Sorry if this is a dumb question. I know aneuploidy is the loss or the gain of a whole chromosome, but when an arm is lost like 3p, what is it called? I was reading a paper and they said to calculate the rate of loss the used the aneuploidy score. So does that mean that is it considered an aneuploidy?
Hellos, we've had a slew of miscarriages from our (late 30s early 40s gametes) banked embryos and i think we're going to do egg donor soon. But then I was wondering what kinds of tests for male infertility should we look out for, including stuff for dna frag and sperm aneuploidy.
The only thing he's had done so far are semen analysis with what i think are usual parameters (nothing too far below "normal") and a check for varicocele (there was none). We're both in our mid 40s :p
I asked about dna frag before and our doc said it wasnt indicated, but i dont know why.
Any insight appreciated.
Fetal sex aneuploidies : unable to report
Fetal sexual : consistent with male
Does this mean my fetus could have kleinfelter’s syndrome? What are the chances this is a false positive and what are my next steps?
I already have an NT scan scheduled but not until next week. I don’t even think that would tell us much in terms of this syndrome anyway. What can I do now?
Thank you.
Hello,
Looking to see if anyone is in a similar position, and what advice, if any, you have for us
5 blasts we have produced in 3 IVF rounds:
- Euploid, frozen
- Aneuploid: tri/polysomy 1, 10 (paternal source)
- Aneuploid: monosomy 2, 6, 12; tri/polysomy 1 (paternal source)
- Aneuploid: monosomy 16 (maternal source)
- Aneuploid: monosomy 7, 8, 12, 19, 21 (paternal source)
My fertility doctor always said I was the issue (my age, my eggs) despite the PGS tests showing my eggs have only been the issue once in our embryos. At our insistence, my husband has since had a karyotype test (came back normal) and a DNA sperm fragmentation test (came back normal). And we have already been doing all the right things by changing our diet, exposure to toxins, daily supplements recommended for healthy eggs/sperm.
We are moving to a different clinic for our 4th round, but I don't just want to rely on our new doctor's opinion on the issue, so I am researching and also reaching out to you all to see if anyone else has had sperm checked out fine in tests, but repeatedly come back as the parental source of aneuploidy in embryos?
thank you.
I wanted to help a fellow redditor who wanted to try to a TESE but his urologist told him he would not do it as he believes that testicular sperm has higher aneuploidy rates. This is a bit outdated info since this notion comes from the older studies done with FISH testing for the 5 most common chromosomal errors in sperm. However, this didn't account for all other chromosomal abnormalities that were present in ejaculated sperm also possibly preventing live births from those who may have had poor sperm parameters. In general, there is a good amount of evidence that testicular sperm is helpful in cases of high dna fragmentation or previous failed ICSI cycles. It is obviously up to you to decide with your treatment team what the best plan for your care is. There is a shocking deficit in MFI and fertility care of those cases as well as high DNA fragmentation cases. If you decide you'd like to proceed with testicular sperm for your next cycle and need something to back up your requests you can use something like this below. Will you look like a nutjob sending something like this/bringing these studies with you to your next visit? Possibly, but it may get the job done and that's what you're looking for.
_________________________________
While I understand your reasoning regarding increased aneuploidy of sperm from testicular patients, there is new evidence available which not only supports the use of testicular sperm in cased of high dna fragmentation but also challenges the notion that it has increased aneuploidy risks. In fact, higher pregnancy rates and live birth rates are usually achieved in similar cases, which is our main goal here.
Older studies on testicular sperm and aneuploidy rates did not include all chromosomes when assessing “aneuploidy” rates of testicular sperm from the early 2010s (such as this https://pubmed.ncbi.nlm.nih.gov/22432504/).
- “Previous studies, including our own, have reported that spermatozoa isolated from the testis have remarkably higher occurrence of aneuploidy once isolated from azoospermic men. This notion, however, did not translate into a lower pregnancy rate nor a greater proportion of miscarriages. Indeed, ICSI offspring generated from surgically retrieved gametes did not suffer from increased karyotypic aneuploidy than children generated from ejaculated specimens. In recent years, aneuploidy assessments on a larger number of cells and
Just again pointing out that if you have Recurrent pregnancy loss RPL, get your partner tested. A lot of RPL cases are due to sperm aneuploidy. In women with RPL, men have very high abnormal sperm that is trisomic WITH NORMAL SPERM ANALYSIS. You will need full work up and sperm analysis is not enough.
This is looking at at ONLY 5 chromosomes in males with female partner with RPL. Meaning, it's much higher if they looked at all chromosomes. Women with RPL, their partners sperm were 40% abnormal with aneuploidies with normal sperm analysis (this is much much higher if all chromosomes were tested, this only looks at 5 of the most common trisomies) and 50% abnormal if something was low in SAs'.
"Normal" fertile males were only 5% abnormal.
Extrapolating to all chromosomes instead of just 5 tested would make RPL male partners have most of the sperm be aneuploid due to errors in meiosis divisions in the testicles.
"Aneuploidy in these chromosomes was screened because they are prevalent, also able to reach the term. In control group (Table 2***), totally 132 cells (5.2%) were abnormal, including 106 nullisomy and 26 disomy. Abnormalities were detected in (41%) of analyzed cells in RPL men with normal semen and (50.6%) of cells in RPL men with abnormal semen. "***
https://mefj.springeropen.com/articles/10.1186/s43043-020-00031-6
Semen analysis does very little for RPL work up. PLEASE have them see a fertility urologist, have them have sperm analysis, dna fragmentation and sperm aneuploidy testing at the very least (along with sono and labs).
Sperm can have abnormal chromosomal issues which do not show up in SA's. This can cause RPL in women along with dna fragmentation, sperm aneuploidy is a must for RPL women.
Is there a good way to induce chromosomal abnormalities (aneuploidy, copy number alterations of arbitrary segments) for each chromosome of a given cell? It doesn't really matter what type, so long as there exists some method by which every chromosome can undergo non-disjunction of some sort, over a number of different cultures of a single cell. Is there a way to create multiple oncogenic cultures of a healthy cell satisfying this requirement by exposing the cell to some potent compound that induces abnormalities? Does anyone know of such a drug?
Thank you!
I had the ClariTest done at 11 weeks and got my results last night:
Trisomy 18, 21, and 13 are all low risk
Sex chromosome aneuploidies showed up as Unable to Report
My FF is 4.7%
The comments said they were unable to yield a result but repeat testing isn't recommended.
I am not sure I got the name correctly. We had done the testing of chromosomal abnormalities in sperm and just got back bad results. Does anyone have this test done? We were advised to do this based on bad IVF results and a high fragmentation at 36%. The basic SA parameters were surpricingly good (not great, but better than our previous SA), basically everything was in range except the 1% morphology. I am curious about the results others got and how they proceed with the further treatment. It is quite hard to find anything relevant on the internet as this is quite specific testing that is rarely done.
TLDR; What would happen if a gamete that had two copies of a chromosome 'Z' fused with a gamete that had 0 copies of that same chromosome 'Z' (due to both gametes coincidentally having nondisjunction occur at the same chromosome)? I realize this is likely insanely rare/unlikely, I'm just really curious. Would this result in health complications? Has this ever been documented? Hypotheses welcome.
I tried googling my question but didn't have any luck. I understand trisomy/monosomy occurs when a gamete with 2/0 copies of a gene (as a result of nondisjunction) fuses with a gamete with one copy of a gene, creating a zygote with too many/too few copies of that chromosome that had the nondisjunction.
Recently learned about this in medical school and my mind was a bit blown about the computational scale of the problem.
How do algorithms do this efficiently in non-invasive prenatal screening for fetal aneuploidy? Is it a window that moves along the reference sequence at certain intervals until it reaches a certain threshold for a match? My understanding is that some fragments may be as short as 1000 bp, so this would require quite a small frame to find a match, no?
hi Embryologysts! i’ve a question for you: When you perform biopsy on embryos- do they reveal only aneuploidy or also translocations or more complex results? if they reveal also more complex results, is there any difference between NGS or Micro array CGH? thank you!
I read that transferring aneuploidy embryos can result in normal, healthy babies since the biopsies only remove a few cells and only those unlucky cells that were biopsies doesn’t determine that the whole embryo is abnormal .
when the aneuploidy embryo does transfers successfully, it can correct itself to have normal chromosomes in the womb. BUT a CVS must be done at 10 weeks to confirm if that embryo will have trisomy 21 etc . During that time you would be open about aborting. But one lady risked that and the baby was healthy So some theories say that many women discard aneuploidy embryos without really knowing they could have had a healthy baby.
That’s crazy though..
I wonder if anyone did that on here
Hi! have you ever seenzero euplody rate in young patients in repeated IVF cycle?
and then what you consider normal for late twenties patient(29) in terms of number of oocytes- fertilized - blastocyst number - euploidy rate? Thank you!
My first round I had 4 blasts sent for testing 3 were whole chromosome aneuploid and 1 is low level segment mosaic. I then switched clinics. My second round I sent of 6 blasts, 5 were abnormal and 1 high level segment mosaic. The weirdest thing is that in this second batch they were all either segment aneuploidy or complex abnormal. Could this be the result of poor biopsy technique? Everyone is puzzled why I can’t get a euploid embryo since my numbers are normal and I have two children unassisted (the youngest was 18 mos when I started the process to do pgtM).
ANeuploidy is caused by a nondisjunction during ANaphase
I just came up with it while studying lol. I hope it is useful
Mnemonic*** 🤦🏼♀️
https://pubmed.ncbi.nlm.nih.gov/29353506/?from_term=Sperm+aneuploidy+AND+morphology&from_pos=4
TLTR: poor morphology caused 62% “aneuploid” embryos with DONOR eggs vs normal morphology was at 27% rate.
Morphology contributes to loss and increased risk for aneuploidy in embryos / fetus
Also lower semen analysis parameters / morphology contributes to recurrent pregnancy loss (likely by above mechanism).
Low morphology can achieve pregnancy because it’s a numbers game. A lot of sperm will have aneuploidies but eggs can also correct diploid sperm issues to achieve live birth.
Donor eggs have greater capacity to repair sperm issues.
Do not ignore sperm or write off morphology like a lot of physicians do. It contributes to loss and increased risk.
https://pubmed.ncbi.nlm.nih.gov/26493117/?from_term=Sperm+aneuploidy+AND+morphology&from_pos=2
TLTR:
Result(s): Sperm progressive motility (30.2% vs. 51.5%) was significantly lower and abnormal morphology (74.8% vs. 54.2%) was significantly higher in the RPL group versus the control group, respectively. The percentage of fragmented DNA was significantly increased in the RPL group (17.1% vs. 10.2%) as well as the rate of spermatozoa with nuclear chromatin decondensation (23.6% vs. 11.8%). There was a significantly higher sperm aneuploidy rate among the RPL group as well.
Abnormal morphology should signal:
Dna fragmentation and oxidative stress testing
Sperm aneuploidy test
Semen culture
Just again pointing out that if you have RPL, get your partner tested. A lot of RPL cases are due to sperm aneuploidy. In women with RPL, men have very high abnormal sperm that is trisomic WITH NORMAL SPERM ANALYSIS. You will need full work up and sperm analysis is not enough.
This is looking at at ONLY 5 chromosomes in males with female partner with RPL. Meaning, it's much higher if they looked at all chromosomes. Women with RPL, their partners sperm were 40% abnormal with aneuploidies with normal sperm analysis (this is much much higher if all chromosomes were tested, this only looks at 5 of the most common trisomies) and 50% abnormal if something was low in SAs'.
"Normal" fertile males were only 5% abnormal.
Extrapolating to all chromosomes instead of just 5 tested would make RPL male partners have most of the sperm be aneuploid due to errors in meiosis divisions in the testicles.
"Aneuploidy in these chromosomes was screened because they are prevalent, also able to reach the term. In control group (Table 2***), totally 132 cells (5.2%) were abnormal, including 106 nullisomy and 26 disomy. Abnormalities were detected in (41%) of analyzed cells in RPL men with*** normal semen and (50.6%) of cells in RPL men with abnormal semen. "
https://mefj.springeropen.com/articles/10.1186/s43043-020-00031-6
Semen analysis does very little for RPL work up. PLEASE have them see a fertility urologist, have them have sperm analysis, dna fragmentation and sperm aneuploidy testing at the very least (along with sono and labs).
Sperm can have abnormal chromosomal issues which do not show up in SA's. This can cause RPL in women along with dna fragmentation, sperm aneuploidy is a must for RPL women.
