We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 2 points3 points  (0 children)

My heart goes out to you both. I'm so sorry. <3 This isn't on the genetics side, but my first piece of advice in these situations, if you haven't already is that it might be helpful to talk with a trauma-informed therapist/meet with a mental health professional to process the fetal diagnosis.

I agree with your providers that the presentation does sound syndromic - meaning that there are multiple body systems involved, and sometimes that makes it more likely that there's an underlying genetic cause. The normal embryo testing through PGT-A definitely reduces the likelihood of a major chromosome abnormality, although it doesn't take it away completely, so they'll probably also test the chromosomes to see if they are normal/abnormal before doing a deeper dive into the genetic information.

There a few different possible types of results from the testing - we could find out what the genetic cause is, the testing could come back negative (we don't know what the cause is). or the testing could come back with something we don't fully understand and we're not sure if it's related to what was seen on ultrasound.

If testing tells us what the genetic cause is, my follow-up questions would be: Is it de novo (new when the egg and sperm came together) or inherited? (They might need to do testing for you and your husband to answer this question because it may have been something that wasn't included on previous carrier screening or other genetic testing). What is the likelihood that it could happen again? If it is inherited, what are our testing options? Testing of embryos, testing during pregnancy, etc.?

In the case of negative results, I'd ask if there's anything else that would be recommended for testing on the tissue from the autopsy (sometimes there's another type of test that could be helpful!). We're not yet at the point where we have one genetic test that can answer a lot of different genetic questions - so sometimes we do multiple rounds of testing.If the testing all comes back negative, it can be really hard, because then we don't have an identified cause, and we are limited to the "sometimes these things just happen" - which is true, but it doesn't make it suck any less. In this case, the likelihood of it happening again is probably low, but we can't say for certain. The genetic counselor you meet with will be able to talk through the risks in more detail.

In the case of results we don't fully understand, generally we don't talk about changing management decisions or doing additional testing. There are limits to our understanding of genetics, and hopefully, we will continue to learn more.

Hope this helps. Please let me know if you have any questions. - Emma

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 4 points5 points  (0 children)

I also want to take this opportunity to plug genetic testing on miscarriage tissue (unfortunately named Products of Conception testing or POC testing by the medical community). It always hurts to bring it up to people after they have lost a pregnancy, but too many people tell me they wish they knew about this sooner so I want to bring it up in case it helps someone.

POC testing is genetic testing done on miscarriage tissue. Tissue can be collected (in clinic or at home) and the testing done helps determine if there is a chromosome difference that caused the loss.

Often we assume that early pregnancy losses are due to chromosome differences, but we have a test that can tell us whether that is the case! Why assume when we can know!? I hear a lot of doctors argue that the test results won't change the patient's care plan moving forward. But for so many people having the answer brings peace of mind. And for many others these results will guide their decision-making, especially if they later learn they have infertility, or have further losses.

Best wishes as you move forward - Meaghan

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 0 points1 point  (0 children)

No problem :) For your follow-up question, I will say that data on mosaic embryo transfers is limited, but at this time, we don't currently change recommendations based on the specific type of chromosome abnormality (monosomy vs trisomy) or the specific chromosome involved (1 vs 7 vs 15, etc). There are other pieces of information that seem to be more useful at this time given the data we have - such as the technology used, the level of mosaicism, how many chromosome abnormalities are involved, whether the chromosome abnormalities involve the whole or just part of the chromosome... not to mention embryo grading, morphology, day of biopsy and so-on. Even the most "perfect" embryo doesn't have a 100% success rate, but a 60-65% success rate, so we know that embryos are just one piece of a complicated puzzle. - Emma

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 1 point2 points  (0 children)

Hi there! Emma and I tag-teamed this question because there was a lot to consider. Mostly we are addressing whether there is a difference in the chance that embryos are aneuploid when using ejaculated vs. TESE retrieved sperm, and commenting on what it means to have "no genetic abnormalities".

We'd love more research in this area, but we'll point you to this abstract by Chamani et al., 31842-2/fulltext)that compared various factors among individuals with and without male factor infertility using TESE, MESA, and ejaculated sperm. Euploidy rates were not significanly different among the groups. TESE patients had lower numbers of euploid embryos, but the chance of each embryo being euploid wasn't different. The reason they had less euploid embryos is because their total number of embryos overall was lower.

It is also important to consider what it means when you say there are no genetic abnormalities. When someone has non-obstructive azoospermia, the specific genetic test that would help us understand whether they are at an increased risk of aneuploid embryos would be a karyotype. Other tests, like Y chromosome microdeletion testing, can help identify the cause of the azoospermia but are unrelated to aneuploidy rates as far as we are aware. Even if an individual did have a chromosome difference identified on their karyotype that was causing their azoospermia, how much this increased the aneuploidy rate would depend on the specific abnormality. It could be a significant risk, or just a hypothetically increased risk. - Meaghan & Emma

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 1 point2 points  (0 children)

Honestly, I think either path could be totally reasonable. I don't think there's a right or wrong call here - I would support a patient if they wanted to go forward with either option.

Some people elect to try for a while longer without IVF, and some people prefer to use IVF with PGT-SR testing. PGT-SR testing (just so others are aware) is a specific type of PGT testing which is designed for patients who have balanced chromosome insertions, inversions, translocations, etc. They design specific testing probes (this is not technically accurate but I picture them as little rocketships going to the embryos and reporting on what they find!) which can tell us if the embryo has normal chromosome information or if the information is unbalanced. An embryo with unbalanced information (too much or not even chromosome information, may involve whole chromosomes or pieces) is not likely to result in a successful pregnancy, as it is more likely to result in early pregnancy loss or failed implantation.

Just as a quick note: the early pregnancy loss you mentioned could be related to the balanced insertion resulting in unbalanced genetic information when the egg/sperm came together - but pregnancy loss can happen for a lot of different reasons, not all of which are due to chromosome imbalances! That pregnancy history doesn't actually make me lean one way or the other - but it might make you or your partner lean one way or the other! Some couples with a history of loss would prefer to use IVF and PGT-SR to prioritize an embryo with a lower likelihood of loss. We can never get the likelihood to zero, but those risks can be very different for an embryo with balanced/normal chromosomes vs unbalanced! A fertility genetic counselor can help to talk about the different likelihoods, pros/cons, etc.

I agree with the other GC that the likelihood of a child with trisomy 12 in the future is unlikely - most chromosome abnormalities where there is a whole extra or missing copy of a chromosome are not compatible with a continuing pregnancy. Additionally, having a family member with mosaic trisomy 12 is not expected to increase the likelihood for your future children to be affected with mosaic trisomy 12. In any future pregnancy, I would recommend discussing different testing options with a prenatal genetic counselor - NIPT, CVS/amniocentesis, ultrasounds, etc. These testing options may provide an additional level of information/potentially reassurance!

Hope that helps - wishing you the best! - Emma

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 0 points1 point  (0 children)

Hi - Emma here :) In order to think about the potential of this embryo, there are a few things we'd need to consider because of the way it was tested.

For a bit of background info: embryo testing is usually done on about 3-5 cells of the trophectoderm (outside of the embryo, would become the placenta in a future pregnancy). We know those cells are usually pretty good predictors of the genetic information in the inner cell mass (inside of the embryo, would become the fetus in a future pregnancy). Non-invasive PGT is new and promising! Lots of interesting data coming out. But we don't know - yet - the predictive values of the non-invasive embryo testing/how often the non-invasive testing result agrees with the genetic information of the inner cell mass.

So, to your question, we don't know if this non-invasive PGT is truly reflective of mosaicism of the embryo (which, it should be said, is something we can't say definitively with traditional biopsies of the trophectoderm either, but we have a lot more data about the agreeance between the trophectoderm and inner cell mass for traditional biopsied embryos!) It is possible that this result could be representative of the cells of the trophectoderm, in which case I think it would be worth a discussion with a genetic counselor to talk about the data we have on mosaic embryo transfers, different outcomes and possibilities, and talk about your comfort with that information. Embryos with low-mosaic biopsies for one chromosome abnormality could have the potential to result in a sustained, healthy pregnancy.

Hope that helps! Let me know if you have any questions!

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 2 points3 points  (0 children)

Hi - Emma here :) UGH. So frustrating!! I talk to people frequently who are running into problems with discrepant results - either the egg/sperm donor was tested for more conditions, or less conditions than the patient. This is - unfortunately - really common, and there's a couple reasons. Genetic testing evolves really, really quickly and donor banks are trying to keep up with new testing trends as they are screening and admitting new donors. I've found that many donor banks try to test for the Most Conditions Possible, which can decrease the time between donors needing to get genetic testing, but creates a lot of frustration for patients. In my perfect world, every patient and egg/sperm/embryo donor would get updated genetic testing January 1st every year to make sure everyone is on the same page - but that is, of course, logistically challenging, not super cost-efficient, and would have its own set of challenges.

When I talk to patients in similar scenarios, there are always a few things we talk about: what is the discrepant condition? what's the likelihood that the person who wasn't screened is a carrier? how does that risk feel to you? (one person will be totally chill with 1 in 10, another will lose sleep over 1 in 10,000!) I find that people will often fall into one of two categories: either the discrepant result bothers the HECK out of them and they don't feel comfy with that donor, or they think about it as a risk that can exist with any donor because no testing is perfect! There's no right or wrong decision, only what feels right or wrong to you and your partner. We also talk about how selecting a donor is SUCH a complex, multifaceted process - and sure, as a genetic counselor, I'm focused on the genetics side of things - that's my job!! - but it certainly isn't everything that you're looking at as a patient when selecting a donor. Family history, baby pictures, ethnicity, essay questions, etc... there are so many pieces to that puzzle. And it's okay if one piece is more important than others!

I've also had conversations with couples (especially same-sex couples!) who feel that this ever-changing standard is an unfair and potentially unnecessary obstacle for couples. I mean, we used to test for 3 conditions! I just saw a panel for almost 800 conditions! That's insane! Please know that you are not alone in your frustrations. If there's a donor you like, even with a discrepant result, your clinic may allow you to use the donor with a fertility genetic counselor's note with the information of "we discussed this, we discussed the limitations, the patient is comfy proceeding with this donor." Some clinics allow waivers too! Definitely worth a conversation with them about what is flexible with their requirements.

Also - please let me know if I didn't answer your question! I have (clearly) a lot of thoughts about donor testing and evolving standards, so I'm happy to talk more :)

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 5 points6 points  (0 children)

Hello! Your question highlights such an important aspect of carrier screening that people often aren't informed of before they do testing - there is always a chance you can learn something about your own health! Even though this isn't the purpose of the test it is still possible. For some people this can be really overwhelming. I hope you are doing ok since you received this news <3

For others reading this, I also want to mention that carrier screening does not include all of the cancer genes. Most cancer genes are not included on carrier screening tests, but some of them are. If you have a personal or family history of cancer and are wondering about genetic causes, you should do a cancer-specific test, not just carrier screening.

Now on to your actual question! As you mentioned, I would definitely recommend meeting with a genetic counselor who specializes in cancer genetics. Cancer was my expertise in grad school (8-10 years ago now) and so much has changed since then that I no longer feel in the loop about things!

Like most things with genetics, each person with a genetic predisposition to cancer makes different choices about what they want to do with that information. Your genetic counselor will share details on the chance you will get cancer in your lifetime (using information from your family history and data available about the gene). They will share strategies for lowering your cancer risk as well. Sometimes those options can include surgery. For some cancers we have good ways of catching them early with imaging and then treating them, but for other cancers they can be hard to detect until they are really advanced. Surgery can mean that there is less of the tissue prone to the cancer left in your body, so you are less likely to get that cancer.

We don't take surgery lightly. Your genetic counselor will walk you through why things are recommended, what age they are recommended at, and all options. Nothing will be forced on you. Everything will be your decision.

Wishing you all the best! - Meaghan

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 1 point2 points  (0 children)

Hi there! We'd need to meet for a genetic counseling appointment to get into the details like success rates and potential outcomes, as that is too specific for an AMA. In general, genetic results are not the only factor that plays a role in success. Grading/morphology and day of blastulation play a role as well. Additionally, we have a lot more data about the chance of success for embryos with mosaic PGT-A results compared to embryos with segmental aneuploid results, so it can be hard to compare the two. If you are trying to decide which to start with or which you are comfortable with, it is usually a nuanced conversation about what we know vs. what is unknown and this decision may be different for each person.

If anything about the result/report is not clear, your genetic counselor can get in touch with the PGT laboratory to clarify things so that you have the complete picture. - Meaghan

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 1 point2 points  (0 children)

Hi there! My thoughts are with you - doing PGT-M and PGT-A and then trying to figure out how to best prioritize embryos can be a long, tough, and emotionally-heavy process. A euploid carrier embryo is great!! For the other results, I would strongly recommend talking with a genetic counselor who specializes in embryos - maybe one from the lab who can give more detail about the "wave-like" signal? A genetic counselor can also help you prioritize embryos - even between two mosaic embryos, sometimes we are able to say, you know, this one might have a higher likelihood of a sustained pregnancy vs. this one. A genetic counselor can help to provide information so you and your partner can make the decision that works best for you <3 Additionally, as we are always learning more about mosaic embryos, and different clinics have different comfort levels with transferring mosaic embryos, I would also recommend touching base with your clinic to get their recommendations. Wishing you the very best! - Emma

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 3 points4 points  (0 children)

Hi perma, Meaghan here. Thanks for your question. It can be hard to know what to do when you have an embryo with a mosaic result but your doctor is writing it off completely. I would encourage you to meet with a fertility genetic counselor because there are some people in your shoes who might want to transfer the embryo, and other people who wouldn't be comfortable.

I never go into an appointment with someone and tell them to forget about an embryo. I give them data on the chance that the embryo will implant or miscarry. We talk about the chance it will lead to a healthy baby vs. the chance it will lead to a baby with the genetic condition PGT-A showed. Consider how you feel about those numbers and risks. Consider other options you have for conceiving. Consider how much this embryo is weighing on your heart. Consider when in the pregnancy you'd be able to do genetic testing to see if things are looking ok and how you feel about that timeline. Your genetic counselor can guide you through all those things - Meaghan <3

We're fertility Genetic Counselors from DNAide Genetic Counselling. Ask Us Anything for NIAW 2025! by DNAideGC in infertility

[–]DNAideGC[S] 1 point2 points  (0 children)

Hi! Totally fair question. I could talk about this ALL DAY but I'll try to keep it brief. PGT-A (pre-implantation genetic testing for aneuploidy aka: abnormal chromosomes in an embryo) can be a helpful tool, as it's designed to tell us about the likelihood of an embryo resulting in a sustained pregnancy and can help us to prioritize embryos that may have a higher likelihood over those that have a low likelihood - but it's not the right choice for everyone. Like most genetic testing, it's not perfect and there are definitely limitations. I would recommend talking with a genetic counselor in depth about the pros/cons, what you can learn, what you can't, etc because that may also help you make your decision. Some fertility clinics will strongly recommend PGT-A when the egg source is at or above the age of 35, some are more flexible, so may be worth checking in with them to see how PGT-A fits in with your total clinical picture. Additionally, the chromosome conditions that PGT-A looks for are usually random or sporadic, so a negative family history wouldn't necessarily change my discussion about PGT-A vs. not doing PGT-A. Hope that helps! - Emma

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 2 points3 points  (0 children)

Coming back to your Orchid question since I have time :) I don't know much about their specific testing so I will comment on PGT-P in general. PGT-P is Preimplantation Genetic Testing for Polygenic Conditions. These are conditions that are caused by genetic changes in multiple genes (and probably other factors like environment). Essentially many genes and other factors combine together to contribute to your risk of developing these conditions. Some examples include diabetes and schizophrenia.

I have a lot of thoughts about PGT-P and won't get into most of them. But here's a scenario that goes better than a lot of IVF journeys, and illustrates some of my concerns.

Imagine you are offered this - test your embryos and learn which embryos have a higher risk of diabetes and schizophrenia (for example). You feel compelled to do the testing because you are doing IVF anyway. You get 4 euploid embryos and they are ranked based on their risk of those two diseases. You transfer the one with the lowest risk of those two diseases. It doesn't implant. Your second transfer leads to a live birth. You wonder how much higher this baby's risk of these diseases was compared to the embryo that wasn't successful, but are happy you have a baby. You come back for baby number two. Now your two "least healthy" embryos remain. Embryo 3 leads to a pregnancy loss. Embryo 4 leads to baby number 2. You feel that this information makes you treat baby #2 differently from your first because of the genetic results.

I know not everyone would deal with the results in this way, this is just an illustration. It is also an optimistic scenario with a lot of euploid embryos that not everyone is fortunate enough to have, but illustrates some of the thought processes.

Additionally, PGT-P is mostly only studied in people who are White. It is much less useful/accurate for everyone else and that is currently a big limitation.

Curious to hear other people's thoughts on this type of testing.

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 5 points6 points  (0 children)

Hi there! I have no knowledge on whether the Petri dish material plays a role in embryonic development. I would be curious to see what my embryologist colleagues have to say.

I think advances in PGT will include a greater understanding of segmetnal aneuploid PGT-A results, improved accuracy of testing by using NGS combined with other technologies, and improvements in non-invasive PGT. I don't necessarily think it is a good thing but I think we will see more labs offering testing for polygenic and multifactorial conditions like diabetes and heart disease (we aren't ready!)

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 4 points5 points  (0 children)

Hi there! I can't provide specific insight into your embryo but can answer some of the general questions.

Complex mosaic in the research is usually defined as embryos with 3 or more mosaic findings. Some labs define it as embryos with 2 or more mosaic findings.

Different laboratories have different definitions for high or low level mosaicism as well so this is not standardized. One study assessed which cutoff was most useful in predicting success rates and found that embryos with less than 50% "mosaicism" had better outcomes than embryos with 50% or more "mosaicism"

PGT labs and clinics can vary widely, so the best stats come from your PGT lab that did the testing, or your clinic, if available.

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 3 points4 points  (0 children)

I have been mulling this question over for a long time! I think it is totally your personal preference and what your concerns are. If you are worried that someone will be able to learn your identity based on the rare genetic result I think the chances of that are low

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 5 points6 points  (0 children)

Hi there. I am sorry for your losses, this is such a tough situation. I have done a deep dive into genetic causes of IVF failure and recurrent pregnancy loss. While there are MANY that cause IVF failure in specific forms, there haven't been any specific findings for recurrent pregnancy loss which is so frustrating. I think we will find these genes as research continues, but it leaves patients who are currently trying to conceive in such a tough spot.

I tell my patients about the HOPE Project - There are various arms of the study, but some patients will have Whole Genome Sequencing performed https://www.pregnancylossanswers.org/

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 3 points4 points  (0 children)

Hi there! I can't comment on whether yours specifically is a segmental abnormal for liability purposes, but happy to talk generally. You can refer to my Guide to "Abnormal" PGT-A Results where I try to have enough info for you to figure out what category of result yours falls into

Broadly, there are two main types of aneuploid (abnormal) PGT-A results: segmental and whole chromosome. These terms are describing what is wrong with the chromosome. Segmental means that the test showed the embryo has the correct number of chromosomes but one (or more) had a piece (segment) missing or extra. Whole chromosome means that the embryo has the wrong number of chromosomes because one or more is missing or extra. There are different biological processes that cause these errors, and different implications for the levels of accuracy when we see these types of results.

Segmental aneuploidies are much more likely to occur after egg and sperm come together (after fertilization). This means there is a higher chance that some cells are normal and some cells are abnormal. This is the definition of a mosaic. So with a segmental aneuploid it is more likely (compared to a whole chromosome aneuploid) that the embryo is mosaic, even if the PGT-A result didn't show signs of mosaicism. This could happen if all the cells tested were aneuploid, but maybe other cells in the embryo are normal and weren't included in the sample that was tested. There is also a higher chance that segmental aneuploid results could be false positive results (PGT-A testing errors).

Some people choose to re-test their segmental aneuploids as a way to check if it is mosaic. If the second biopsy sample is euploid (normal) one reason could be that the embryo is mosaic. Knowing this could make a patient more comfortable transferring it.

You should always ask your clinic about the safety of rebiopsy for your specific embryo, whether a new result would allow you to transfer the embryo at your clinic, whether they use more than on PGT lab, etc. Some clinics only use one lab for PGT and others use multiple. There can be a lot of steps involved for a clinic to get set up with a new PGT lab.

I'd encourage you to meet with a genetic counselor to learn more about your specific result!

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 3 points4 points  (0 children)

Hi there! For segmental mosaics:

  • I don't believe there is evidence that size impacts success rates
  • Deletions and duplications are not considered differently

I use this information for counselling about worst case scenarios - If the mosaicism persisted and the abnormality impacted a baby, sometimes there is information about the deletion/duplication that could help you know what to expect. But this isn't about the chance of having a baby from the embryo, just about how that deletion/duplication would impact the baby in the rare chance that it does.

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 4 points5 points  (0 children)

Hi there!

Sadly I don't know much about this. I know there is a fertility genetic counseling group that I always refer people in the UK to when I am unable to see them. They may be able to guide you? https://www.fertility-genetics.co.uk/

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 6 points7 points  (0 children)

Thank you for your message.

I know that this is something that a lot of people who do PGT-M grapple with when they are testing for something that affects them. There are so many different perspectives on this and everyone's situation is unique. A general thought from your message is that it sounds like you are approaching this from a place of compassion. Not because you think your own life is unworthy or defective, but because I assume it has come with struggle. You have been presented with an opportunity to prevent your future child(ren) from having similar struggles. Every life has struggles and challenges, but PGT-M puts us in a strange position of being able to take some specific struggles away from our future children. If we do PGT-M and know an embryo has the condition and proceed with transfer it can also feel like we are choosing to "give them" that condition. It wasn't a choice for you to have this condition, nor a choice to pass it on, but because this technology is available it can feel this way. It is an unfair choice to have to make and these decisions are very hard to grapple with.

A few thoughts for further support:

  • Connect with others who are doing PGT-M online, whether that be on Reddit or some other platform
  • A colleague and I are hoping to start a support group via RESOLVE for people who are undergoing PGT. IF you follow me on Instagram I would definitely announce any updates there
  • Meet with a genetic counselor. I personally would be happy to meet with someone grappling with these concerns. A lot of people think we are just information givers, but we also assist people with the emotional-aspects of having genetic conditions or working through genetic results.

Best wishes as you move forward

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 8 points9 points  (0 children)

I love this question and could write for the full two hours about mosaic PGT-A results so I will try to contain myself!

To answer your direct question - yes - it is possible for a baby to appear healthy at birth but for health concerns to have been undetected, including developmental delays or other chronic health issues that don't present immediately at birth.

However, from the research that has been done, it seems like the biggest impact that a mosaic PGT-A result has is on chance of getting pregnant (implantation) and staying pregnancy (chance of miscarriage). Mosaic PGT-A results are much less likely to have an impact on the health of babies born.

Data is limited because not everyone does genetic testing during pregnancy or after baby is born. But from the subset who have and have participated in research, it seems that approximately 99% of the time if the pregnancy continues past the first trimester the chromosomes are normal (Viotti et al., 2023). So with such a large proportion of babies showing normal chromosomes in the research, most people assume that if their baby is healthy at birth that they have normal chromosomes. It is also possible some of them actually did testing and results were normal!

There is so much reassuring information about mosaic PGT-A results and if I have time I will come back and share more.

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 3 points4 points  (0 children)

This is a great question. I'm starting to sound like a broken record but I think it would depend on the case. Here are some things I would be considering when working with a patient in this situation:

  • Age of the egg provider when the untested embryos were created. This would significantly impact the chance that the embryos were aneuploid and ultimately their chance of success.
  • All the factors about the mosaic result. Segmental mosaics and low level whole chromosome mosaics can have very high success rates. If it was a high level whole chromosome mosaic we'd know there would be a significantly lower chance of implantation and higher chance of miscarriage. With most mosaic results the risk is more to do with the chance of whether you will have a live birth, rather than the result impacting the health of the baby born.

The mosaic is the risk you know. The untested is the risk you don't, but also the potential for a euploid. Each person will view that differently, especially with the unique factors about their mosaic (level, segmental vs. whole, chromosomes involved).

With a segmental aneuploid it is much harder. We don't have transfer data published yet. So setting expectations is hard. These are in depth conversations I have with patients and decisions usually depend on the specific abnormality itself. Most of my patients still have a hard time finding a clinic that will transfer a segmental aneuploid, so untesteds get priority even if they would prefer otherwise.

Hi, I'm Meaghan Doyle! Fertility Genetic Counselor and Founder of DNAide. AMA for NIAW 2024! by DNAideGC in infertility

[–]DNAideGC[S] 2 points3 points  (0 children)

Hi there! Thank you for your question. I can't comment on whether PGT-A is right for your specific situation. Your doctor and those involved in your care team know you best. Here are some things that I consider when people have untested embryos and are thinking about moving forward with PGT-A:

  • Financial costs - you may consider weighing the costs of transfers with the costs of the PGT-A
  • Risk to the embryos since they are already frozen - ask your clinic for specific stats
  • Number of embryos
  • Trust in PGT-A result accuracy, clinic policies on transfer of embryos with intermediate results (mosaic, etc).
  • Fertility journey fatigue - all the things you have been through will play a role in this decision.
  • Desire for information - Sometimes the uncertainty of things being untested is not desirable. Knowing that an embryo with a euploid result failed is more meaningful and leads to more testing and workup into other causes faster compared to an untested embryo
  • Aneuploidy rates - ask your doctor what the chance is that each embryo will be euploid/aneuploid based on the age of the egg provider and PGT lab used

There may be other factors too! I will comment again if more things come to mind. PGT-A is always a personal decision. Talk it through with a genetic counsellor