 must of been devastating news for you. Was there any damage caused to your embryos during the PGT-A process? My first two attempts failed to implant and we are now wondering if we should undertake the PGT with 3 embryos left. Cannot imagine going through another 3 unsuccessful transfers, in case embryos are not chromosomaly ok 😢

[@Kajalshifin]

Hi dr , can i get an online consultation with you

[@sangeetachoudhary3617]

Hello, my question is I have one embryo with with D5 result of 4AB with mosaicism detected as loss of ch 10 (40%) and segmental mosaic loss in ch 19 (25%). What are the chances of it turning into a healthy pregnancy and shall I go for it Plz suggest Thank you

[@katieleecgctalksmiscarriage]

You are definitely going to want to have a detailed consult with your RE and a preconception genetic counselor to go over these results, risks and benefits of transferring, approximate pregnancy rates based on grade, mosaicism type and mosaicism level, and prenatal testing for follow-up if you do conceive. Many people do move forward with this type of embryo transfer if it is there only option and they cannot or do not want to purse additional retrievals. If you would like to have a detailed consult so someone can answer all of these questions for you and help you make an informed choice, I recommend my friend, Gina. You can visit her website at www.advocategenetics.com and schedule a genetic consultation that way, or you can reach out to our team email address ([e-mail]) and our practice manager/GCA team can help schedule. Advocate Genetics offers phone and video consults available M-F 9am-3pm EST. They typically have same-week availability.

[@uk3994]

I have 3 misscarige now dr recommend this test for me does it happen with healthy egg and healthy sperm aswell

[@halwinhassan829]

What about a -5p mosaic deletion embryo??

[@jam5188]

How are embryos actually tested? Is it a human reviewing or machine?

[@RG-uc1gg]

My clinic grate embryos using "good" "fair" "poor". They dont use rating 3/4/5/6 etc. I had three PGT tested embryos. First is day 5 BB good. Second is day 5 AB fair. Third is day 6 AB fair. They dont give anymore information. How is fair and good different than 4,5, 6 etc ? Thank you.

[@katieleecgctalksmiscarriage]

Congrats on your embryos. Different clinics using different embryo grading systems. I would ask your clinic for details on their grading scales. Additionally, all clinics keep historic data on their transfer success rates for embryos. If you are a numbers/stats person, you may want to ask your clinic, what is the ongoing pregnancy rate and live birth rate for D5 BB good embryos, D5 AB fairs, and D6 AB fairs? This will help you undersand how different or similar the embryos are in terms of chances of resulting in a baby. I am wishing you the very best in your fertility journey.

[@gauravmahajan4512]

Hello My one embryo is -16q aneuploid What does that mean and how much chance is of healthy pregnancy ?

[@katieleecgctalksmiscarriage]

Hi Gaurav. If I saw a result stating -16q, I would interpret that to mean that the embryo sample showed that all chromosomes were present in a complete pair, except for the 16th. One copy of chromosome 16 is typical and the second copy is missing a section from the q arm (or bottom half). I would ask my clinic/doctor if the result showed mosaicism (it may not show on the report). If the result was a mosaic -16q, based on current evidence, there may be a good chance of a healthy baby. I cannot speak to your individual result, as I cannot see it, so please be sure to follow-up with your doctor to learn more about your result in the context of your treatment.

[@chinweigwilo4885]

Grateful

[@IIRS87]

Hi Katie, How accurate is PGT testing in finding out gender of the embryo?

[@katieleecgctalksmiscarriage]

Great Question Rashmi! Most PGT labs quote a greater than 98% accuracy for sex chromosomes. Ask the lab you will be working with to get their specific accuracy!

[@moni10684]

That intro song was painful

[@katieleecgctalksmiscarriage]

I actually really liked it when I had it made. BUT you will be happy to know that the intro song fad has faded and my newer videos no longer have the song! Thanks for your feedback.

[@foziaawais5803]

Hi i had my ivf and send my embryo for pgd testing it came back abnormal +9+18 what are the chances of this embryo?

[@katieleecgctalksmiscarriage]

I am sorry to hear about your embryo result. There are a few things you could ask your doctor to better understand the chances. Are the +9 and +18 completely aneuploid or are they mosaic (did the embryo sample also have some detectable normal cells)? If the embryo is mosaic you might want to ask what level of mosaicism was observed for each error and what the grade of the embryo is. If the embryo is not mosaic, you may want to ask what the accuracy of the PGTA at that lab is and if they even looked for mosaicism. If the embryo is mosaic you may want to ask your doctor if they would recommend transferring it and why or why not. Some doctors are willing to transfer mosaic resulted embryos while others are not.

[@foziaawais5803]

@@katieleecgctalksmiscarriage Thank you so much for replying love you 😍