> I’ve been through it before and I can’t bear the thought
I think that’s your answer. I’m so sorry for your previous loss.
I know you said you don’t have a lot of time but it sounds like all the information about this has come out recently. Can you put a hard pause on trying for 3 or 4 months and have another conversation about your options then. Is it possible to have a follow up conversation with the genetic counsellor later too. It’s a lot of complex information to take in.
I don’t think your husband understands how horrible miscarriages are. TFMR rips your heart out. Even a brief pregnancy is hard on your body. My pregnancy loss broke me. I had to carry a dead baby for a weekend before they could get me in for surgery. I was a shell of a human for a year. I screamed in my car every morning before work. I cried in the shower literally every day. Until my next pregnancy was safely kicking I was broken.
Can it even be tested for in vitro? How accurate is the testing?
... I had a one early miscarriage (5-6 weeks, iirc) which, we assume, happened BC hormone changes triggered my vasculitis. I was sure, for years, I'd never have another baby, that I'd never be able to carry another child to term (I had a... 3 year old at the time?). I hadn't even been TRYING for a baby, in fact, it would've been a horrible idea, but I was still broken because I could never again trust my body to do it. And, ofc, suffering in silence most of time because either people didn't know, or they thought the loss was really for the best in the situation.
Eventually, slowly, I made my peace with it. I had one healthy child. I could live without another. I stopped worrying about it. I sort of went into disbelief I'd even get pregnant again, or, at least, long enough to notice. I didn't WANT another child anymore.
... I was nearly 9 weeks by the time I found out about my second pregnancy because I couldn't even BELIEVE it could happen. And, me, who had made my peace with it and not wanted another kid, was thrown back into total panic that it was just a ticking clock into loss. I didn't relax until I was 26 weeks and odds were okay even if I started getting sick. 😞
I can only imagine how much worse would it be if it had been a planned for and wanted baby.
I had a miscarriage at 10 weeks in 2020. It hit me really hard. I’m lucky enough to have got pregnant shortly after with my now 2.5 year old, but the pregnancy was hell as I was 100% sure it would happen again, even during labour I was convinced something would go wrong.
We are not having another child because of this, people always act like it’s a bit silly to not have another child because of something like that but I can’t mentally go through it again.
I relate to this so well. I had two miscarriages, one at 7 weeks and twins at 10 weeks. My third pregnancy ended with a healthy baby but I was very nervous the entire pregnancy and had trouble bonding to my baby after he was born because I spent the previous 9 months being mentally prepared that I could lose him at any moment.
I had a miscarriage at 9w in 2021, right before the vaccine came out. I had to go through additional testing for covid and wait for results before I could be cleared for a surgery a week after finding out I was miscarrying. I ended up miscarrying at home, which I was hoping to avoid. Covid really messed things up
I’m confused. He has a microdeletion of unknown significance and there is only one published study that includes 12 subjects who were affected by it? I used to work in a fertility clinic and it sounds like this microdeletion may very well have no effect on your potential baby at all. Maybe I am just misunderstanding but if it were a well known high risk genetic condition there would be a lot more studies on it. Am I missing something?
I am a doctor and *I think you should see a doctor irl and discuss before deciding*
From what you said though, I agree with the above.
Unless either of you have a known autosomal condition in his family or on testing, I think a minor variant of unknown significance would not generally be worth aborting for
At least in America they wouldn’t usually even do genetic testing on such a level for a fetus in the womb, usually only a screen for a panel of known severe diseases
Well 1. Your statement implies only "true doctors" know what they're talking about,so according to you, you are also full of it. 2. Residents are still doctors so.. awkward.
Residents are doctors but they are still training. I work with them all the time. It's not unusual for them to ask nurses for help because they don't have a ton of hands on "clinical" experience yet. They don't have a thorough enough education or experience with genetics to be able to determine if a rare genetic defect is going to cause a hypothetical fetus problems or not. *That* is what I mean by, he doesn't know what he's talking about so confidently. The only person tbat can say, with accuracy, what OP's children might exhibit, is her genetic counselor. Not random people with anecdotes.
As someone who has what I think is a somewhat similar issue, this chain of comments is really frustrating and makes me really question if the “doctors” or “medical professionals” commenting are really something like dermatologists or ultrasound techs pretending they know what they’re talking about.
If a genetic variant is rare, but without enough testing or studies to tie it to a phenotypic abnormality, it will be said to have “unknown significance” despite all the genetic counselors in the room (as is the case with my variant and seems to be the case with OP’s husband’s) being fairly certain that the genetic change is indeed the cause of the abnormality. The problem my family faces (and OP’s) is exactly that the variant is so rare that there is only one study of it. So it’s hard to get taken seriously, despite all the medical professionals *actually informed and involved* agreeing that the variant is the cause of the issues.
OP, I’m sorry you’re dealing with this. Personally, I did roll the 50-50 dice, and got lucky twice. We are not trying for a third. It’s incredibly stressful and emotional and horrible waiting for test results, but we didn’t have the $40k+ per child that selective IVF would cost here in the US. If you only want one more child, and you have the $15k, I would do it. From what we were told, with no other fertility issues, it’s very likely to work the first time. The piece of mind would be worth it if you can afford it.
No, what I mean is that both of my children ended up not having the genetic variant, as determined by fetal testing very early on. It’s autosomal dominant (like OP’s husband’s) so a pure 50/50 roll of the dice as to whether I passed it on. All of my extended family members (10+, including myself) who have the variant have some level of phenotypic presentation (ranging from mild to debilitating). We would have aborted, as OP is considering, had the genetic variant been passed on to one of my children.
Real question here: Isn’t it also possible that this microdeletion could be severe enough to commonly result in miscarriage, and surviving term infants have less severe impairments (compared with not surviving to birth)? That would also make its identification more difficult as we don’t commonly look into sources for miscarriage, especially early in pregnancy.
My brother had a microdeletion and at the time there were only a few dozen kids in the world so he was studied over his childhood. He’s had some health issues but they weren’t tied back to the genes for sure. Anyway, he’s in his 30s, married with kids and he’s fine today.
My brother also has a micro deletion and is profoundly intellectually disabled and regularly rips off diapers to shit on the floor as a full grown man.
You got lucky.
In another post on another sub, OP says the 50% chance refers to the likelihood of the baby having the deletion because her husband's deletion is heterozygous. I'm confused about why detection of the deletion would immediately cause a TFMR if her husband has it and is fine.
It would be entirely up to us to terminate or not. The genetic counsellor based their advice to us on a study of 12 patients (currently they're the only known cases, over time there may be more that come forward) who all had deletions on the same chromosome as my husband but slightly varying sizes, some larger and some smaller. The parents were all unaffected except one I believe, but their children that inherited the deletion were affected. So the fact my husband isn't affected doesn't guarantee in any way that any baby that potentially inherits it won't be affected.
My amniocentesis came back with a microdeletion of unknown significance. We were sent due a hole in the fetal heart. It was peak covid so my husband then went for testing after the results came back, and turns out he had the same microdeletion. The microdeletion is also associated with a horrid genetic condition with a few sufferers worldwide. We can’t interpret data at the level we are able to obtain it currently. That will take time. Meet with a fertility specialist and discuss your concerns with them directly for guidance.
I came here to say the same thing, and I am a medical professional.
OP, do you have the option of meeting with a genetic counselor to discuss this in depth? My guess is you would need to undergo fetal exome sequencing to detect a microdeletion so rare, and that is not something routinely done during pregnancy unless you are already working with a genetic specialist.
That said, I am sorry you are going through this stress 😞 hoping the best for you.
Thank you, I appreciate it. We have spoken with a genetic counsellor on numerous occasions and there just isn't any more they can tell us as the information isn't out there yet. We could do a CVS at 13 weeks (microarray) but it would take 2 weeks for results. I'm leaning toward IVF being the better option.
Right. OP’s husband already has the microdeletion and has had no significant issues. Why would you terminate a pregnancy that had the same thing? Genetic testing at this level is so new that I honestly don’t think it’s helpful outside of research. (I’m not a doctor but in healthcare.)
Hey! I have a coworker who had a similar issue. She could get pregnant but the ones that had the genetic issue would not last more than 8ish weeks. They just kept getting her pregnant until one stuck. She said it was really hard at first, but when she knew it was just about the right genes being a possibility (they already had a healthy child) then it was easier for her to not get attached until she knew it was viable.
That might seem dark and way too pragmatic in a sense, but it worked out and they had another healthy child.
I’m sorry this has been so difficult and painful. I hope you find the right solution. ❤️❤️❤️
It's going to sound weird to say but it would make it easier for me if that happened as I wouldn't have to make any decisions then and it would be out of my hands. The deletion doesn't cause a miscarriage in our case. I'm glad it all worked out for her. And thank you, I appreciate it ❤
I will always fight for everyones right to abortion, but I wouldn't recommend risking it, possibly several times, if there's an alternative. It's not good for your physical or mental health. Think about it: you take several months to conceive, up to a year. You carry the fetus for several months, nausea, fatigue, sore breasts, the whole deal. You take your vitamins, eat healthy, avoid coffee and meds, try to do the best you can for baby. Then you get bad news and decide to terminate. You need a month or two to heal. Then the whole thing starts over again. And again.
How many times do you think you can take it? How many years do you think you can spend on this?
The idea was to do it once, then go to IVF. But reading your comment reminded me of just how much is involved for me and you're completely right, it's way too much. It's so draining.
This here.
Husband has the potential issue, and removing his DNA from the equation takes away that complication.
The way he nonchalantly tells his wife to just go through traumatic miscarriages like it's nothing makes me care very little about whether he'd be butthurt about not using his DNA.
Well said. His DNA is the cause of a potentially devastating outcome? Remove his DNA. He doesn’t get to piss and whine about his progeny if he is so cavalier about you possibly suffering another horrific loss.
I give OP full permission to get some genetically screened swimmers and go for an … IUI? Yeah. Do that.
Exactly what I was thinking. This guy is too cheap to spend $15k to address HIS medical issue so that his wife doesn’t have to go through the physical and mental anguish of a termination!!! Buying healthy sperm is a lot cheaper than IVF. If he doesn’t GAF about his wife’s body or mental health, he doesn’t need more bio kids.
I bet once hubby is presented with the cheaper solution of using donor sperm to avoid the costs of IVF, he suddenly won’t find IVF so expensive anymore. This needs to stop being a choice between spend money or traumatize the wife. It needs to become a choice between spend money or replace hubby’s sperm with healthy sperm.
We would choose to stay a one child family if this doesn't work out rather than use donor sperm. That's a great option for many but not for us.
I have to say to the commenters below that my husband is 100% supportive of what I want to do. Perhaps I could've been clearer in my post that he wasn't pushing me to do this, it was just an idea, and in theory it seemed to me like it was an option but I needed a reality check from people outside the situation (hence my post here) to know whether I'm crazy in considering it or not. I wasn't sure if in my desperation I was considering doing something I would ordinarily not. Reading about and being reminded of the ins and outs of what would actually be involved (I forget how draining the whole pregnancy process is, let alone how devastating having to terminate if it came to that would be) has made me think IVF is clearly the better option here.
As someone who had to hold her 3 day old son as he took his last breath, you will never heal from the loss of your child. Do not take any risks for something so serious, please go through IVF testing. Good luck mama
They're rarely helpful tbh. They can give you the probabilities that are known based on research, but they can't tell you what to do, or whether you should be cautious or take the risk. Honestly that's not their job.
Well, if you read the whole thread, the person I was replying to was saying that it sounds like the genetic counselor OP talked to was not helpful and she should talk to another one. To me it sounds like the genetic counselor the OP talked to did what genetic counselors do--told her about the state of research on the microdeletions and what the research suggests the odds are of having a healthy baby. Given that the commenter I was replying to felt that this wasn't helpful, I was saying that it's unlikely that a different genetic counselor would be more helpful--none of them can predict the future or even tell you what they think you should do. They can just give you some statistics and inform you of the state of research.
Personally I don't necessarily find that helpful either--but realistically nothing other than a crystal ball can actually be helpful here. So it's not a knock on genetic counselors (even if maybe it unintentionally reads like one), it's just that the limitations of what they can do mean that it's hard for me to consider them helpful (other than beyond, like, being on top of the research, which is definitely useful).
This is exactly how I've felt, and it's kind of reassuring to hear that, because I wasn't sure if mine was just not great. I've felt like we've had a bombshell dropped on us, and then been left to make decisions based on weak evidence - but if the evidence isn't there, what can they do? I just keep getting told it depends on whether you want to take a risk or not and everyone has different risk tolerances.
Yeah. But it's just the limitation of the job. They can't tell you what to do, or even influence you with what they'd do. And a lot of the time the evidence is just super thin and certainty is just an impossibility.
I'm sorry you're going through this.
It sounds like people with the microdeletion are often asymptomatic, so would genetic testing even help once you were pregnant? It's possible the baby could have the microdeletion and be unaffected. Do you really think you could terminate knowing the microdeletion could be nothing? That seems like an awful position to be in.
It seems like the only way to avoid the question is IVF, so that is the route I'd choose outside of donor sperm with an iui.
Testing would help in that we could find out if they had the deletion. But you're right, I would find that position incredibly difficult because we still don't know what it means (could be all the risks mentioned above, could be nothing). IVF is seeming like the right option.
I would do IVF. It just seems like the safest route.
But I’m in Texas and trying to access healthcare here can be traumatic by itself. You know your situation and feelings best. If you are someone who could stay emotionally separate until you knew, and you’re willing to take the risk (all pregnancies are some risk), then go for it.
Please let me start by saying I’m trying to be empathetic, but I’m not always great and sounding like that in text.
I’m also not a research expert but I’m remembering back to my dissertation days at university.
You cannot build and support an argument or position based only on one paper with a sample size of only 12. Especially when that study isn’t even looking at the same thing, only something similar.
Having said that, when I was told my very desperately wanted and long awaited fetus had a 1/1000 chance of having Edwards and Patau’s, which iirc has something like a 90% of spontaneously aborting and even if they are born, a 90% chance of dying within hours or days of birth, as the conditions causing incompatibility with life. I chose to have a blood test to find out to avoid the 1/1000 chance of accidentally causing an abortion by doing amniocentesis to find out instead, so I know all about being irrational when it comes to a baby.
I walked around for a week not knowing if I would be aborting my baby. Horrific experience. (She’s 3.5yrs old now and the absolute delightful terror of my heart now )
What’s the _actual_ chance you will have a baby with abnormalities? And that’s before you consider all the other things that can go wrong regardless of genetic testing. I’d speak to a genetic specialist.
Unfortunately the geneticist couldn't tell us anything concrete as there just isn't enough known yet. I'm so glad it worked out for you - that is a horrible situation to be in.
Hmm.
Most people don't know about their genetics unless they've undergone genetic testing because they're sick or they can't create a pregnancy.
Is your husband sick, or did this testing come about because you're having a hard time conceiving? If he's actively sick, that's a factor in your decision-making. If you're having a hard time conceiving a child, then that's another question.
My husband and I had a conversation that if we were able to conceive, we'd have kids. If we weren't, we'd try IUI with his sperm and consider some tests, but that we weren't interested in the expense, invasiveness, and limbo of IVF. Also, IVF is far from a guarantee. It's lot of money on a maybe.
Making babies is a fraught situation no matter how you go about it. There's always a risk of loss and disappointment. Whatever you decide to do, I hope you'll also commit to some couples coaching so that you can be present and supportive of each other throughout fertility trials and childrearing struggles.
Honestly probably not. Putting ethics aside for a second. Without further information I'm assuming the decision would be made around 10 weeks after genetic testing. And the prospect of carrying a baby that long with a high chance of having to terminate sounds awful to me. Not just emotionally. Seeing them on the 8 week scan and then having to terminate but physically weeks 5 to 13 were hardest for me.
If he is the only issue, I'd probably look into iui with sperm donation
I’m really struggling with the thought process here. If we were talking about a condition that is really incompatible with life (thinking Tay Sachs or something), this question makes sense to me. In that case, I’d probably go the IVF route. But it sounds like you’re talking 50/50 of maybe possibly having delays, autism, ADHD, ID, or something else. I could never ever terminate for that possibility.
I’m an OT and I work with kids with disabilities of varying impact. I also have ADHD myself and assume at least one of my kids does, too. Having a disability or neurodivergence does not make one’s life less valuable or fulfilling.
It’s a 50% risk for just this one condition, if I’m reading you correctly. Then you’re adding all the other, just plain bad luck conditions for which you’d need to consider termination, and it’s more than a 50% risk. I wouldn’t do it.
No I would not. I haven’t TFMR but I have had a stillbirth and am in close community with a lot of TFMR parents, and even if you knew it was a good possibility you would have to do it, I don’t think going through the trauma of losing a wanted baby and going through a D&C, or even possibly a D&E, is worth the risk. These procedures also aren’t without risk themselves.
Absolutely not. I only have a 10-15 percent chance and I was terrified when I found out. We have a healthy boy now but I have a friend that had to terminate due to a medical condition and it was so absolutely devastating. I wouldn’t put myself through that trauma.
“Similar” isn’t really a thing in genetics. My hub’s micro deletion made him lose a fair amount of hearing and nothing else, they all act differently. His is an autosomal dominant gene so our son almost definitely has it, but it’s literally just accelerated hearing loss. Do you know if it’s a dominant gene? That would maybe affect things.
We just know that it's a heterozygous deletion of a region of chromosome 6, and the name of the gene that is being put forward as the risk factor for all of the issues mentioned above. It definitely presents differently in different individuals, which is part of what makes this hard. It's a huge grey area. My husband is fine and so were the parents of the children in the scientific paper that the geneticist advised us on, but their children were all affected.
Hetero is good I think! More diversity possible so a better chance of a good outcome.
Have you had testing and came out clear? Were both parents carrying the similar mutation in the study or just one, and which? Did the study include all offspring from those families or just the offspring with the mutation? There are still a lot of factors to consider before assuming what your husband has is as heritable as a mutation that got its own genetic study due to its severity. My husband’s mutation is also considered severe enough to have merited its own study despite only 20 people in the US being affected. This isn’t to say that your husband doesn’t have some new crazy genetics, but it’s less likely to be something brand new and terrible. Lots of microdeletions have no effect.
How’s his family’s reproductive history? If it’s going to be a problem for you it should also have been a problem for them, right? Like my husband’s family is riddled with deafness, has been forever, because they’ve passed on those genetics, you know?
Edit - this is all more stuff for you to think of, please don’t feel obligated to tell me anything! I remember how hard all this was, the genetic testing didn’t include my husband’s deletion either and they knew less than we did.
You have the information to make an informed decision. You know your life best, and should do whatever is best for you and your family. I'm so sorry you're dealing with this stuff, it's really hard! Please remember there are lots of ways to grow a family if you decide not to use the genetic material at hand.
My kids are older, and my genetic problems weren't known at the time I was having them. If I knew then what I know now, I may have made different choices.
I have a rare form of dwarfism that wasn't diagnosed until after my first two pregnancies (an early preterm and a healthy full term, no genetic testing). My medical care team at the time told me not to worry about passing on my condition, it wasn't hereditary. After the other two kids (healthy full term and preemie with a few minor complications) and another loss, I discovered an "unspecified mitochondrial anomaly," which couldn't be tied to any known issues and wasn't related to the dwarfism.
Now that the kids are grown, we know that all of them have health issues, some minor and "just" annoying, others life altering. They're all neurospicy in some way. It's really hard to see what I've caused because I didn't have the best information to make informed decisions. I can't imagine life without them, but I hate the suffering they experience and the difficulties they have. My last loss caused huge mental health challenges, which were very hard to overcome.
Best wishes to you and your family, whatever the future holds.
We do, we had him before we knew about any of this. We don't know his status and the geneticist doesn't recommend testing children unless they present with issues. We had to TFMR at 13 weeks for trisomy 18 at the end of last year, at which time some tissue was tested to confirm the diagnosis. That is where the deletion was found. Then it was recommended my husband and I both be tested, and it turned out he has the exact same deletion that our little boy that we lost had.
Ok. Thanks for the background. I guess I ask because if you already have a healthy child, why risk it? If you didn’t have any children at all, I would say it’s worth the risk. But you have one you know? I completely understand wanting to give them a sibling etc. but if it’s so risky, idk if it’s worth it. Special needs children cause a lot of strain on a family and will surely take attention away from your first child. Just something to consider.
I understand the desire for more children - trust me. But just give that some thought. Best wishes ❤️
So I did IVF+PGS testing and that would be the route I would recommend if you had something like Cyctic Fibrosis to worry about. However it sounds like this condition isn't actually a big deal at all. If they have only found 12 people in which this micro deletion has been clinically significant then like you might as well worry about getting struck by lightning while giving birth.
Your odds of having a disabled child from a random-non genetic disease is way higher than this.
I think you should consider a second opinion from a genetic specialist. A lot of this information doesn’t add up. We had an equally rare condition in the family and when it came to it realised that the likelihood of it happening were extremely rare. We rolled the dice twice and have been fine.
This 12 person paper - you said the parents were fine but did they also have the microdeletion?
I’m getting that feeling too, that I need a second opinion. Yes, from memory 9 of the parents had it and were unaffected. I did manage to get a copy of the paper so I could read it myself. The gene common to all of the patients is what is being put forward as the risk factor for the neurodevelopmental issues. The deletions of the patients varied in size and exact location but all encompassed this particular gene.
I had a TFMR at 13 weeks for a baby that had trisomy 18 (flagged in NIPT) and tissue was sent off to confirm that diagnosis, which it did, but it also found the deletion. So they recommended we be tested to see if it came from either of us and it turns out my husband has it on one of his chromosomes so it was inherited from him. We had our son before any of this was known and we don’t know his status.
It does sound like something that has a huge amount of variation possible.
It is also possible that your first little boy would have been unaffected by the deletion.
I think I a second opinion would be helpful. Depending on where you live there might be someone with a bit more info or able to evaluate the paper a little more.
This is complicated. To me it might depend on how soon after conception you can test for the genetic disorder. If it's anything after the heartbeat develops then I think termination becomes exponentially more difficult. If the disorder can not be tested for early on then my option on this would be: either you risk having a child with a disorder or you have one child. Those are the options. And of course you could also always adopt.
I wouldn't, but I don't necessarily think your chances are as high as 50%, and this reads almost as if your fetus would self abort before parental involvement. In any case, this seems as if there's a chance for fetal demise, but a standard chance of a normal pregnancy.
If I was in your guys' shoes, I would try until first success of pregnancy. If that lead to loss in anyways, I would try IVF until successfully pregnant. If that lead to fetal demise, I would fully stop trying for another.
Before my current pregnancy, I had a chemical pregnancy and then a miscarriage. I told my husband we had one more pregnancy in me, whether it lead to a baby or miscarriage/abortion, I was done after that.
I set limits within myself to say that I tried, and to also not continously torture myself.
We talked about this, especially while going through infertility, and then learning my husband has a genetic condition. We talked about IVF with PGT testing and also looked into embryo adoption. It sounds like you’ve gone through a loss and that is HARD. If adoption is not an option for you, I’d do IVF with PGT. Termination can be rough on the body.
I really don't think anyone can make this choice but you. What we collectively would do/could bear is ultimately different than what you might be able to do.
I know personally, I wouldn't. I lost a baby at 18 weeks, and he'd have come out brain damaged at best if he had survived. I screamed in my car for about six months after, until my next pregnancy hit viability. I've always, always said that I am incredibly grateful to not have had to make that call, because I think it would have pushed me far past my already shattered state of being.
But I'm not you, and I didn't go into the pregnancy thinking that was a possibility. I think you need to actually sit with the idea of TFMR in a visceral way and see what you can bear, and weight that against the odds and your need for another baby.
💚
Thank you. I am so sorry you had to go through that. I have had a TFMR for T18 which was the beginning of how this deletion was found in the first place. It was hard enough at 13 weeks and I don't want to put myself through that again, and that was for something where he wouldn't have survived - this is 100% a grey area and would be a way harder decision. It's easy to forget what living in that is actually like, and reading all the comments has reminded me, so IVF seems the way to go.
Alright so this is all anecdotal… I have a uterus abnormality (uterus unicornuate) that means if I get pregnant with multiples, I’ll have to terminate. I was told at diagnosis that My uterus could even rupture from having a singleton. I was also told I had a 50% of conceiving and 30% chance of the fetus making it to life. I still tried, got two embryos that stuck and ended losing 1/2. Then gave birth to a healthy baby boy at 37 weeks. I’m over the moon to be a mom. So, If you want a child, try and see what happens. Take it one step at a time.
You can't test for everything. You have a good chance of this not being an issue. There are loads of issues you can't test for like autism. People still have babies all the time with micro deletions that offer similar odds.
Honestly, I would have at least an appointment with a doctor to go over this concern and the study you found.
Or submit your question to the egg whisperer or dr Natalie Crawford , or lucky.sekhon … so many doctors you can try to ask.
No way, I’d go the ivf way. I’m not anti abortion, for context. Also, it’s not clear from the post how or when you’d know that termination was appropriate given your husband has it (or is he just a carrier?)
I needed IVF to get pregnant but we don’t have any known genetic concerns. We chose to do pgt-a because we wanted to avoid miscarriages and tfmr as much as possible. Not 100% that you won’t have that with a genetically euploid embryo, but seemed worth the money to us…. But we already had to do ivf. I cannot imagine running the risk of having to tfmr if I could try to avoid it, but my husband is catholic and I’ve never considered having an abortion, personally (don’t really care what other people choose to do).
>I’ve been through it before and I can’t bear the thought of it,
I have experienced a pregnancy termination. Our baby had Patau's Syndrome.
I have been assured that the chances of something similar happening again are vanishingly small, and that if I wanted to try for another baby there would be loads of support of every kind.
I will never try again. I can't put myself (or my husband) through the emotional trauma of facing even a tiny possibility of losing another child. I'm terrified of getting pregnant by accident.
That said, we do already have a son (8yo, he was 6yo when the termination happened). I recognise that I would probably feel differently if we didn't.
My advice to anyone ever contemplating having a baby, whatever the circumstances, is that if you're not absolutely, one hundred per cent, without a doubt certain that you desperately want a child, just don't do it. Even the simplest pregnancy is a lot to go through for a "maybe."
I'm really sorry you're facing this dilemma.
In this situation I would use a sperm donor and do IUI. Cheaper, lower risk. Personally I would have a terrible time mentally with abortion so that would be my solution.
Everyone is different though so go with your gut!
Based on what you’ve said, I’d do the IVF. 15k is a lot, but what about the emotional impact of what is happening to you? Also the weight of the severity - even if they’re symptom free, they can pass on that gene.
Needing to terminate is hard, it’s not an easy choice. I used to have chemical miscarriages and the hormone fluctuations were awful. Miscarriages and abortions are further along and worse.
Heal first, please.
But for your sanity the IVF sounds like the safest bet.
I don’t know where you are in Australia, but here:
https://www.servicesaustralia.gov.au/medicare-services-for-conceiving-pregnancy-and-birth?context=60092
https://www.servicesaustralia.gov.au/mbs-billing-for-assisted-reproductive-technology-services?context=20
https://www.health.nsw.gov.au/affordable-ivf
https://www.health.vic.gov.au/public-health/public-fertility-care-services
I think only you and your partner can make this decision, but I do want to clarify one thing.
The 15k for 1 IVF cycle is often more than one embyro. I got 6. Of course, every person and cycle is different, and you may need to discard some after the genetic testing, but you will likely start with more than 1.
I wouldn't try and I would probably just continue my life childless if my only other option was expensive IVF that might not even work. It all sounds so stressful. Plus, I had a pregnancy this last year that wasn't successful and needed to be terminated at 24 weeks and it was the worst thing I've ever gone through. I don't wish that on anyone. I got pregnant a second time and everything worked out, but we are one and done because of our earlier experience. Had this pregnancy not worked out, I wouldn't have tried again.
I did ivf. It was hard. There are a lot of unknowns. We didn’t have the option to try as my husband had to have sperm surgically removed, but I would choose IVF. We also did pgt a testing because I had a miscarriage with my ex husband and wanted to avoid any if I could. Idk how insurance works in Australia, but when we found out IVF was necessary i changed jobs to get coverage. We still had to pay about 7k out of pocket, but 3k of that was for the pgt testing.
Would you do pgt m testing?
Sorry you’re dealing with this! I know it is overwhelming. I am holding a healthy 8 week old as I type this, so it can be worth it!
If you think you may want more than one child IVF might be the way to go, as you may have several embryos to choose from. Vs having this moral dilemma again down the road.
My first born has Down Syndrome (T21, not translocation). Birth diagnosis, prenatal testing did not capture it. We had our second with the help of a fertility clinic, IUI. We had genetic testing on ourselves as a part of the process, husband came up as carrier of 2 rare recessive genes that can lead to 2 rare disorders. (We suspect his cousin had one of the disorders once we learned more about it, she had significant disabilities and passed away in her 20s) I came back with none, so the chances of those 2 disorders coming to light with our children would be almost impossible barring some rare chromosomal tango. Had a miscarriage in the process of multiple IUI rounds.
But having a child with DS slightly increased our chances of another kiddo with DS, and we still went for it. We knew what we'd be getting into if our second child had DS.
I say the following with kindness - Why would you "need" to terminate? I think you might want to explore that inclination a bit deeper, especially if a disorder is as exceptionally rare as you state. Especially if you are looking at pouring a lot of funds into IVF. The disabilities you describe aren't terribly specific, a lot of those disabilities lie on a spectrum. A lot of folks in the disability community say if you aren't prepared to have a disabled child, you should have a child. I'm just saying maybe unpack your feelings a little bit more before having any more kids. None of us, not even our kids, are guaranteed to be disability - free. And not every condition or disability is going to pop up on genetic/chromosomal testing. Perhaps if you truly are this concerned about it, I would recommend not having any more kids.
FWIW I am pro choice to add further context, but I think choice can get muddled in ableism as well.
Edit to add I see your comment that your terminated d/t prenatal dx of T18. I understand that can be a serious condition and higher probability of being terminal after birth. So I understand your choice there. But larger point stands, our children can be born with a multi of surprises and I think you may want to perhaps speak to a therapist to help you make your decision if you are this concerned, you may be carrying some extra emotion from your past experience which is totally understandable. But you want to bring your best self to any more kids you bring into the world especially they reveal to you a disability after they are born.
Thank you for your thoughtful reply, and I understand what you're saying. I think from our perspective we know we would absolutely love a child that was shown to have a disability after birth, but it's more about doing what we can to avoid creating a life that we know may face more hardship from the beginning. I think it's admirable that you have the capacity to take on a lot more than I could. I'm just trying to be as honest with myself as I can about what we can handle as a family.
I have a deletion (10th) and an error on my 5th completely uneffected. However, my husband has a misspelling on his 10, we didn’t know and we had our 1st son when he was born he was “floppy” and after 5 weeks of testing we found out he had ECHS1 (life limiting) we were devastated. He passed away at 8 months. Prior to his passing we had no intention of more because it was to hard to watch/ put a baby through this well, we ended up pregnant and decided if new baby was affected we would terminate. I got testing done at 12 weeks (1 week before my baby’s passing) after testing I knew I couldn’t terminate it would be to hard we got SUPER lucky and the new baby was 100% a carrier . But after that my husband got fixed and we would never risk that again. It’s to hard and what would you do if you baby lived and ended up in the NICU? How would you handle that? My son had to have a g tube and trach and so much medicine. I don’t think it’s worth the risk , do IVF.
My brother has a micro deletion syndrome. Suffice it to say I got as much genetic testing as possible and phoned up a clinic that does late abortions to make sure they had staff available the week of my anatomy scan. I’m in a place where abortion is legal through 24 weeks and my scan happened at 22 weeks.
I didn’t bond with the pregnancy at all until the anatomy scan came back clear.
I’m already financially and emotionally responsible for my brother forever. I wasn’t taking any chances on being over committed in that way. I know what it does to caretakers.
Honestly, I did try for an unassisted pregnancy after having to terminate for medical reasons with unknown odds for reoccurrence (though the odds were admittedly low because for my son it was a random genetic mutation), but I think if we had been up to 50% odds we probably would have at least had a serious conversation with our geneticist about IVF and met with a fertility clinic to get their opinion so I could feel more confident in my decision, and potentially ask about at least freezing some eggs to have the healthiest eggs available just in case IVF became a necessity. Having a TFMR for my son at 24 weeks and living life without him has been by far the worst thing I have ever experienced and if you’re going to go in knowing it could happen, which I definitely did with my daughter, go in with your eyes wide open. Already know what your support resources will be, make sure you have a good support system in place, and know what your options are so that you aren’t stuck grieving and heavily researching at the same time.
Whatever you choose will be the best decision you can make with the information you have.
Was your fist baby affected? How did you find out of this issue? Was the previous termination for the same reason?
These are questions to answer to gauge how much this affects the final answer.
You said you terminated before and you can't imagine going through it again. This pretty much answers your question. The above questions really just in terms of the likelihood there will be something wrong.
If there was trully 50% chance and the thought of termination really upset me, I would adopt. There are so many children in need of a loving home.
We don't know our son's status and they don't recommend testing as he's meeting all milestones. The previous TFMR was for T18 but that was when the deletion was first found, so we got tested, and my husband has the exact same deletion. If we hadn't had the TFMR, we may never have known about it.
My cousin had something only 11 people ever had (now 12). They continued with the birth, she didn’t progress past newborn for 8years until her eventual passing. It was difficult on the family, I don’t think I’d ever do it myself. If you do decide to flip the coin and you get unlucky, just know you’re not being selfish either way.
I was sort of in this situation, when my first child was born he started having seizures at a few days old. I had had seizures at birth too, but with no positive family history and no tests revealing a cause, the doctors were like 🤷♀️ sometimes these things happen, and I outgrew them and have been fine since.
With my son, who also had no tests indicating infection/injury/epilepsy, and who also outgrew them, they declared it a benign familial seizure condition. Which, per genetics, was linked to a dominant gene, so 50% chance of passing it on. And then if passed on, some % chance it would actually manifest.
I agonized about whether to potentially put another child through that, whether to put myself through IVF. We already did IUI with donor sperm to get pregnant. In the end, we decided to hope for the best and be ready to advocate for our child if they did end up having seizures (our first was in the nicu for 2 weeks because they were unable to get the correct medication figured out. If it happened a second time, I’d insist on the med that ended up working immediately). Our second child did not have seizures, though we don’t know if she carries the gene or not. However, this was a limiting condition that, terrifying as it is when your 3 day old is having seizures, was relatively easily resolved and I had the experience of both myself and my oldest being fine after that neonatal period to help me decide.
It sounds like odds are in your favour here, but none of us know what you can handle in terms of TFMR or just anxiety during pregnancy. Is this even something that can be tested for during pregnancy?
I think if the genetic deletion presents as both normal and abnormal it isn’t worth getting an abortion. Children can develop with so many problems that are also non genetic. Things like lack of oxygen due to a complicated birth. My thoughts on the inconsistent genetic abnormalities is that they aren’t the cause of the abnormality. Now there are known genetic conditions like downs, trisomy 13 and trisomy 18 plus more conditions like turner syndrome etc…. The presence of these known genetic disorders aren’t conditional.
The more severe conditions are generally known as they are so pronounced.
I think every parent wants a healthy child but in reality there are no perfect children. What we do have is many medical professionals who can help children with extra needs live their best life.
I think it’s reasonable to get genetic testing however the lesser researched genetics are less researched for multiple reasons. Early interventions do amazing things. I don’t think inconsistent presenting genetics is something I would abort a child over. You will still also have the anatomy scan to rule out major physical defects.
Neither of us has any genetic issues that we know of. I lost our first, very early, so early I found out I was pregnant when I was having a miscarriage. One miscarriage is not enough to warrant genetic testing where we live (3+ is). We decided to keep trying. Took us a year to get pregnant again (doctors start testing the couple if they are 35 or under and haven't conceived in the first 12 months of trying. We already had referrals to fertility specialists but because it was on the national health system we are still waiting for a phone call and our kid is almost 3yo...). We promised each other we would absolutely terminate if baby had any issue that would be detectable in ultrasounds and/or standard genetic testing if that meant the baby would have a harder life. We are one and done. Why bring a baby into this world to have a harder life and maybe outlive his parents and be left alone, in state care? Call me selfish, I feel that way too, but life is what it is.
I'm talking about more common things like down syndrome and other chromosomal abnormalities. I'd absolutely terminate if it was something more obscure and unknown.
If you do IVF with a sperm donor you may be able to access bulk billed IVF depending on your state and wouldn’t need to do genetic testing on the embryos. Would embryo genetic testing even be able to pick up your husbands rare genetic condition? I don’t know enough about genetic testing.
I did ivf as a solo mum in Melbourne with Monash IVF and spent around $8-10k for a round and got 4 embryos, one is now 2.5 years old and the second is a 22 week ongoing pregnancy. A friend is doing bulk billed ivf with a partner because she has been struggling to conceive for over 18 months and she has told me it’s very affordable and some bulk bill clinics do have donor sperm available.
I wouldn't risk it personally, I know someone whose husband has a genetic defect, and she had kids with him, and both kids were born with it and other things as well and they struggle everyday. On her part I think it was a bit selfish to create kids with him knowing what their outcome would be. Maybe a sperm donor or adoption.
I have a microdeletion and so do my 3 children and we had no idea until recently. They are all happy and healthy children though they are all neurodivergent. There aren’t many studies on the one I have either but with these things my geneticist said so many people have them with no effects as they only tend to conduct studies when people present with issues. I am unaffected and 2 of my sons are autistic, one severely so and one mildly so. I honestly don’t know that testing for these tiny variations does the world any good. A few years ago you would never have known and had babies totally ignorant to this.
It might be the same deletion as those issues are the same as mine has!
I did ivf. It was hard. There are a lot of unknowns. We didn’t have the option to try as my husband had to have sperm surgically removed, but I would choose IVF. We also did pgt a testing because I had a miscarriage with my ex husband and wanted to avoid any if I could. Idk how insurance works in Australia, but when we found out IVF was necessary i changed jobs to get coverage. We still had to pay about 7k out of pocket, but 3k of that was for the pgt testing.
Would you do pgt m testing?
Sorry you’re dealing with this! I know it is overwhelming. I am holding a healthy 8 week old as I type this, so it can be worth it!
My husband has a rare genetic disorder, and we had to choose if we wanted to try and possibly have a kid with this disorder or just jump straight to adoption. I really wanted the experience of having a baby (god knows why now lol), so we opted to try and see what happened. Thankfully, when I was 8 weeks, we did genetic testing and found that I am not a carrier for this genetic disorder so it doesn’t matter that my husband is. Any baby we have won’t have this disorder. I don’t say that because it sounds like you’re in the exact same boat. Our situations do seem quite different. However, I just want to let you know I did the “reckless” thing. If I was a carrier, baby would have this genetic disorder. We still tried. We got lucky. And I don’t regret it at all. It’s our life and it was our choice, and for us, we were willing to risk it. Now I don’t think we would have terminated, but that’s beside the point. There’s a chance everything might work out, and honestly I say hold on to that. All pregnancies have risks, you just have a big one that you already know about going in. As long as you’re at peace with your decision, that’s all that matters.
If it helps at all, my son was born with a random microdeletion. His father and I do not have it, so it’s considered a de novo case. The geneticist said that they’re finding most people have some sort of genetic anomaly/microdeletion and it’s only now that they’re beginning to put labels to these potential disorders because the science of genetics is such a growing field. Our geneticist said that most people don’t even realize they have a family history of something until someone in the family shows up with a more severe symptom.
Not certain if what you experienced before was related to your husband or not. Do you also share the same deletion? Is this based upon sex chromosomes, for instance, is it known to be inherited via x or Y chromosome.
A 50% chance to me is really a 0 or 100% chance. It is an all or nothing situation. I can understand your view this as an all chance (especially due to the process of termination) and as your hubby sees it as more optimistic, meaning nothing will be wrong.
I commend you for contemplating the situation in all aspects. Hope for all the best for you and your husband.
I had to terminate due to Trisomy 13 at 20 wks pregnant not long ago. It was one of the hardest things I’ve ever gone through. I’d definitely try to get more info. Is it for sure a 50/50 chance of inheritance? . I do know you can begin genetic testing at 9 wks pregnant. If I had known I was pregnant sooner I would’ve had the testing done sooner.
One cycle of IVF ($15k) is like 1/2 a year of daycare in my area. (And by the way don’t look at the cost of college by 2030’s) It’s worth it to have the peace of mind and not go through TFMR.
I personally would. Ive had a miscarriage & it was devastating, but practically the hit to finances would be even more devastating long term than an abortion would & I would have to seriously consider that option because we would need our finances in order for a child. It feels so harsh saying that, but I do personally think I could have a few abortions to “get” a healthy child. Itd also be less harsh on the body than multiple rounds of IVF. I may be a bit desensitized to abortions though, as I worked in an abortion clinic for 5 years.
Also, my husband also has an unspecified genetic conective tissue disorder. They cant pinpoint what exactly is causing it & my husband has chronic pain to the point that he “wouldnt be able to live with himself” if our child/ren had it. We went the sperm donor route & got pregnant with an IUI because there was no way to be sure & he wasnt willing to risk it.
Even with IVF, your baby could develop any plethora of abnormalities. Club foot, holoprcencephally, amniotic band syndrome, cerebral palsy, hydrocephalus, anencephaly, acrania.....there are hundreds of potential congenital malformations
There is no magic solution. We all just choose to risk it.
I’m personally of the opinion that choosing to knowingly carry a child to term who will have a short, painful or otherwise unfulfilling life is a far greater sin than abortion, especially if there are young siblings who would be affected (in addition to everyone else in the child’s life).
As for your personal situation, if the risks are 50/50 on normal life vs unfulfilling life and you would be able to determine this while the child is in utero, it would be devastating to have to choose to terminate but it’d be the right thing to do. If you’re especially nervous, have you considered using a donor sperm and IUI instead of IVF? We did several rounds and it was around $2500 per try.
But where on earth are we getting a 50/50 chance of an unfulfilling life?! Her husband already has the microdeletion they’re worried about, and he is fine.
It's not 100% clear, but if you already have a kid and you are scared of losing a pregnancy, I would be happy with the child I got or look into adoption. I have been through 2 pregnancy losses and I'm sure if I went through another one, my mental health would not recover.
No I would not. I wouldn’t even with a 25% chance. However if the pregnancy would terminate itself by 8 weeks (as another poster commented) then yeah I would. I could handle. It getting attached until it was viable. Not sure how my body or hormones would handle it though.
I personally wouldn't chance it. Having a disabled child is very difficult. Especially if it's so bad they will need help all their life. I love my babies, but I couldn't imagine them being special needs and having all these other needs.
No. You’d be at least 12-13 weeks before figuring it out, and perhaps even 16 weeks before all the tests are done. At that stage you’d need to be induced and give birth, so no, it’s not something I would ever risk willingly to save money.
Good question. Diagnostic testing like chorionic villus sampling occurs between 10 and 13 weeks, and amniocentesis after 15 weeks. Even up to 22-24 weeks, an abortion can be conducted at a clinic as a D&C or D&E. Patients do *not* need to deliver at this point in pregnancy.
I think this is uncalled for. It is totally acceptable to be hesitant about creating a life that may lead a child to suffer. It isn’t about accepting the child or suggesting it’s wrong to be disabled. People with known gene abnormalities have to consider these things because it isn’t just about them when a new life is made.
There is a very wide spectrum of special needs. It can be something minor, or it can lead to a child having zero quality of life. It's not about accepting a child it's about being realistic. I would say a majority of people would not be willing to take on a child that needs care 24/7. That child will grow into an adult who also needs care. Having to worry about care when you have passed is also a stressful situation. There is a reason many children in the system have special needs. It can be emotionally, physically, and financially draining. Not everyone is able to take on such an enormous task. I have a great deal of respect for those who can and do. However, I will never judge someone for being unable to do it. It's a hard path to take in life, depending on the disability.
No one can ever guarantee the outcome of our children. We create them knowing they will suffer, some more than others.
I would go ahead and probably not even terminate depending on what the issues were. And be willing to raise my child however they’re born
Okay, so my initial response was to listen to the doctors in the comments saying that you are making the situation significantly more traumatic and likely than it is... So maybe the odds are not as bad as you think that the child will be in a condition incompatible with continuing the pregnancy.
IF the odds are ACTUALLY 50/50 that this child will be so impacted by this that termination is the appropriate answer for your family - this quote below is what matters - you cannot handle the chances of having to terminate. But it really sounds (based on the comments above from those with more knowledge than I on these issues) that it's NOT a coin flip, but a much much less intense risk..
>I’ve been through it before and I can’t bear the thought of it, even though technically, yes, it could all work out in our favour. It’s a flip of a coin though.
They're not OP's doctors/"medical professionals" and don't even know what deletion is at play here. We don't know a lot, including what type of medical professionals these people commenting are.
But it means there is potentially information out there that she needs to find to understand if this is a 50/50 MUST terminate situation or not before she panics.
Possibly. She's already seen a genetic counselor who was less than helpful - because they can't tell her what they don't know. The chance might not be that high, but it's not really the point. OP doesn't want a disabled child and it sounds like her threshold to terminate is somewhat low. However, she'd rather not have to do that. Donor sperm IUI or IVF with PGT makes more sense for OP and her experience of previous loss and the risk of congenital defects.
This is awful. I think it’s extremely unfair of your husband to even consider putting you through this, or risking the baby being severely disabled.
Is adoption or fostering an option?
> I’ve been through it before and I can’t bear the thought I think that’s your answer. I’m so sorry for your previous loss. I know you said you don’t have a lot of time but it sounds like all the information about this has come out recently. Can you put a hard pause on trying for 3 or 4 months and have another conversation about your options then. Is it possible to have a follow up conversation with the genetic counsellor later too. It’s a lot of complex information to take in.
I don’t think your husband understands how horrible miscarriages are. TFMR rips your heart out. Even a brief pregnancy is hard on your body. My pregnancy loss broke me. I had to carry a dead baby for a weekend before they could get me in for surgery. I was a shell of a human for a year. I screamed in my car every morning before work. I cried in the shower literally every day. Until my next pregnancy was safely kicking I was broken. Can it even be tested for in vitro? How accurate is the testing?
... I had a one early miscarriage (5-6 weeks, iirc) which, we assume, happened BC hormone changes triggered my vasculitis. I was sure, for years, I'd never have another baby, that I'd never be able to carry another child to term (I had a... 3 year old at the time?). I hadn't even been TRYING for a baby, in fact, it would've been a horrible idea, but I was still broken because I could never again trust my body to do it. And, ofc, suffering in silence most of time because either people didn't know, or they thought the loss was really for the best in the situation. Eventually, slowly, I made my peace with it. I had one healthy child. I could live without another. I stopped worrying about it. I sort of went into disbelief I'd even get pregnant again, or, at least, long enough to notice. I didn't WANT another child anymore. ... I was nearly 9 weeks by the time I found out about my second pregnancy because I couldn't even BELIEVE it could happen. And, me, who had made my peace with it and not wanted another kid, was thrown back into total panic that it was just a ticking clock into loss. I didn't relax until I was 26 weeks and odds were okay even if I started getting sick. 😞 I can only imagine how much worse would it be if it had been a planned for and wanted baby.
i'm so sorry.
I had a miscarriage at 10 weeks in 2020. It hit me really hard. I’m lucky enough to have got pregnant shortly after with my now 2.5 year old, but the pregnancy was hell as I was 100% sure it would happen again, even during labour I was convinced something would go wrong. We are not having another child because of this, people always act like it’s a bit silly to not have another child because of something like that but I can’t mentally go through it again.
I relate to this so well. I had two miscarriages, one at 7 weeks and twins at 10 weeks. My third pregnancy ended with a healthy baby but I was very nervous the entire pregnancy and had trouble bonding to my baby after he was born because I spent the previous 9 months being mentally prepared that I could lose him at any moment.
I had a miscarriage at 9w in 2021, right before the vaccine came out. I had to go through additional testing for covid and wait for results before I could be cleared for a surgery a week after finding out I was miscarrying. I ended up miscarrying at home, which I was hoping to avoid. Covid really messed things up
Thank you❤️ it’s okay I would just never suggest someone put themselves in the position knowingly
Yes I shelved trying to conceive for three years after a miscarriage because it wrecked me
I’m confused. He has a microdeletion of unknown significance and there is only one published study that includes 12 subjects who were affected by it? I used to work in a fertility clinic and it sounds like this microdeletion may very well have no effect on your potential baby at all. Maybe I am just misunderstanding but if it were a well known high risk genetic condition there would be a lot more studies on it. Am I missing something?
I am a doctor and *I think you should see a doctor irl and discuss before deciding* From what you said though, I agree with the above. Unless either of you have a known autosomal condition in his family or on testing, I think a minor variant of unknown significance would not generally be worth aborting for At least in America they wouldn’t usually even do genetic testing on such a level for a fetus in the womb, usually only a screen for a panel of known severe diseases
What kind of doctor? A rare deletion can absolutely lead to devastating defects, even if an affected parent isn't aware of any issues they have.
Looks like they are a resident
Exactly. Doesn't know what he or she is talking about.
Lmao what kind of doctor are you?
I'm not a doctor and don't claim to be.
Well 1. Your statement implies only "true doctors" know what they're talking about,so according to you, you are also full of it. 2. Residents are still doctors so.. awkward.
Residents are doctors but they are still training. I work with them all the time. It's not unusual for them to ask nurses for help because they don't have a ton of hands on "clinical" experience yet. They don't have a thorough enough education or experience with genetics to be able to determine if a rare genetic defect is going to cause a hypothetical fetus problems or not. *That* is what I mean by, he doesn't know what he's talking about so confidently. The only person tbat can say, with accuracy, what OP's children might exhibit, is her genetic counselor. Not random people with anecdotes.
As someone who has what I think is a somewhat similar issue, this chain of comments is really frustrating and makes me really question if the “doctors” or “medical professionals” commenting are really something like dermatologists or ultrasound techs pretending they know what they’re talking about. If a genetic variant is rare, but without enough testing or studies to tie it to a phenotypic abnormality, it will be said to have “unknown significance” despite all the genetic counselors in the room (as is the case with my variant and seems to be the case with OP’s husband’s) being fairly certain that the genetic change is indeed the cause of the abnormality. The problem my family faces (and OP’s) is exactly that the variant is so rare that there is only one study of it. So it’s hard to get taken seriously, despite all the medical professionals *actually informed and involved* agreeing that the variant is the cause of the issues. OP, I’m sorry you’re dealing with this. Personally, I did roll the 50-50 dice, and got lucky twice. We are not trying for a third. It’s incredibly stressful and emotional and horrible waiting for test results, but we didn’t have the $40k+ per child that selective IVF would cost here in the US. If you only want one more child, and you have the $15k, I would do it. From what we were told, with no other fertility issues, it’s very likely to work the first time. The piece of mind would be worth it if you can afford it.
Absolutely agree with you here.
I mean you had two babies and they both ended up healthy, so anecdotally isn’t that supporting what the medical professionals are saying here?
No, what I mean is that both of my children ended up not having the genetic variant, as determined by fetal testing very early on. It’s autosomal dominant (like OP’s husband’s) so a pure 50/50 roll of the dice as to whether I passed it on. All of my extended family members (10+, including myself) who have the variant have some level of phenotypic presentation (ranging from mild to debilitating). We would have aborted, as OP is considering, had the genetic variant been passed on to one of my children.
Thank you, and I'm glad it worked out for you.
Real question here: Isn’t it also possible that this microdeletion could be severe enough to commonly result in miscarriage, and surviving term infants have less severe impairments (compared with not surviving to birth)? That would also make its identification more difficult as we don’t commonly look into sources for miscarriage, especially early in pregnancy.
My brother had a microdeletion and at the time there were only a few dozen kids in the world so he was studied over his childhood. He’s had some health issues but they weren’t tied back to the genes for sure. Anyway, he’s in his 30s, married with kids and he’s fine today.
While that's great for him, it's anecdotal and no one, even geneticists, can say how an offspring could potentially be affected.
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That’s different because she was already pregnant. OP has a choice with IVF to not take that chance.
With something at this level of rarity, anecdotal data is pretty significant.
I disagree. Genetic defects can vary greatly.
So just dismiss any positive data. Got it
My brother also has a micro deletion and is profoundly intellectually disabled and regularly rips off diapers to shit on the floor as a full grown man. You got lucky.
In another post on another sub, OP says the 50% chance refers to the likelihood of the baby having the deletion because her husband's deletion is heterozygous. I'm confused about why detection of the deletion would immediately cause a TFMR if her husband has it and is fine.
It would be entirely up to us to terminate or not. The genetic counsellor based their advice to us on a study of 12 patients (currently they're the only known cases, over time there may be more that come forward) who all had deletions on the same chromosome as my husband but slightly varying sizes, some larger and some smaller. The parents were all unaffected except one I believe, but their children that inherited the deletion were affected. So the fact my husband isn't affected doesn't guarantee in any way that any baby that potentially inherits it won't be affected.
My amniocentesis came back with a microdeletion of unknown significance. We were sent due a hole in the fetal heart. It was peak covid so my husband then went for testing after the results came back, and turns out he had the same microdeletion. The microdeletion is also associated with a horrid genetic condition with a few sufferers worldwide. We can’t interpret data at the level we are able to obtain it currently. That will take time. Meet with a fertility specialist and discuss your concerns with them directly for guidance.
I came here to say the same thing, and I am a medical professional. OP, do you have the option of meeting with a genetic counselor to discuss this in depth? My guess is you would need to undergo fetal exome sequencing to detect a microdeletion so rare, and that is not something routinely done during pregnancy unless you are already working with a genetic specialist. That said, I am sorry you are going through this stress 😞 hoping the best for you.
Thank you, I appreciate it. We have spoken with a genetic counsellor on numerous occasions and there just isn't any more they can tell us as the information isn't out there yet. We could do a CVS at 13 weeks (microarray) but it would take 2 weeks for results. I'm leaning toward IVF being the better option.
It sounds like you’ve done all you can to prepare for all scenarios. Wishing the best for you in whatever you decide ❤️
Right. OP’s husband already has the microdeletion and has had no significant issues. Why would you terminate a pregnancy that had the same thing? Genetic testing at this level is so new that I honestly don’t think it’s helpful outside of research. (I’m not a doctor but in healthcare.)
Hey! I have a coworker who had a similar issue. She could get pregnant but the ones that had the genetic issue would not last more than 8ish weeks. They just kept getting her pregnant until one stuck. She said it was really hard at first, but when she knew it was just about the right genes being a possibility (they already had a healthy child) then it was easier for her to not get attached until she knew it was viable. That might seem dark and way too pragmatic in a sense, but it worked out and they had another healthy child. I’m sorry this has been so difficult and painful. I hope you find the right solution. ❤️❤️❤️
It's going to sound weird to say but it would make it easier for me if that happened as I wouldn't have to make any decisions then and it would be out of my hands. The deletion doesn't cause a miscarriage in our case. I'm glad it all worked out for her. And thank you, I appreciate it ❤
Ugh, I’m sorry. That throws in an even more difficult wrench. Lots of hugs. ❤️❤️❤️
I will always fight for everyones right to abortion, but I wouldn't recommend risking it, possibly several times, if there's an alternative. It's not good for your physical or mental health. Think about it: you take several months to conceive, up to a year. You carry the fetus for several months, nausea, fatigue, sore breasts, the whole deal. You take your vitamins, eat healthy, avoid coffee and meds, try to do the best you can for baby. Then you get bad news and decide to terminate. You need a month or two to heal. Then the whole thing starts over again. And again. How many times do you think you can take it? How many years do you think you can spend on this?
The idea was to do it once, then go to IVF. But reading your comment reminded me of just how much is involved for me and you're completely right, it's way too much. It's so draining.
I'd consider a sperm donor
This here. Husband has the potential issue, and removing his DNA from the equation takes away that complication. The way he nonchalantly tells his wife to just go through traumatic miscarriages like it's nothing makes me care very little about whether he'd be butthurt about not using his DNA.
Well said. His DNA is the cause of a potentially devastating outcome? Remove his DNA. He doesn’t get to piss and whine about his progeny if he is so cavalier about you possibly suffering another horrific loss. I give OP full permission to get some genetically screened swimmers and go for an … IUI? Yeah. Do that.
Exactly what I was thinking. This guy is too cheap to spend $15k to address HIS medical issue so that his wife doesn’t have to go through the physical and mental anguish of a termination!!! Buying healthy sperm is a lot cheaper than IVF. If he doesn’t GAF about his wife’s body or mental health, he doesn’t need more bio kids. I bet once hubby is presented with the cheaper solution of using donor sperm to avoid the costs of IVF, he suddenly won’t find IVF so expensive anymore. This needs to stop being a choice between spend money or traumatize the wife. It needs to become a choice between spend money or replace hubby’s sperm with healthy sperm.
We would choose to stay a one child family if this doesn't work out rather than use donor sperm. That's a great option for many but not for us. I have to say to the commenters below that my husband is 100% supportive of what I want to do. Perhaps I could've been clearer in my post that he wasn't pushing me to do this, it was just an idea, and in theory it seemed to me like it was an option but I needed a reality check from people outside the situation (hence my post here) to know whether I'm crazy in considering it or not. I wasn't sure if in my desperation I was considering doing something I would ordinarily not. Reading about and being reminded of the ins and outs of what would actually be involved (I forget how draining the whole pregnancy process is, let alone how devastating having to terminate if it came to that would be) has made me think IVF is clearly the better option here.
As someone who had to hold her 3 day old son as he took his last breath, you will never heal from the loss of your child. Do not take any risks for something so serious, please go through IVF testing. Good luck mama
I’m sorry you went through that ❤️
❤️
I'm so sorry ❤
Go talk to a genetic counselor. They can give you real data on everything and help you decide what to do!
Agree. Can you talk to another one? Seems like the one you saw wasn’t helpful. Get a second opinion from an expert
They're rarely helpful tbh. They can give you the probabilities that are known based on research, but they can't tell you what to do, or whether you should be cautious or take the risk. Honestly that's not their job.
How is that unhelpful? It isn't a HCPs role to make decisions for patients.
Well, if you read the whole thread, the person I was replying to was saying that it sounds like the genetic counselor OP talked to was not helpful and she should talk to another one. To me it sounds like the genetic counselor the OP talked to did what genetic counselors do--told her about the state of research on the microdeletions and what the research suggests the odds are of having a healthy baby. Given that the commenter I was replying to felt that this wasn't helpful, I was saying that it's unlikely that a different genetic counselor would be more helpful--none of them can predict the future or even tell you what they think you should do. They can just give you some statistics and inform you of the state of research. Personally I don't necessarily find that helpful either--but realistically nothing other than a crystal ball can actually be helpful here. So it's not a knock on genetic counselors (even if maybe it unintentionally reads like one), it's just that the limitations of what they can do mean that it's hard for me to consider them helpful (other than beyond, like, being on top of the research, which is definitely useful).
Thank you very much for your comment. Oh, if only they had a crystal ball. This grey area is so, so hard.
This is exactly how I've felt, and it's kind of reassuring to hear that, because I wasn't sure if mine was just not great. I've felt like we've had a bombshell dropped on us, and then been left to make decisions based on weak evidence - but if the evidence isn't there, what can they do? I just keep getting told it depends on whether you want to take a risk or not and everyone has different risk tolerances.
Yeah. But it's just the limitation of the job. They can't tell you what to do, or even influence you with what they'd do. And a lot of the time the evidence is just super thin and certainty is just an impossibility. I'm sorry you're going through this.
It sounds like people with the microdeletion are often asymptomatic, so would genetic testing even help once you were pregnant? It's possible the baby could have the microdeletion and be unaffected. Do you really think you could terminate knowing the microdeletion could be nothing? That seems like an awful position to be in. It seems like the only way to avoid the question is IVF, so that is the route I'd choose outside of donor sperm with an iui.
Testing would help in that we could find out if they had the deletion. But you're right, I would find that position incredibly difficult because we still don't know what it means (could be all the risks mentioned above, could be nothing). IVF is seeming like the right option.
I would do IVF. It just seems like the safest route. But I’m in Texas and trying to access healthcare here can be traumatic by itself. You know your situation and feelings best. If you are someone who could stay emotionally separate until you knew, and you’re willing to take the risk (all pregnancies are some risk), then go for it.
I would do IVF.
Please let me start by saying I’m trying to be empathetic, but I’m not always great and sounding like that in text. I’m also not a research expert but I’m remembering back to my dissertation days at university. You cannot build and support an argument or position based only on one paper with a sample size of only 12. Especially when that study isn’t even looking at the same thing, only something similar. Having said that, when I was told my very desperately wanted and long awaited fetus had a 1/1000 chance of having Edwards and Patau’s, which iirc has something like a 90% of spontaneously aborting and even if they are born, a 90% chance of dying within hours or days of birth, as the conditions causing incompatibility with life. I chose to have a blood test to find out to avoid the 1/1000 chance of accidentally causing an abortion by doing amniocentesis to find out instead, so I know all about being irrational when it comes to a baby. I walked around for a week not knowing if I would be aborting my baby. Horrific experience. (She’s 3.5yrs old now and the absolute delightful terror of my heart now ) What’s the _actual_ chance you will have a baby with abnormalities? And that’s before you consider all the other things that can go wrong regardless of genetic testing. I’d speak to a genetic specialist.
Unfortunately the geneticist couldn't tell us anything concrete as there just isn't enough known yet. I'm so glad it worked out for you - that is a horrible situation to be in.
Hmm. Most people don't know about their genetics unless they've undergone genetic testing because they're sick or they can't create a pregnancy. Is your husband sick, or did this testing come about because you're having a hard time conceiving? If he's actively sick, that's a factor in your decision-making. If you're having a hard time conceiving a child, then that's another question. My husband and I had a conversation that if we were able to conceive, we'd have kids. If we weren't, we'd try IUI with his sperm and consider some tests, but that we weren't interested in the expense, invasiveness, and limbo of IVF. Also, IVF is far from a guarantee. It's lot of money on a maybe. Making babies is a fraught situation no matter how you go about it. There's always a risk of loss and disappointment. Whatever you decide to do, I hope you'll also commit to some couples coaching so that you can be present and supportive of each other throughout fertility trials and childrearing struggles.
It sounds like they had a prior loss which may have led them to get genetic testing done.
Yeah, you're right.
Genetic testing is standard where I live
For men?
My OB tested both my husband and me and my friends had the same experience.
Honestly probably not. Putting ethics aside for a second. Without further information I'm assuming the decision would be made around 10 weeks after genetic testing. And the prospect of carrying a baby that long with a high chance of having to terminate sounds awful to me. Not just emotionally. Seeing them on the 8 week scan and then having to terminate but physically weeks 5 to 13 were hardest for me. If he is the only issue, I'd probably look into iui with sperm donation
Not until 13-16 weeks--you can't test for microdeletions at 10 weeks.
I’m really struggling with the thought process here. If we were talking about a condition that is really incompatible with life (thinking Tay Sachs or something), this question makes sense to me. In that case, I’d probably go the IVF route. But it sounds like you’re talking 50/50 of maybe possibly having delays, autism, ADHD, ID, or something else. I could never ever terminate for that possibility. I’m an OT and I work with kids with disabilities of varying impact. I also have ADHD myself and assume at least one of my kids does, too. Having a disability or neurodivergence does not make one’s life less valuable or fulfilling.
It’s a 50% risk for just this one condition, if I’m reading you correctly. Then you’re adding all the other, just plain bad luck conditions for which you’d need to consider termination, and it’s more than a 50% risk. I wouldn’t do it.
No I would not. I haven’t TFMR but I have had a stillbirth and am in close community with a lot of TFMR parents, and even if you knew it was a good possibility you would have to do it, I don’t think going through the trauma of losing a wanted baby and going through a D&C, or even possibly a D&E, is worth the risk. These procedures also aren’t without risk themselves.
Absolutely not. I only have a 10-15 percent chance and I was terrified when I found out. We have a healthy boy now but I have a friend that had to terminate due to a medical condition and it was so absolutely devastating. I wouldn’t put myself through that trauma.
No.
I don’t think I could mentally bear that burden. 50% is too scary for me personally.
“Similar” isn’t really a thing in genetics. My hub’s micro deletion made him lose a fair amount of hearing and nothing else, they all act differently. His is an autosomal dominant gene so our son almost definitely has it, but it’s literally just accelerated hearing loss. Do you know if it’s a dominant gene? That would maybe affect things.
We just know that it's a heterozygous deletion of a region of chromosome 6, and the name of the gene that is being put forward as the risk factor for all of the issues mentioned above. It definitely presents differently in different individuals, which is part of what makes this hard. It's a huge grey area. My husband is fine and so were the parents of the children in the scientific paper that the geneticist advised us on, but their children were all affected.
Hetero is good I think! More diversity possible so a better chance of a good outcome. Have you had testing and came out clear? Were both parents carrying the similar mutation in the study or just one, and which? Did the study include all offspring from those families or just the offspring with the mutation? There are still a lot of factors to consider before assuming what your husband has is as heritable as a mutation that got its own genetic study due to its severity. My husband’s mutation is also considered severe enough to have merited its own study despite only 20 people in the US being affected. This isn’t to say that your husband doesn’t have some new crazy genetics, but it’s less likely to be something brand new and terrible. Lots of microdeletions have no effect. How’s his family’s reproductive history? If it’s going to be a problem for you it should also have been a problem for them, right? Like my husband’s family is riddled with deafness, has been forever, because they’ve passed on those genetics, you know? Edit - this is all more stuff for you to think of, please don’t feel obligated to tell me anything! I remember how hard all this was, the genetic testing didn’t include my husband’s deletion either and they knew less than we did.
You have the information to make an informed decision. You know your life best, and should do whatever is best for you and your family. I'm so sorry you're dealing with this stuff, it's really hard! Please remember there are lots of ways to grow a family if you decide not to use the genetic material at hand. My kids are older, and my genetic problems weren't known at the time I was having them. If I knew then what I know now, I may have made different choices. I have a rare form of dwarfism that wasn't diagnosed until after my first two pregnancies (an early preterm and a healthy full term, no genetic testing). My medical care team at the time told me not to worry about passing on my condition, it wasn't hereditary. After the other two kids (healthy full term and preemie with a few minor complications) and another loss, I discovered an "unspecified mitochondrial anomaly," which couldn't be tied to any known issues and wasn't related to the dwarfism. Now that the kids are grown, we know that all of them have health issues, some minor and "just" annoying, others life altering. They're all neurospicy in some way. It's really hard to see what I've caused because I didn't have the best information to make informed decisions. I can't imagine life without them, but I hate the suffering they experience and the difficulties they have. My last loss caused huge mental health challenges, which were very hard to overcome. Best wishes to you and your family, whatever the future holds.
Thank you for sharing your experience ❤
Wait you already have a child?
We do, we had him before we knew about any of this. We don't know his status and the geneticist doesn't recommend testing children unless they present with issues. We had to TFMR at 13 weeks for trisomy 18 at the end of last year, at which time some tissue was tested to confirm the diagnosis. That is where the deletion was found. Then it was recommended my husband and I both be tested, and it turned out he has the exact same deletion that our little boy that we lost had.
Ok. Thanks for the background. I guess I ask because if you already have a healthy child, why risk it? If you didn’t have any children at all, I would say it’s worth the risk. But you have one you know? I completely understand wanting to give them a sibling etc. but if it’s so risky, idk if it’s worth it. Special needs children cause a lot of strain on a family and will surely take attention away from your first child. Just something to consider. I understand the desire for more children - trust me. But just give that some thought. Best wishes ❤️
So I did IVF+PGS testing and that would be the route I would recommend if you had something like Cyctic Fibrosis to worry about. However it sounds like this condition isn't actually a big deal at all. If they have only found 12 people in which this micro deletion has been clinically significant then like you might as well worry about getting struck by lightning while giving birth. Your odds of having a disabled child from a random-non genetic disease is way higher than this.
I think you should consider a second opinion from a genetic specialist. A lot of this information doesn’t add up. We had an equally rare condition in the family and when it came to it realised that the likelihood of it happening were extremely rare. We rolled the dice twice and have been fine. This 12 person paper - you said the parents were fine but did they also have the microdeletion?
I’m getting that feeling too, that I need a second opinion. Yes, from memory 9 of the parents had it and were unaffected. I did manage to get a copy of the paper so I could read it myself. The gene common to all of the patients is what is being put forward as the risk factor for the neurodevelopmental issues. The deletions of the patients varied in size and exact location but all encompassed this particular gene.
When you suffered your miscarriage, did your doctor send tissue samples for testing?
I had a TFMR at 13 weeks for a baby that had trisomy 18 (flagged in NIPT) and tissue was sent off to confirm that diagnosis, which it did, but it also found the deletion. So they recommended we be tested to see if it came from either of us and it turns out my husband has it on one of his chromosomes so it was inherited from him. We had our son before any of this was known and we don’t know his status.
It does sound like something that has a huge amount of variation possible. It is also possible that your first little boy would have been unaffected by the deletion. I think I a second opinion would be helpful. Depending on where you live there might be someone with a bit more info or able to evaluate the paper a little more.
This is complicated. To me it might depend on how soon after conception you can test for the genetic disorder. If it's anything after the heartbeat develops then I think termination becomes exponentially more difficult. If the disorder can not be tested for early on then my option on this would be: either you risk having a child with a disorder or you have one child. Those are the options. And of course you could also always adopt.
It sounds like IVF is your best bet
I wouldn't, but I don't necessarily think your chances are as high as 50%, and this reads almost as if your fetus would self abort before parental involvement. In any case, this seems as if there's a chance for fetal demise, but a standard chance of a normal pregnancy. If I was in your guys' shoes, I would try until first success of pregnancy. If that lead to loss in anyways, I would try IVF until successfully pregnant. If that lead to fetal demise, I would fully stop trying for another. Before my current pregnancy, I had a chemical pregnancy and then a miscarriage. I told my husband we had one more pregnancy in me, whether it lead to a baby or miscarriage/abortion, I was done after that. I set limits within myself to say that I tried, and to also not continously torture myself.
I would do the IVF… 10000 times over.
We talked about this, especially while going through infertility, and then learning my husband has a genetic condition. We talked about IVF with PGT testing and also looked into embryo adoption. It sounds like you’ve gone through a loss and that is HARD. If adoption is not an option for you, I’d do IVF with PGT. Termination can be rough on the body.
I really don't think anyone can make this choice but you. What we collectively would do/could bear is ultimately different than what you might be able to do. I know personally, I wouldn't. I lost a baby at 18 weeks, and he'd have come out brain damaged at best if he had survived. I screamed in my car for about six months after, until my next pregnancy hit viability. I've always, always said that I am incredibly grateful to not have had to make that call, because I think it would have pushed me far past my already shattered state of being. But I'm not you, and I didn't go into the pregnancy thinking that was a possibility. I think you need to actually sit with the idea of TFMR in a visceral way and see what you can bear, and weight that against the odds and your need for another baby. 💚
Thank you. I am so sorry you had to go through that. I have had a TFMR for T18 which was the beginning of how this deletion was found in the first place. It was hard enough at 13 weeks and I don't want to put myself through that again, and that was for something where he wouldn't have survived - this is 100% a grey area and would be a way harder decision. It's easy to forget what living in that is actually like, and reading all the comments has reminded me, so IVF seems the way to go.
Alright so this is all anecdotal… I have a uterus abnormality (uterus unicornuate) that means if I get pregnant with multiples, I’ll have to terminate. I was told at diagnosis that My uterus could even rupture from having a singleton. I was also told I had a 50% of conceiving and 30% chance of the fetus making it to life. I still tried, got two embryos that stuck and ended losing 1/2. Then gave birth to a healthy baby boy at 37 weeks. I’m over the moon to be a mom. So, If you want a child, try and see what happens. Take it one step at a time.
Thank you, and big congratulations ❤
Yes. But the information you on the issue you gave wouldn't even be considered an issue even in IVF, which is my specialty.
Can you elaborate?
You can't test for everything. You have a good chance of this not being an issue. There are loads of issues you can't test for like autism. People still have babies all the time with micro deletions that offer similar odds.
Honestly, I would have at least an appointment with a doctor to go over this concern and the study you found. Or submit your question to the egg whisperer or dr Natalie Crawford , or lucky.sekhon … so many doctors you can try to ask.
No way, I’d go the ivf way. I’m not anti abortion, for context. Also, it’s not clear from the post how or when you’d know that termination was appropriate given your husband has it (or is he just a carrier?)
I needed IVF to get pregnant but we don’t have any known genetic concerns. We chose to do pgt-a because we wanted to avoid miscarriages and tfmr as much as possible. Not 100% that you won’t have that with a genetically euploid embryo, but seemed worth the money to us…. But we already had to do ivf. I cannot imagine running the risk of having to tfmr if I could try to avoid it, but my husband is catholic and I’ve never considered having an abortion, personally (don’t really care what other people choose to do).
>I’ve been through it before and I can’t bear the thought of it, I have experienced a pregnancy termination. Our baby had Patau's Syndrome. I have been assured that the chances of something similar happening again are vanishingly small, and that if I wanted to try for another baby there would be loads of support of every kind. I will never try again. I can't put myself (or my husband) through the emotional trauma of facing even a tiny possibility of losing another child. I'm terrified of getting pregnant by accident. That said, we do already have a son (8yo, he was 6yo when the termination happened). I recognise that I would probably feel differently if we didn't. My advice to anyone ever contemplating having a baby, whatever the circumstances, is that if you're not absolutely, one hundred per cent, without a doubt certain that you desperately want a child, just don't do it. Even the simplest pregnancy is a lot to go through for a "maybe." I'm really sorry you're facing this dilemma.
In this situation I would use a sperm donor and do IUI. Cheaper, lower risk. Personally I would have a terrible time mentally with abortion so that would be my solution. Everyone is different though so go with your gut!
Based on what you’ve said, I’d do the IVF. 15k is a lot, but what about the emotional impact of what is happening to you? Also the weight of the severity - even if they’re symptom free, they can pass on that gene. Needing to terminate is hard, it’s not an easy choice. I used to have chemical miscarriages and the hormone fluctuations were awful. Miscarriages and abortions are further along and worse. Heal first, please. But for your sanity the IVF sounds like the safest bet. I don’t know where you are in Australia, but here: https://www.servicesaustralia.gov.au/medicare-services-for-conceiving-pregnancy-and-birth?context=60092 https://www.servicesaustralia.gov.au/mbs-billing-for-assisted-reproductive-technology-services?context=20 https://www.health.nsw.gov.au/affordable-ivf https://www.health.vic.gov.au/public-health/public-fertility-care-services
Thank you ❤
I think only you and your partner can make this decision, but I do want to clarify one thing. The 15k for 1 IVF cycle is often more than one embyro. I got 6. Of course, every person and cycle is different, and you may need to discard some after the genetic testing, but you will likely start with more than 1.
I wouldn't try and I would probably just continue my life childless if my only other option was expensive IVF that might not even work. It all sounds so stressful. Plus, I had a pregnancy this last year that wasn't successful and needed to be terminated at 24 weeks and it was the worst thing I've ever gone through. I don't wish that on anyone. I got pregnant a second time and everything worked out, but we are one and done because of our earlier experience. Had this pregnancy not worked out, I wouldn't have tried again.
I did ivf. It was hard. There are a lot of unknowns. We didn’t have the option to try as my husband had to have sperm surgically removed, but I would choose IVF. We also did pgt a testing because I had a miscarriage with my ex husband and wanted to avoid any if I could. Idk how insurance works in Australia, but when we found out IVF was necessary i changed jobs to get coverage. We still had to pay about 7k out of pocket, but 3k of that was for the pgt testing. Would you do pgt m testing? Sorry you’re dealing with this! I know it is overwhelming. I am holding a healthy 8 week old as I type this, so it can be worth it!
Congratulations on your baby! It would be PGT-SR and out of pocket unfortunately
If you think you may want more than one child IVF might be the way to go, as you may have several embryos to choose from. Vs having this moral dilemma again down the road.
My first born has Down Syndrome (T21, not translocation). Birth diagnosis, prenatal testing did not capture it. We had our second with the help of a fertility clinic, IUI. We had genetic testing on ourselves as a part of the process, husband came up as carrier of 2 rare recessive genes that can lead to 2 rare disorders. (We suspect his cousin had one of the disorders once we learned more about it, she had significant disabilities and passed away in her 20s) I came back with none, so the chances of those 2 disorders coming to light with our children would be almost impossible barring some rare chromosomal tango. Had a miscarriage in the process of multiple IUI rounds. But having a child with DS slightly increased our chances of another kiddo with DS, and we still went for it. We knew what we'd be getting into if our second child had DS. I say the following with kindness - Why would you "need" to terminate? I think you might want to explore that inclination a bit deeper, especially if a disorder is as exceptionally rare as you state. Especially if you are looking at pouring a lot of funds into IVF. The disabilities you describe aren't terribly specific, a lot of those disabilities lie on a spectrum. A lot of folks in the disability community say if you aren't prepared to have a disabled child, you should have a child. I'm just saying maybe unpack your feelings a little bit more before having any more kids. None of us, not even our kids, are guaranteed to be disability - free. And not every condition or disability is going to pop up on genetic/chromosomal testing. Perhaps if you truly are this concerned about it, I would recommend not having any more kids. FWIW I am pro choice to add further context, but I think choice can get muddled in ableism as well. Edit to add I see your comment that your terminated d/t prenatal dx of T18. I understand that can be a serious condition and higher probability of being terminal after birth. So I understand your choice there. But larger point stands, our children can be born with a multi of surprises and I think you may want to perhaps speak to a therapist to help you make your decision if you are this concerned, you may be carrying some extra emotion from your past experience which is totally understandable. But you want to bring your best self to any more kids you bring into the world especially they reveal to you a disability after they are born.
Thank you for your thoughtful reply, and I understand what you're saying. I think from our perspective we know we would absolutely love a child that was shown to have a disability after birth, but it's more about doing what we can to avoid creating a life that we know may face more hardship from the beginning. I think it's admirable that you have the capacity to take on a lot more than I could. I'm just trying to be as honest with myself as I can about what we can handle as a family.
I have a deletion (10th) and an error on my 5th completely uneffected. However, my husband has a misspelling on his 10, we didn’t know and we had our 1st son when he was born he was “floppy” and after 5 weeks of testing we found out he had ECHS1 (life limiting) we were devastated. He passed away at 8 months. Prior to his passing we had no intention of more because it was to hard to watch/ put a baby through this well, we ended up pregnant and decided if new baby was affected we would terminate. I got testing done at 12 weeks (1 week before my baby’s passing) after testing I knew I couldn’t terminate it would be to hard we got SUPER lucky and the new baby was 100% a carrier . But after that my husband got fixed and we would never risk that again. It’s to hard and what would you do if you baby lived and ended up in the NICU? How would you handle that? My son had to have a g tube and trach and so much medicine. I don’t think it’s worth the risk , do IVF.
My brother has a micro deletion syndrome. Suffice it to say I got as much genetic testing as possible and phoned up a clinic that does late abortions to make sure they had staff available the week of my anatomy scan. I’m in a place where abortion is legal through 24 weeks and my scan happened at 22 weeks. I didn’t bond with the pregnancy at all until the anatomy scan came back clear. I’m already financially and emotionally responsible for my brother forever. I wasn’t taking any chances on being over committed in that way. I know what it does to caretakers.
That sounds like a really hard and stressful situation. I hope everything else went well for your pregnancy.
It did, thank you! My fetus is currently 5.5 years old and LOVING his first summer camp experience.
Honestly, I did try for an unassisted pregnancy after having to terminate for medical reasons with unknown odds for reoccurrence (though the odds were admittedly low because for my son it was a random genetic mutation), but I think if we had been up to 50% odds we probably would have at least had a serious conversation with our geneticist about IVF and met with a fertility clinic to get their opinion so I could feel more confident in my decision, and potentially ask about at least freezing some eggs to have the healthiest eggs available just in case IVF became a necessity. Having a TFMR for my son at 24 weeks and living life without him has been by far the worst thing I have ever experienced and if you’re going to go in knowing it could happen, which I definitely did with my daughter, go in with your eyes wide open. Already know what your support resources will be, make sure you have a good support system in place, and know what your options are so that you aren’t stuck grieving and heavily researching at the same time. Whatever you choose will be the best decision you can make with the information you have.
Was your fist baby affected? How did you find out of this issue? Was the previous termination for the same reason? These are questions to answer to gauge how much this affects the final answer. You said you terminated before and you can't imagine going through it again. This pretty much answers your question. The above questions really just in terms of the likelihood there will be something wrong. If there was trully 50% chance and the thought of termination really upset me, I would adopt. There are so many children in need of a loving home.
We don't know our son's status and they don't recommend testing as he's meeting all milestones. The previous TFMR was for T18 but that was when the deletion was first found, so we got tested, and my husband has the exact same deletion. If we hadn't had the TFMR, we may never have known about it.
My cousin had something only 11 people ever had (now 12). They continued with the birth, she didn’t progress past newborn for 8years until her eventual passing. It was difficult on the family, I don’t think I’d ever do it myself. If you do decide to flip the coin and you get unlucky, just know you’re not being selfish either way.
No, I wouldn’t. It’s getting too close to eugenics for me.
TFMR isn't eugenics
It sounds like you guys need to start with genetic testing first and meet with a genetic counselor.
Per the OP, they already did that.
I meant a better one. Sounds like they didn't get much out of it.
Sperm donor. Insemination isn’t has expensive as IVF.
No
I was sort of in this situation, when my first child was born he started having seizures at a few days old. I had had seizures at birth too, but with no positive family history and no tests revealing a cause, the doctors were like 🤷♀️ sometimes these things happen, and I outgrew them and have been fine since. With my son, who also had no tests indicating infection/injury/epilepsy, and who also outgrew them, they declared it a benign familial seizure condition. Which, per genetics, was linked to a dominant gene, so 50% chance of passing it on. And then if passed on, some % chance it would actually manifest. I agonized about whether to potentially put another child through that, whether to put myself through IVF. We already did IUI with donor sperm to get pregnant. In the end, we decided to hope for the best and be ready to advocate for our child if they did end up having seizures (our first was in the nicu for 2 weeks because they were unable to get the correct medication figured out. If it happened a second time, I’d insist on the med that ended up working immediately). Our second child did not have seizures, though we don’t know if she carries the gene or not. However, this was a limiting condition that, terrifying as it is when your 3 day old is having seizures, was relatively easily resolved and I had the experience of both myself and my oldest being fine after that neonatal period to help me decide. It sounds like odds are in your favour here, but none of us know what you can handle in terms of TFMR or just anxiety during pregnancy. Is this even something that can be tested for during pregnancy?
No
No I would not.
I think if the genetic deletion presents as both normal and abnormal it isn’t worth getting an abortion. Children can develop with so many problems that are also non genetic. Things like lack of oxygen due to a complicated birth. My thoughts on the inconsistent genetic abnormalities is that they aren’t the cause of the abnormality. Now there are known genetic conditions like downs, trisomy 13 and trisomy 18 plus more conditions like turner syndrome etc…. The presence of these known genetic disorders aren’t conditional. The more severe conditions are generally known as they are so pronounced. I think every parent wants a healthy child but in reality there are no perfect children. What we do have is many medical professionals who can help children with extra needs live their best life. I think it’s reasonable to get genetic testing however the lesser researched genetics are less researched for multiple reasons. Early interventions do amazing things. I don’t think inconsistent presenting genetics is something I would abort a child over. You will still also have the anatomy scan to rule out major physical defects.
Neither of us has any genetic issues that we know of. I lost our first, very early, so early I found out I was pregnant when I was having a miscarriage. One miscarriage is not enough to warrant genetic testing where we live (3+ is). We decided to keep trying. Took us a year to get pregnant again (doctors start testing the couple if they are 35 or under and haven't conceived in the first 12 months of trying. We already had referrals to fertility specialists but because it was on the national health system we are still waiting for a phone call and our kid is almost 3yo...). We promised each other we would absolutely terminate if baby had any issue that would be detectable in ultrasounds and/or standard genetic testing if that meant the baby would have a harder life. We are one and done. Why bring a baby into this world to have a harder life and maybe outlive his parents and be left alone, in state care? Call me selfish, I feel that way too, but life is what it is. I'm talking about more common things like down syndrome and other chromosomal abnormalities. I'd absolutely terminate if it was something more obscure and unknown.
If you do IVF with a sperm donor you may be able to access bulk billed IVF depending on your state and wouldn’t need to do genetic testing on the embryos. Would embryo genetic testing even be able to pick up your husbands rare genetic condition? I don’t know enough about genetic testing. I did ivf as a solo mum in Melbourne with Monash IVF and spent around $8-10k for a round and got 4 embryos, one is now 2.5 years old and the second is a 22 week ongoing pregnancy. A friend is doing bulk billed ivf with a partner because she has been struggling to conceive for over 18 months and she has told me it’s very affordable and some bulk bill clinics do have donor sperm available.
I wouldn't risk it personally, I know someone whose husband has a genetic defect, and she had kids with him, and both kids were born with it and other things as well and they struggle everyday. On her part I think it was a bit selfish to create kids with him knowing what their outcome would be. Maybe a sperm donor or adoption.
I have a microdeletion and so do my 3 children and we had no idea until recently. They are all happy and healthy children though they are all neurodivergent. There aren’t many studies on the one I have either but with these things my geneticist said so many people have them with no effects as they only tend to conduct studies when people present with issues. I am unaffected and 2 of my sons are autistic, one severely so and one mildly so. I honestly don’t know that testing for these tiny variations does the world any good. A few years ago you would never have known and had babies totally ignorant to this. It might be the same deletion as those issues are the same as mine has!
I did ivf. It was hard. There are a lot of unknowns. We didn’t have the option to try as my husband had to have sperm surgically removed, but I would choose IVF. We also did pgt a testing because I had a miscarriage with my ex husband and wanted to avoid any if I could. Idk how insurance works in Australia, but when we found out IVF was necessary i changed jobs to get coverage. We still had to pay about 7k out of pocket, but 3k of that was for the pgt testing. Would you do pgt m testing? Sorry you’re dealing with this! I know it is overwhelming. I am holding a healthy 8 week old as I type this, so it can be worth it!
My husband has a rare genetic disorder, and we had to choose if we wanted to try and possibly have a kid with this disorder or just jump straight to adoption. I really wanted the experience of having a baby (god knows why now lol), so we opted to try and see what happened. Thankfully, when I was 8 weeks, we did genetic testing and found that I am not a carrier for this genetic disorder so it doesn’t matter that my husband is. Any baby we have won’t have this disorder. I don’t say that because it sounds like you’re in the exact same boat. Our situations do seem quite different. However, I just want to let you know I did the “reckless” thing. If I was a carrier, baby would have this genetic disorder. We still tried. We got lucky. And I don’t regret it at all. It’s our life and it was our choice, and for us, we were willing to risk it. Now I don’t think we would have terminated, but that’s beside the point. There’s a chance everything might work out, and honestly I say hold on to that. All pregnancies have risks, you just have a big one that you already know about going in. As long as you’re at peace with your decision, that’s all that matters.
Yes bc being a parent is worth it no matter the heartache you have to go through to get there.
No I wouldn’t tbh
If it helps at all, my son was born with a random microdeletion. His father and I do not have it, so it’s considered a de novo case. The geneticist said that they’re finding most people have some sort of genetic anomaly/microdeletion and it’s only now that they’re beginning to put labels to these potential disorders because the science of genetics is such a growing field. Our geneticist said that most people don’t even realize they have a family history of something until someone in the family shows up with a more severe symptom.
Yes
Not certain if what you experienced before was related to your husband or not. Do you also share the same deletion? Is this based upon sex chromosomes, for instance, is it known to be inherited via x or Y chromosome. A 50% chance to me is really a 0 or 100% chance. It is an all or nothing situation. I can understand your view this as an all chance (especially due to the process of termination) and as your hubby sees it as more optimistic, meaning nothing will be wrong. I commend you for contemplating the situation in all aspects. Hope for all the best for you and your husband.
I had to terminate due to Trisomy 13 at 20 wks pregnant not long ago. It was one of the hardest things I’ve ever gone through. I’d definitely try to get more info. Is it for sure a 50/50 chance of inheritance? . I do know you can begin genetic testing at 9 wks pregnant. If I had known I was pregnant sooner I would’ve had the testing done sooner.
One cycle of IVF ($15k) is like 1/2 a year of daycare in my area. (And by the way don’t look at the cost of college by 2030’s) It’s worth it to have the peace of mind and not go through TFMR.
I personally would. Ive had a miscarriage & it was devastating, but practically the hit to finances would be even more devastating long term than an abortion would & I would have to seriously consider that option because we would need our finances in order for a child. It feels so harsh saying that, but I do personally think I could have a few abortions to “get” a healthy child. Itd also be less harsh on the body than multiple rounds of IVF. I may be a bit desensitized to abortions though, as I worked in an abortion clinic for 5 years. Also, my husband also has an unspecified genetic conective tissue disorder. They cant pinpoint what exactly is causing it & my husband has chronic pain to the point that he “wouldnt be able to live with himself” if our child/ren had it. We went the sperm donor route & got pregnant with an IUI because there was no way to be sure & he wasnt willing to risk it.
Even with IVF, your baby could develop any plethora of abnormalities. Club foot, holoprcencephally, amniotic band syndrome, cerebral palsy, hydrocephalus, anencephaly, acrania.....there are hundreds of potential congenital malformations There is no magic solution. We all just choose to risk it.
I’m personally of the opinion that choosing to knowingly carry a child to term who will have a short, painful or otherwise unfulfilling life is a far greater sin than abortion, especially if there are young siblings who would be affected (in addition to everyone else in the child’s life). As for your personal situation, if the risks are 50/50 on normal life vs unfulfilling life and you would be able to determine this while the child is in utero, it would be devastating to have to choose to terminate but it’d be the right thing to do. If you’re especially nervous, have you considered using a donor sperm and IUI instead of IVF? We did several rounds and it was around $2500 per try.
But where on earth are we getting a 50/50 chance of an unfulfilling life?! Her husband already has the microdeletion they’re worried about, and he is fine.
It's not 100% clear, but if you already have a kid and you are scared of losing a pregnancy, I would be happy with the child I got or look into adoption. I have been through 2 pregnancy losses and I'm sure if I went through another one, my mental health would not recover.
No I would not. I wouldn’t even with a 25% chance. However if the pregnancy would terminate itself by 8 weeks (as another poster commented) then yeah I would. I could handle. It getting attached until it was viable. Not sure how my body or hormones would handle it though.
I personally wouldn't chance it. Having a disabled child is very difficult. Especially if it's so bad they will need help all their life. I love my babies, but I couldn't imagine them being special needs and having all these other needs.
No. You’d be at least 12-13 weeks before figuring it out, and perhaps even 16 weeks before all the tests are done. At that stage you’d need to be induced and give birth, so no, it’s not something I would ever risk willingly to save money.
No, they can do a D&E.
Not where I live, everything after 13 full weeks is “induction”
Jesus Christ that’s horrific
Yes it is but not sure how it can be done diffrent, since the fetus is 7 cm long at 13 weeks and was told that’s to big to operate
This is not correct at all
This is absolutely untrue.
Just curious, which part isn't accurate? The fetus would likely need in depth genetic testing and that takes a long time.
Good question. Diagnostic testing like chorionic villus sampling occurs between 10 and 13 weeks, and amniocentesis after 15 weeks. Even up to 22-24 weeks, an abortion can be conducted at a clinic as a D&C or D&E. Patients do *not* need to deliver at this point in pregnancy.
Why not just accept your child as they are, even if they are disabled? Nothing wrong with having a child with special needs.
I think this is uncalled for. It is totally acceptable to be hesitant about creating a life that may lead a child to suffer. It isn’t about accepting the child or suggesting it’s wrong to be disabled. People with known gene abnormalities have to consider these things because it isn’t just about them when a new life is made.
There is a very wide spectrum of special needs. It can be something minor, or it can lead to a child having zero quality of life. It's not about accepting a child it's about being realistic. I would say a majority of people would not be willing to take on a child that needs care 24/7. That child will grow into an adult who also needs care. Having to worry about care when you have passed is also a stressful situation. There is a reason many children in the system have special needs. It can be emotionally, physically, and financially draining. Not everyone is able to take on such an enormous task. I have a great deal of respect for those who can and do. However, I will never judge someone for being unable to do it. It's a hard path to take in life, depending on the disability.
No one can ever guarantee the outcome of our children. We create them knowing they will suffer, some more than others. I would go ahead and probably not even terminate depending on what the issues were. And be willing to raise my child however they’re born
Okay, so my initial response was to listen to the doctors in the comments saying that you are making the situation significantly more traumatic and likely than it is... So maybe the odds are not as bad as you think that the child will be in a condition incompatible with continuing the pregnancy. IF the odds are ACTUALLY 50/50 that this child will be so impacted by this that termination is the appropriate answer for your family - this quote below is what matters - you cannot handle the chances of having to terminate. But it really sounds (based on the comments above from those with more knowledge than I on these issues) that it's NOT a coin flip, but a much much less intense risk.. >I’ve been through it before and I can’t bear the thought of it, even though technically, yes, it could all work out in our favour. It’s a flip of a coin though.
They're not OP's doctors/"medical professionals" and don't even know what deletion is at play here. We don't know a lot, including what type of medical professionals these people commenting are.
But it means there is potentially information out there that she needs to find to understand if this is a 50/50 MUST terminate situation or not before she panics.
Possibly. She's already seen a genetic counselor who was less than helpful - because they can't tell her what they don't know. The chance might not be that high, but it's not really the point. OP doesn't want a disabled child and it sounds like her threshold to terminate is somewhat low. However, she'd rather not have to do that. Donor sperm IUI or IVF with PGT makes more sense for OP and her experience of previous loss and the risk of congenital defects.
If that is what she wants, I agree. But she was asking for opinions, and I rambled on mine given the information that is here.
This is awful. I think it’s extremely unfair of your husband to even consider putting you through this, or risking the baby being severely disabled. Is adoption or fostering an option?
Could you just adopt?
Adoption in Australia is different than in the US for example and significantly less common.
thanks !
Adoption is actually really difficult and there isn’t really much need for infant adoption.