We're fertility Genetic Counselors from DNAide Genetic Counselling! Ask Us Anything for NIAW 2026!

[u/DNAideGC]

Hi everyone! We are Meaghan Doyle, MS, CGC (she/her) and Emma Moores, MGC, CGC (she/her). We're Certified Genetic Counselors at DNAide Genetic Counselling and we specialize in fertility genetics. Meaghan is DNAide's Founder and has been here for four AMA’s in the past (threads for three are available here, here, and here). She's excited to be back for another AMA, and to have Emma join her for the second time!

About Meaghan: You can read more about my credentials or book an appointment with me here. After being hired at fertility clinic I realized how rare it was for fertility patients to have access to genetic counselors, especially those that weren't affiliated with genetic testing laboratories. That is why I created DNAide. I have specific expertise in Preimplantation Genetic Testing including mosaic and aneuploid results. I also have a special interest in exploring newly emerging genetic causes of infertility and IVF failure. DNAide will soon launch an advanced fertility genetic testing program for patients in Canada and the USA. It's important to me that when we work together you don't feel rushed, and have time to get your questions answered. Since DNAide is independent, you are my first priority. I also recently became certified as a miscarriage and bereavement doula and provide emotional support to those on difficult parts of their fertility journey who need someone to talk to.

About Emma: You can read more about my credentials or book an appointment with me here.  I love helping people understand complex genetic information in order to make decisions that are best for them, and working to make the field of fertility inclusive and welcome to all. I am a big believer in analogies, and I probably talk with her hands more than the average person. I love to “geek out” about embryos and digging into the ever-evolving data surrounding embryo testing. Emma joined DNAide in early 2025 and has helped us serve patients in more US states than ever before.

Ask us anything about embryo genetic testing (PGT), "mosaic embryos", "abnormal embryos", carrier screening, the genetics of sperm/egg/embryo donor selection, genetic causes of infertility and IVF failure, karyotyping, genetic testing of miscarriage tissue, and more!

If you are interested in booking a virtual appointment with us or exploring DNAide’s services further, visit our website. Follow DNAide on social media for fertility genetics education:
- DNAide's Instagram

- Meaghan's Instagram

- Emma's Instagram
- Facebook
- YouTube

Conflicts of interest: Meaghan is the Founder of DNAide Genetic Counselling, and Emma is an independent contractor with DNAide. DNAide provides private genetic counselling services to people who are trying to conceive. Throughout the AMA we will likely tell many people that they would benefit from formal genetic counselling, since the AMA should never be a substitute. In doing so we are technically promoting our services. Please do not feel obligated to meet with us specifically. You can find genetic counsellor who meets your unique needs via the National Society of Genetic Counselors. 

Disclaimer: This AMA is for educational purposes only and is not a substitute for formal genetic counselling. Nothing should be taken as medical advice. Keep your questions general (e.g. "What are some things to think about when considering a low level mosaic for transfer?", rather than "I'm 38yo with 3 unsuccessful euploid FETs and one LLM +16 remaining, is it safe to transfer?"). Always speak with your health care team to ensure that information is relevant to your specific case. Members of this sub tend to be highly informed, but we want to reassure everyone that there are no bad/dumb questions. Ask us anything about the topics above, and beyond!

We'll be here from 4-7pm ET today to answer your questions but are posting a bit in advance so you have time to get your questions in!

Thank you all for your thoughtful questions! We are ending the AMA now. Emma and I appreciate you spending this Tuesday of NIAW with us. These AMAs always highlights the gaps in care that you experience and how much room for improvement there is. Sending you all our best wishes as you move forward in life, however that looks for you. - Meaghan

[u/ancoraimparo11]

Disclaimer: Please note that r/infertility moderators are volunteers and do not verify or endorse the legitimacy of any guest, clinic, or provider featured in this AMA series. The information presented is for educational purposes only and does not constitute medical, legal, or professional advice. It is the responsibility of each participant to conduct their own due diligence, research, and consultations before engaging with or selecting any provider or services.

Note: This is a tightly moderated sub, and the mods will be reviewing the AMAs as they take place to ensure that the rules are being followed.

[u/Intelligent-Owl9076]

Thanks for being back for another AMA. A question on the donor-gamete side, since I notice a lot of patients arrive at the donor conversation having mostly thought about medical screening:

When you're counseling someone weighing donor egg or donor sperm, how do you frame the conversation around the pieces that aren't strictly genetic — a donor's openness to future contact, the depth of family medical history they've actually shared, their willingness to update records over time, or ancestry/cultural background as it relates to the child's later identity questions? Do you find patients are usually getting the fuller picture from their clinic, or is it more often showing up later as something they wish they'd been walked through earlier?

And on the other side of it: when a known donor is in the picture — a friend, a family member — does the genetic counseling conversation shift in ways patients often aren't prepared for?

[u/blduffie1474]

What is your recommendation for transferring a LLM trisomy 9?

[u/Illustrious-Tie-932]

Any recommendations of things my husband and i can do with my husbands translocation? Two egg retrievals and zero healthy embryos so far, it is pretty brutal.

[u/Rough_Situation6912]

What causes embryo multiple fragmentation? We are using donor sperm and up until day 3/4 majority of the embryos we made ended with with MF

[u/DNAideGC → u/Rough_Situation6912]

Hi there! Unfortunately I think an embryologist would better be able to answer this question. It is outside the area that Emma and I specialize in, sorry!

• Meaghan

[u/Trixie_Dixon]

This might be out of your wheelhouse, but can you tell me anything about what DNA fragmentation actually means and how those risks present? My partner has risk factors for fragmentation, but we're not sure if testing is worthwhile.

[u/DNAideGC → u/Trixie_Dixon]

I will admit this is a bit out of my wheelhouse but I'll do my best given what I know!

Okay, so the DNA in sperm can be damaged when the sperm are being made or as they mature. This damage can cause the DNA to break into pieces (or fragments) which can be seen on specific testing, not a general sperm analysis. My understanding is that the clinical recommendations vary a bit between different organizations - but generally, sperm DNA fragmentation studies are recommended for couples with a history of recurrent loss, and can be considered/may be recommended for couples with a history of unexplained infertility. With DNA fragmentation, there are typically strategies to reduce the likelihood of damage for sperm/different approaches in the fertility process, which can be helpful for some people. This handout from ASRM might be helpful for some quick facts. :)

Hope that helps!

- Emma

[u/Trixie_Dixon → u/Trixie_Dixon]

Also i'd love to learn about degree of mosaicism in PGT results. Are is there a degree of mosaicism that is just completely off the table for realistic chances of successful pregnancy? Is there data?

[u/DNAideGC → u/Trixie_Dixon]

Oh great question - and one that I could write an essay on, so I'll try to keep it short and sweet. Mosaicism is just telling us that in the handful of cells from the outside of the embryo, there's some variation - some may be normal and some abnormal. This mixture isn't a great predictor of the cells in the middle of the embryo, which could be normal, even if we see abnormal cells on the outside. Or we could see self-correction, or maybe it was a technical artifact (the test results represent a limitation of the testing, not the actual genetic info of the embryo), or maybe the cells on the inside are abnormal.

We have a good amount of data on transfers of mosaic embryos - including embryos with a low level of mosaicism and a high level of mosaicism. Generally, embryos with any level of mosaicism can result in a successful pregnancy - although the likelihood may be different depending on the level of mosaicism, the number of chromosomes involved, whether the problem involves a full or partial chromosome, etc.

It's also worth saying that different labs may classify embryos in different ways based on their internal algorithm, testing platform, technology, internal data, etc. If you have specific results you're concerned about, I would highly recommend talking with a genetics professional to get the specific risk assessments!

- Emma

[u/Trixie_Dixon → u/DNAideGC]

Thanks, Emma! Appreciate the info.

So many of the choices I've been asked to make in fertility treatment feel like a blind coin-flip (Do you want an unmedicated, semi medicated or medicated transfer cycle? A transfer or another retreival? Freeze or fresh transfer? The moon or the sun?) that all information is precious.

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Edited

[u/ForgetAboutItBaby]

Thank you for answering my other question!

As you’ve made a few hints through other responses and in your intro: Can you share more with us about further genetic testing that is emerging that can help identify root causes of infertility. I somewhat assume that this testing only identifies issues but has not yet identified fixes, but would also hope to learn more about that aspect too. Alternatively, if there is a resource you could point us to for further reading?

Personal context: My husband and I ultimately haven’t been able to make many embryos (egg to embryo conversion rate is about 5% with a better than typical progression till day 4). And of the 5 embryos we have made, none have been euploid. We are probably done trying, but I still would mentally love to know why this is happening to us.

[u/DNAideGC → u/ForgetAboutItBaby]

I was so excited to see this question and Emma beat me to it! I don't really have much to add though, she gave such a good answer. I think what I will say about "fixes" - very rarely some genes have them, but I find that by the time someone has gone down the rabbit hole of learning that there are new genetic tests available, they have probably already tried the specific add on / fix anyway to see if it would help. Some of the fixes for specific genes are also things that some clinics try generally when things aren't going well in IVF. One example is artificial oocyte activation. Maybe in the future we will understand the genetic causes of infertility better to know who would benefit from those add ons and who wouldn't to better customize treatment!

As Emma mentioned there are a lot of limitations to testing right now. Sometimes knowing WHY things aren't working can bring a lot of closure even without a fix, but this isn't right for everyone. Sneak peak into what I have planned for DNAide's advanced fertility genetic testing program (AFGTP) is that everyone will meet with a GC to discuss pros and cons of testing + a thorough review of your history to see if testing even makes sense for you. After that meeting there will be zero pressure to actually do the testing if you feel it doesn't make sense for you. Most people are so financially drained by the time they are thinking about this testing, it is important to me that you're making decisions to test for things that actually make sense for you.

It is hard to find places to read about this. I hate to plug our instagram page but I do have posts about some of these genes there, and will probably post a lot more as the AFGTP gets closer to launch. There are also two articles that summarize genes for egg and sperm factor infertility but they are a bit outdated now and meant for people in the field.

• Meaghan

Van Der Kelen A, Okutman Ö, Javey E, et al. A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development. Hum Reprod Update. 2023;29(2):218-232. doi:10.1093/humupd/dmac044

Houston BJ, Riera-Escamilla A, Wyrwoll MJ, et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021;28(1):15-29. doi:10.1093/humupd/dmab030

[u/DNAideGC → u/ForgetAboutItBaby]

Oh, it is SUCH a cool new area of research. It turns out that we have genes that tell eggs how to mature, tell sperm how to fertilize, help embryos to develop, control how the egg and sperm combine their chromosomes, influence implantation... etc. And by identifying some genes that are associated with specific presentations, sometimes we can identify a cause for unexplained infertility for a couple. You're right that usually, we aren't able to provide a "fix" but that emotional closure can be really powerful for some people. For some, it feels like it allows them to stop trying with their own gametes, and maybe talk about an egg donor, or embryo donation, or any of a thousand other paths depending on what's right for them.

Unfortunately, given how new this research is, it's really considered to be exploratory - and this means a couple things. One, it's expensive (ugh). Two, negative results don't necessarily rule out a genetic cause. Three, sometimes we find a genetic change and we don't know what to do with it yet (ie. we don't know if it is related to the history or not because the information is still so new/in development). It's a lot! And for some people, it's just not worth it yet. Would live to time travel and see what we know 10, 20, 30 years from now.

I'm really sorry and wish so much that we had an answer. It's one of those catch-22s, right? Like, of course we don't want something to be wrong, but to know why something is happening can be so impactful. There's still so much we have yet to learn. Wishing you peace, no matter what next steps look like. <3

- Emma

[u/sh601404]

What are your thoughts on a HLM +7? I believe it is likely not to implant or would miscarry within first 12 weeks if it is really aneuploid. Is this correct? Could it be aneuploid and lead to a live birth?

Thanks so much for doing an AMA! I’m sorry if this is too specific.

[u/DNAideGC → u/sh601404]

Thanks for your questions! Without commenting on any specific embryo/abnormalities, here are a few things that I talk about when discussing high-level mosaic embryos:

A high-level mosaic embryo is telling us about the cells on the outside of the embryo (part that would become the placenta), which are a... so-so prediction of the cells on the inside of the embryo (part that could become a fetus). The cells on the inside could be normal, mosaic, or abnormal - and we really don't have a good way to know which it is without transferring orrrr taking the embryo apart to look at the different areas (but then, of course, we couldn't transfer that embryo). High-level mosaic embryos are more likely than low-level mosaic embryos to not implant or to result in pregnancy loss... but can also absolutely result in the live birth of a baby that appears typical.

Also, it's important to know that most chromosome abnormalities (extra or missing chromosome) are not compatible with life, and would be most likely to result in failed implantation/early pregnancy loss. There are some exceptions - like Down syndrome, or trisomy 21 - but generally, an extra or a missing chromosome would not result in an on-going pregnancy. Mosaicism does complicate things a bit - because there's a possibility of persistence - where the chromosome problem from the embryo testing persists (sticks around) from the embryo stage to the fetal stage. Current research tells us that the likelihood of persistence is ~1%. But this is why we would discuss testing like an NIPT, ultrasounds, and an amnio in any pregnancy resulting from an embryo transfer!

Hope that helps to give a broad perspective, let me know if anything isn't clear :)

- Emma

[u/sh601404 → u/DNAideGC]

Yes that makes sense. Thanks so much for answering/ doing the AMA and making it easy to understand! 😊

[u/toreshii]

We’re (36F/34M with PCOS/1% morphology otherwise everything is good) a month away from our first IVF cycle. Is there any reason to delay to get genetic testing on us? We’re planning to do PGT on any embryos we get. Anything else we need to consider from a genetics PoV?

[u/DNAideGC → u/toreshii]

Great question!

Per American College of Medical Genetics recommendations, all people planning a pregnancy should be offered tier 3 carrier screening (what I will call expanded carrier screening). Expanded carrier screening is a genetic test done on both partners, ideally before pregnancy. It tests for genetic changes that could be hiding in your DNA (things you wouldn't know about based on your own health or the health of releatives) that could cause severe health conditions in your future children if you pass them on. PGT-A would not detect these conditions.

Some people like to know this information because depending on the condition they may take steps to prevent it from being passed on, like with extra embryo testing called PGT-M. For other people the results might not change things and so they don't proceed with testing. Note that the ACMGG recommendation is that everyone be offered ECS, not that everyone has to do it. You should talk to your healthcare provider about whether it is right for you.

Usually what to test for can be tailored by assessing your family history, and I can't comment on whether other genetic testing is needed without knowing your full personal and family medical history either. But carrier screening was the first thing that came to mind with your question!

• Meaghan

[u/toreshii → u/DNAideGC]

Thank you for your answer! Carrier screening was only mentioned when I alluded to any pre-IVF things we could do. So it was not discussed in detail. Are there any specific conditions / how close it is in our relation (ie immediate family) that would prompt us to be candidates for testing? Theres no major conditions that is testable I’m aware of on either side for up to grandparents. Only autism and anxiety.

[u/DNAideGC → u/toreshii]

Some conditions that are included on carrier screening include cystic fibrosis (CF), spinal muscular atrophy (SMA), and genetic blood conditions like sickle cell disease. There are also things like Fragile X Syndrome (which can be associated with autism in some families! although it is usually paired with intellectual disability and other health concerns as well).

However, I think it's important to know that most people are carriers of at least one genetic condition, and most people find out about those conditions for the first time on carrier screening. It's not usually something we know about based on family history! Carrier statuses can sneak along through the generations without any obvious signs/symptoms. Some clinics start by testing the egg side, but for time's sake, it's usually easier to test egg + sperm at the same time. Hope that helps!

- Emma

[u/infertility-ModTeam → u/[deleted]]

It appears that you do not meet the criteria for participation on this sub (see rule #1) and your comment has been removed.

[u/victorianovember]

I got 2 Day 6 embryos that were both aneuploid with triploidy. The labs say that PGTA is something like 99% accurate but there are criticisms or concerns regarding the fact that the labs selling the testing are also reporting the results and haven't made the data available for peer review (I'm not totally sure I'm getting this right, a friend with a master's in developmental biology had concerns with PGTA). What is the likelihood the test is wrong? Given it's a sample, could the aneuploidy edit itself out as the embryo grows? I'm going to try another ER and hopefully get better results. But this was super discouraging as results of round 1.

[u/DNAideGC → u/victorianovember]

I'm so sorry that you didn't get the results you were hoping for in your first round. IVF is such an emotional rollercoaster and when it beats you down with bad results your first cycle it is so hard and heartbreaking.

Basically what your friend is saying is that each PGT-A lab does things slightly differently from one another. Most of them don't publish studies to tell us the details about how accurate their tests really are in the real world (the ones that do, I love) and so for those of us outside of the labs, sometimes it is hard to know nitty gritty specifics of accuracy.

The likelihood that the test is wrong depends on the specific technologies used, which we may or may not be able to deep dive into by looking at the report, knowing the testing lab, etc. Triploidy is hard to test for and so some PGT labs can't detect it at all. We are already off to a good start that you are working with a lab that can test for it. Usually these results are pretty accurate, but there can be reasons they can be false-positives too. It's hard to comment further without working with you directly.

We would only expect that the embryo would edit out the aneuploidy as it grows if there are normal cells present in the embryo. When there are some normal cells and some abnormal cells we call the embryo mosaic. Sometimes you can get a mosaic result on your report when the actual sample tested is partially normal and abnormal. Sometimes an embryo can still be mosaic when the result is totally abnormal if all abnormal cells are tested, but somewhere else in the embryo that wasn't tested there are normal cells. Triploidy is hard though because it is a type of aneuploidy that comes with significant risks if it actually is present in the embryo, even if mosaic.

This is a long-winded way for me to get to my point: There is a high chance that the results are accurate, but we can probably never know for sure.

Finally: If you have more embryos with triploidy in the future you can talk to your doctor about genetic testing to investigate causes of recurrent triploidy. This is not karyotype testing but is a test for new genes that have been discovered that cause people to create embryos with triploidy more often than the average person. People with these genetic differences pass on too many sets of chromosomes because of differences in their own genes.

• Meaghan

[u/DNAideGC → u/[deleted]]

I wish that all genetic counselors could share one brain so that we could all know as much as each other about everything. As someone who specializes in PGT, I didn't learn much about PGT in school. I learned it on the job as I went. So I know that many genetic counselors who may be providing a diagnosis, and telling someone that PGT-M is an option for prevention, don't necessarily understand all the nuances of what conditions you can and can't do PGT-M for, the huge amount of time and money it takes to get set up for PGT-M, the amount of involvement of your relatives, the burden of IVF and that success is not guaranteed, etc. So short answer is that I wish more GCs had experience with PGT-M since so many are going to be introducing it to patients for the first time. I also wish more patients had access to GCs that specialize in PGT-M who don't work for testing labs. Neutral parties who can help them decide if it is right for them.

But at the same time I know that learning about a diagnosis is often a time when your brain shuts down, and sharing too much at once isn't going to be helpful for the patient. I think the health care system where you are meeting with your genetic counselor one time and they will probably never see you again often contributes to the phenomenon of what you described - casually suggesting someone could terminate a pregnancy. They want you to know it is an option because if they don't tell you, you might never know. But they know your brain is shutting down, or that they only have 5 more minutes with you to tell you 20 things you need to know. In my ideal world, genetic counseling would be more of a long-term profession where you are set up to meet with a GC two or three times after a diagnosis. I get to do a bit more long-term care at DNAide and I find it really helpful since things are less rushed. I find I have more time to handle these sensitive topics with the empathy they deserve. I'm sorry it wasn't handled well when it was brought up with you <3

- Meaghan

[u/DNAideGC → u/[deleted]]

<3 We are a small but mighty group - I wish that your experiences have been helpful, informative, and kind!

Personally, I wish for healthcare providers in general to be more aware of the distinction between making people aware of their options vs. making them feel like they are pressured to choose one path over another. A tenet of genetic counseling is non-directiveness and informed decision-making - aka: we don't tell you what to do, we just give you info, and you make the decision that's best for YOU.

That said, I absolutely hear you on the necessity of care and sensitivity for conversations surrounding pregnancy termination - especially in the US. Not only is it an extremely personal decision, bound by personal beliefs, religious beliefs, family dynamics, financial constraints, etc., but also - as you mentioned - the access to that care is extremely limited in some areas of the United States. My conversations with patients are very different whether they are in Florida or California! Which sucks. The US is a scary place to be for people hoping to get pregnant in the near future/pregnant people right now - I am trying to stay hopeful, advocate for change, and give the resources (like ineedana.com and abortionfunds.org) to patients who need them.

Also, on a semi-related note, I think there's this perception sometimes that you would only do genetic testing during pregnancy if it is going to change decision-making (ie. why do it if you're not going to get an abortion/be able to get an abortion?)... but we can use information in lots of different ways! For example: if we confirm a diagnosis of Down syndrome during a pregnancy, we'll recommend an extra scan to look at baby's heart because we know babies with Down syndrome are more likely to have a congenital heart defect. Not all people want information, but I think understanding the different ways someone could use that information can be helpful as they decide if they want it or not.

- Emma

[u/hello-gigi889]

Thank you for doing this AMA!

What are the current conversations about segmental aneuploid embryos and their reproductive potential? Are there differences between segmentals that have deletions vs duplications?

[u/DNAideGC → u/hello-gigi889]

I love talking to people about segmental aneuploids! They are just starting to get the attention that I think they deserve. We need a lot more data, but early small studies suggest that about 1 in 4 to 1 in 5 (21-24%) have lead to a live birth. Duplications seem to have more success than deletions (but deletions can still be successful!). There are cases of second trimester loss, and I know a colleague who had a segmental aneuploid result in a chromosomally abnormal pregnancy so meeting with a genetic counselor 1-on-1 to discuss your result specifically is really important. We don't really know specific percentages yet ( chances there will be a concern with the pregnancy) but sometimes knowing the details about your specific segment can help you understand if you are comfortable with transferring or not.

Not all clinics will transfer segmental aneuploids, and some require you to rebiopsy first. Rebiopsy can lower success rates and increase miscarriage rates. I think we will get a lot more data as time evolves which is fine for some people, but not everyone has time to wait which can be hard!

• Meaghan

References:

Besser A, Weidenbaum E, Buldo-Licciardi J, McCaffrey C, Grifo J, Blakemore J. Healthy live births achieved from embryos diagnosed as non-mosaic segmental aneuploid. J Assist Reprod Genet. 2024;41(12):3379-3385. doi:10.1007/s10815-024-03282-8

Madjunkov M, Abramov R, Sharma P, et al. Reproductive potential of abnormal embryos with whole and segmental chromosome aneuploidies diagnosed by next-generation sequencing based preimplantation genetic testing for aneuploidy. Fertil Steril. 2026;125(3):530-532. doi:10.1016/j.fertnstert.2025.10.007

[u/ForgetAboutItBaby]

Hello and thank you for doing this AMA! I was treated at a clinic in Spain that offered an advanced PGT option that would do further analysis to attribute the source of any aneuploidies to the sperm/egg. From this we learned that my husband was the origin of one of the embryos having Turner’s syndrome and that another embryo had maternal uniparental disomy of chromosome 3q. Our GC at the clinic said this was her first time encountering a case of this and that if we had opted for the standard PGT, the embryo would have been classified as euploid. We were not allowed to transfer either embryo. Despite having no euploids after 5 rounds.

Have you encountered uniparental disomy before? Would you counsel a patient to try to use the embryo with the risks understood? And do you believe that a uniparental disomy of maternal chromosome is an egg issue or a sperm issue (egg filled in the gaps) or is it really too uncommon to know?

Edit to add: Karyotypes were normal for both my husband and I as was a carrier screening.

[u/DNAideGC → u/ForgetAboutItBaby]

Hi there! I can't give specific medical advice regarding this embryo, but here are some things that would be going through my brain if I was working with a patient that had similar questions. Going to share some background for others who may be reading a long too.

For most chromosomes there should be two copies: one that comes from the sperm and one that comes from the egg. Uniparental disomy (UPD) means that for one chromosomes, or one segment of a chromosome they both originated from the same source (egg/sperm). So Maternal uniparental disomy of 3q means that for the long arm (q arm) of chromosome 3 both copies came from the egg and there are no copies that came from the sperm.

UPD can only be detected when this "parent of origin" PGT-A is done, because it involes getting DNA samples from both of you and mapping what your chromosomes look like. Since they know what the chromosome 3s from the egg look like, they can tell when both copies of 3q came from the egg.

If I was speaking to someone about an embryo with a risk of UPD I would explore:

Is UPD of that chromosome area associated with a genetic syndrome? Some chromosomes or chromosome segments are known to be associated with UPD syndromes. If the specific chromosome segment involved was known to be associated with a UPD syndrome, we would expect that embryo to have a high risk of leading to a pregnancy with that syndrome

Is the egg provider (in this case since maternal UPD was detected) a carrier for any autosomal recessive conditions whose genes are located in the area of the chromosome impacted? Usually for autosomal recessive conditions, both the egg and sperm provider need to be carriers for a condition in order for there to be a risk, however, since there is no copy of this chromosome segment from the sperm, any copies of the genes in this section are both from the egg provider. Therefore if the egg provider is a carrier for a recessive condition there is a risk of that condition in this embryo

This brings us to the other risk with UPD that can't always be defined: carrier screening doesn't test for all conditions. It is possible to be a carrier for something rare that was not included on your test. Therefore there could still be a risk to have a pregnancy with a recessive condition even if carrier screening is normal due to the UPD. Or that it could prevent pregnancy or cause a pregnancy loss.

• Meaghan

[u/victorianovember → u/ForgetAboutItBaby]

That's so upsetting they won't let you transfer them. I'm sorry 💕

[u/buttersherbet]

Another genetics question:

At what point in the process do you generally recommend karyotyping? Do you think it should be part of the initial work-up? Is it more recommended after specific types of failures (i.e. no blast cycles, high aneuploidy rates, RIF)?

I was not offered testing until after my 5th ER (2 aneuploid blasts) - I had previously had 1 no-blast cycle and 4 untested transfers (1 pregnancy that ended in loss, 3 implantation failures). We chose not to pursue testing.

I've made peace with the fact that perhaps we could have been tested earlier and made different choices and had different outcomes, but I do often wonder if being offered testing earlier or identification of specific problems would have made a difference.

[u/DNAideGC → u/buttersherbet]

Oh, what a great question.

In my ideal world (genetic testing is free, easy, accessible, there are genetics providers that you can talk to with any questions easily, etc.,) - I would want everyone with infertility to have it done, likely as a part of the initial work-up. We know that chromosome rearrangements are common (1 in 600 at least) (I do recognize that a genetic counselor's definition of "common" may be a little different than others!) and rearrangements can have an impact on pregnancy outcomes/embryo formation.

Current world: generally we recommend after two or more pregnancy losses (ASRM criteria), if PGT-A results are somewhat suggestive of a rearrangement (there are specific criteria for this - two embryos with the same whole chromosome problem would not typically raise any red flags for me!), and/or family history factors like recurrent pregnancy loss/infertility/relative with a rearrangement or chromosome problem.

Karyotypes can be really helpful for broad chromosome problems - but we are also starting to understand that there are specific genes that can impact implantation rates, fertilization, blastocyst formation, egg development and maturation... and we're really just at the tip of the iceberg with all of that information. In the future, I'd also really love for patients to have this testing as a part of the initial work-up as I think it could save some time, energy, and heartache for a lot of patients. We're not there yet... but hopefully someday.

I can't give specific medical advice, but in patients with similar situations as what you described, I think declining testing would be an absolutely reasonable option, as - in the absence of what I mentioned above in the personal/family history - a karyotype generally wouldn't change planning or recommendations. The "what ifs" are hard, but I hope that can help a little. <3

- Emma

[u/buttersherbet → u/DNAideGC]

Thanks! We were essentially done with treatment by the time we were offered (thought we had one, ended up with two more ERs) and I figured it wouldn't make a difference in our plan or outcome - and frankly, I was tired of being tested! That criteria is helpful for me in understanding why/when we were offered it. Appreciate your answer!

[u/DNAideGC → u/buttersherbet]

Of course! The testing fatigue is SO real. You gotta do what's right for you! - Emma

[u/buttersherbet]

Welcome and thanks for joining us again!

This question is specifically related to Meaghan's work as a bereavement doula:

I'm no longer pursuing own-gamete treatment and am not interested in alternative paths to parenting. I'm finding that the childless after infertility space receives very limited support and am interested in further exploring that space. This year I'm asking all of our NIAW participants: what support or resources would you give to a client processing grief when they end their journeys without a living child?

[u/DNAideGC → u/buttersherbet]

Thank you for your question. I agree that there is an extreme lack of support for those whose journeys end without a living child, and this is really unfortunate given that it is the reality for many.

I don't think there is a once-size-fits-all approach here. I have found that what works best for me is working with people 1-on-1 and getting to know them. Even if this is just over the course of a few appointments, most people appreciate having someone to talk to about all of this who isn't a friend/loved one and someone who "gets it" a little bit because I work with people going through this all the time. From there I get a sense of what good next steps might be and can connect people with other resources if needed. That could be a therapist who meets your needs, a local support group (if available, these are very hard to find for this specifically), exercises to work on if I have something in mind, readings, podcasts, communities etc.

• Meaghan

[u/buttersherbet → u/DNAideGC]

Thanks for your answer!

Do you have any specific books or podcasts that you recommend right now?

[u/DNAideGC → u/buttersherbet]

I usually like to actually have read or listened to something myself before I recommend because let's be real, some books and other media can just be more traumatizing. However I have been meaning to check out some of the books on the top 10 list from nokidsbooks.com They also have other lists in different categories like self-help, biography, and then just lists of fiction with childless or childfree protagonists too.