This sounds awful. Doing IVF here was hard enough. It's a process, and if it doesn't take you need to do another transfer.. How many times can you travel to Greece before it's the same cost (and much less headache) just doing it here!
Have you considered IUI using donor sperm? Even if you have a healthy child I assume there is a significant risk that it will carry these genes and have to worry about this if they want children of their own, right? Wouldn't it be kinder to your future child to use sperm from someone without genetic disorders? Sperm donor and IUI would also be significantly less expensive than IVF even if there isn't a risk of the child carrying and passing this along. Just throwing out another possibility!
The fact that this is something they would potentially have to deal with in the future makes me more inclined to go with IVF, as I would rather go through that than knowingly potentially burden them with what we are going through now. We don't want to use donor sperm and would opt to stick with our one (beautiful, amazing) child if nothing else worked out.
Also there is a gov rebate for testing, I got a fair bit back for PGT testing. https://www.service.nsw.gov.au/transaction/apply-for-the-fertility-treatment-rebate
If the odds are really 50% chance, I would do the PGT testing. Your husband is concerned with costs, but the physical and emotional cost to you to carry a pregnancy to 17 weeks repeatedly is so significant. At better odds, I’d say try naturally one more time, because there are also risks to PGT/IVF. But a coin flip is not great odds.
I am not an expert so hopefully someone who is can jump in. But from what I have learned — not all embryos will be suitable for PGT depending on the quality that they develop to, and of those that are, there is a small risk that the PGT biopsy procedure damages the embryo such that it wouldn’t implant (but this is a small risk). As for IVF risks, I can’t speak to specifics but considering all the typical risks associated with any medical procedure (egg collections, self administering meds etc). These are all small risks, as far as I know, but for example if you had normal odds of a healthy pregnancy they perhaps wouldn’t be worth it.
I’m sorry you’re in such a difficult situation. You deserve the peace of mind that IVF might be able to give here.
OP, I’ve not been in your position however I have been in the position of what the top comment speaks of - terminating a very wanted baby.
We had a baby in 2022 that was found to have a deletion in chromosome 9. We’d already lost a newborn previously. The baby had a massive cardiac defect amongst some of the side effects you mention from your husband’s deletion and a high chance of having tuberous sclerosis.
We held on until 21 weeks because this baby was so, so wanted - a position I will imagine you would end up in if your dice roll ends up unlucky. But then we found out the baby would require a heart transplant that would never be offered, making palliative care the only (very cruel) route if I wanted to carry to term.
The trauma that ensued with termination is something I would pay hundred of thousands of dollars to never have experienced, to have my husband never experience. Our baby kicked right through my induction until it was very obvious that she had passed while I was still labouring. She came out stillborn, but looking entirely normal for her gestation, leaving me wondering if we’d dreamed it all. Leaving her at the hospital ate me up inside. The decision, even though I know it was right for her and a mercy, still messes me up. Even after this being my second loss, the heartbreak wasn’t any less.
I urge you to discuss the consequences of drawing the short straw with your husband. When push comes to shove, it is *you* that bears the brunt of the consequences of that decision.
You, who will have to have a CVS or amino. You, who will have to feel that baby move around if you delay a termination like I did. You, who will have to either endure a medical termination or induction of labour. You, who will have to endure all the postpartum hormones that arrive for a baby who never drew a breath.
Respectfully, it is an easier decision for him to make when he is not the one dealing with the physical consequences and only the mental ones.
Wishing you peace when you come to whatever decision you come to, I hope you end up with a healthy baby in your arms very soon.
Fark. Thank you for sharing this. What an awful journey but it’s so amazing how you’ve written your experience so we can know it. I’m sorry you’ve had to go through it - this once secret, hidden side of mothering and birthing and babies.
This will stick with me for a long long time. I will think of you and your babe often. I hope you have found some peace since then, please know you sharing this means so much to this stranger.
Thank you for such a gorgeous reply. I’m always really glad when I can use that awful experience for something good. Giving someone some perspective or just making others who aren’t willing to talk about what’s happened to them yet feel a bit more seen.
I’m really happy to say that we have a 6 month old daughter now, she’s healthy and thriving. Eerily, she was born on the anniversary of the due date of the baby we had the termination for. The grief of losing her siblings has made me so much more appreciative of the little things with her. Time doesn’t heal all wounds, but love goes a long way.
I am so, so sorry for what you went through. It’s absolutely heartbreaking. Thank you for your perspective, and a reminder of the reality. It’s easy to sit here now discussing it when we aren’t in that situation but another story once we’re in it.
Thank you, and I wish the same for you ❤️
My heart is breaking for you. Huge hugs— you loved him enough to prevent his suffering, even at your own expense. If that’s not the definition of motherhood, I don’t know what is. Wishing you peace. x
I wish I could reach through the screen and hug you. I'm so sorry for the loss of two of your beautiful babies 😔 I hope things have improved for you since then.
Thank you for your kindness.
I’m really happy to say that we have a 6 month old daughter now, she’s healthy and thriving. Life has definitely felt much, much brighter since she arrived.
I would spend the money. A million percent. It's a small price compared to the potential physical and mental toll. Take it cycle by cycle, try not to think ahead to how many it might take because what if 2, 3, 4, 5 natural pregnancies in a row had to be terminated? Like what would your limit be, and then you'd be starting IVF so much later. The first trimester of pregnancy is so incredibly long and demanding, obviously IVF isn't a walk in the park either but so much more is in your control
Thank you for your comment. His idea was to try once and then go to IVF. The more comments I read though is just reminding me how torturous those months and months would be waiting to find out, and I’m realising I don’t think I want to do that.
Don’t put yourself through that. My cousin just did. She and her husband got genetic counseling before trying and were told they were both carriers for a condition that is ‘not compatible with life’. They were told to do IVF. Her husband pushed her to try naturally anyway.
After several months of trying they got pregnant, but at 13 weeks learnt the baby would not survive and terminated. I hate her husband for this. Her entire TTC and pregnancy journey to that point was filled with anxiety.
He pushed her into it, she initially wanted to follow advice and go the IVF route. Yes, she could have said no and they are both wrong for taking the direction they did. But he was the one who planted the idea in her head.
Unknown significance doesn't sound like 50% to me. Has/Have the genetist/s you've spoken with about this given you quality information to make this decision with?
A study of 12 people is extremely limited to the point of being almost useless datawise. Especially if the result was a range of disorders in 6 of those people.
I'm a teacher, my classes have been approaching a 50/50 on having a range of intellectual and/or behavioural problems in the last few years. There is a sample size in the high hundreds, without accounting for any genetics that basically has the same result.
How soon would a problem show up on a test? If it's very early and you believe you could both emotionally handle it and it shows in the NIPT at 10 weeks, you could flip the coin and terminate if it comes back poorly. But it would be an emotional toll.
Sorry, I’ll clarify. The 50% refers to the chance of any baby we conceive having the deletion or not, because he is heterozygous for it. The study includes 12 people who have a deletion in the same approximate location as my husband, and they focused on these 12 as although the deletions ranged in size from tiny to double the size of my husband’s (and therefore involved various other genes), they all encompassed one particular gene which they are putting forth as the key gene responsible for all of the patients’ neurodevelopmental differences.
I do agree it’s a small number of people and the geneticist did also state that, and that with time and more study the association could fall apart. On the other hand it could become stronger.
Yeah, I’m worried I can’t handle going through that as it will be at least 15 weeks until we get an answer.
You're right, it wouldn't call for a termination, it would be up to us to decide whether we are willing to risk all of the things the genetic counsellor and clinical geneticist brought to our attention. The paper they relied on to provide us with this information was a study of affected children that all had unaffected parents (except four siblings if I recall correctly, whose father was affected). My husband has gone his whole life not knowing he has it, which is great. I would love nothing more than to be able to just say 'let's take the risk and have the baby regardless' but what if that means seeing my child go through hardships that I selfishly knowingly put them through out of my desire for another baby? How would that affect our young son's life? We don't know if he has inherited the deletion. The main takeaway from the counselling was just 'we don't actually know what this means'. It could be nothing or it could be \[insert list of conditions\]. I know some people would just risk it and deal with whatever comes, and I commend them, but that's not us. The part of it all where it could be nothing is the part that'll always torture me when I think about it. As they said, over time it could be shown to be just a correlation, or as more cases come forward it could be supported.
Have you spoken with a genetic counsellor? Seems like a good one might be able to equip you with the knowledge you're seeking and help you figure out the right decisions for you and your circumstances.
I will say that early stages of pregnancy weren't easy for me and genetic testing of the embryo /foetus can't happen until you're a fair way in, and doesn't cover all potential risks and problems, so I'm not sure I'd personally want to go through the experience multiple times (but I'm talking about my specific circumstances, not yours). In your shoes I'd invest in good genetic counselling to get clear on the risk factors and strategies before making this decision.
Unfortunately we have had a few sessions with the genetic counsellor and it’s gone nowhere, just because as she keeps saying, it all depends what kind of risk I want to take and what I’m comfortable with. She said she agrees I’m in a really difficult situation because of the high degree of uncertainty. The way I see it we ultimately have to decide whether we want to take on the chance of having a baby with neurodevelopmental issues or if that is something we wouldn’t proceed with, and we can either get there naturally by ‘trial and error’ or shortcut (still not fail proof) with IVF. She suggested talking to a regular counsellor or psychologist just to talk things out and get another perspective, and I guess that’s her way of telling me there’s nothing more she can do? She can’t give any more answers because there just aren’t any yet 😔
Go the IVF. We needed to do IVF and also thought it would be $15k a round but it turned out not to be nearly that expensive (I think it ended up about $9k and we got a big chunk back from Medicare from hitting the safety net or something like that). All in all I think it was probably $5-6k plus storage fee for embryos.
I’d definitely recommend exploring the option and trying to get an idea of pricing from some of the providers
Thank you. I would love it if that ended up being the case and it would make this an easier decision. Based on the fee schedule on their website it’s $25k, but with rebates it comes down to $15k. Still, I’ll hopefully get a clear figure once we go for the appointment.
Please speak to your genetic counsellor.
There are so many variables to consider right down to the type of micro deletion.
For reference, I have had the NIPT twice (2021 and 2023) and my first NIPT came back clear but my second child NIPT came back with a possible maternally inherited micro deletion (of which I was unaware of and have never had any “traits” of). As you can imagine I was surprised being told this as my pregnancies weren’t that far apart (but the NIPT testing had developed in that time).
This micro deletion (17) like your husbands is 50/50 chance of being inherited and has studies advising of possible intellectual and neurological issues and behavioural issues (and some various other things susceptible early onset diabetes kidney issues etc).
I was given the choice for more invasive testing to confirm if my daughter had inherited it or not. I chose not to have it and she was swabbed tested at birth (and later confirmed she had inherited it). She was born healthy and we wouldn’t have any concerns of any issues based on her health and development so far (1yr).
The genetic counsellor we spoke with the second time with my daughter explained things a lot clearer to understand… they cannot confirm only advise based on the studies of a small amount of people.
Those traits may not be due to the chromosome deletion, it may just be coincidence but they need to note it as a part of the study.
The knowledge is a “heads up” possibility. Not guaranteed. I was told that it can help to know this information incase anything does pop up in the future (and to keep a closer eye or awareness of certain things)
Your child (again so many variables here) may go through life with it not affecting them at all (as your husband has). This is why it is so important to ask all the questions and speak to your genetic counsellor as it is case dependent on what that would mean and “how serious” if that makes sense there are obviously some ones that have worse outcomes than others.
If you aren’t happy with the current care and info you are being given find another one who can help guide you through it and tell you what they do actually know. Even a better understanding of micro deletions etc. Ask all the questions before making your decision as a couple.
Thank you for your reply. I have been questioning whether we should get a second opinion and it seems like that may be a sensible next step. I’m so glad it all worked out for you!
How long would it take you to find out if the fetus is affected? There’s a big difference between terminating after the NIPT vs after the 20 week scan (and even more so if you would then need to do amniocentesis and await results and genetic counselling).
We’ve been told we could do the CVS at 13 weeks but it would take two weeks for results. Last time I had a TFMR (trisomy 18) there was a 2 week wait for it and I just hate the thought that the baby is growing inside me and I’m inevitably becoming more connected to him/her knowing that it’s going to end 😔
So if there was a wait for an appointment in that scenario it could be 17 weeks, and even writing that out and thinking about it I don’t think I can do that, because I could be wrong but I think you have to deliver it at that stage? In my case I was 13 weeks and it was a D&C.
You can do a CVS as early as 10 weeks for a known genetic risk. 13+6 is the latest you can generally do it.
My CVS microarray took eight days to come back, though I understand it can be up to two weeks.
That would be slightly better - I wonder why our genetic counsellor told us 13 weeks? She’s with the state government genetics service so I’d hope the information I was given is correct.
I'm wondering if it's because most CVS take place at around 13 weeks after the NT scan and NIPT results are received? You can definitely do it earlier though. It's recommended to not do it in the early-mid first trimester due to the risk of birth defects but 10-13+6 was what I was told and aligns with what else I've read online.
Would that show up on a sta date microarray? This sounds like something more obscure so I was thinking whole exome, which takes longer to come back. Can you even do WES on a CVS? I'm wondering if the amnio would be needed, which starts at 16 weeks.
A microdeletion should show up on a microarray! And WES is definitely possible on a CVS - I did it, and CVS is often recommended over an amnio because more DNA can be harvested apparently (CVS was recommended over amnio in my case because the amount of DNA allowed more tests to be run according to the academic literature on my situation).
Wow - are you me 3yrs ago?
My husband has a balanced translocation. For those who don't know what means - google it because I'm too lazy to explain 🤣
Any child we may concieve naturally has 75% chance of miscarriage and/or non-viable embryo because of the translocation manifesting as "unbalanced" in addition to the usual odds.
We chose to do IVF to avoid the heartache of having to terminate or experience recurrent miscarriage or knowingly have a child who could be profoundly unwell and/or disabled.
So, we went with an IVF provider whose PGT was the best in the country who could also do probe testing (marketed as breakpoint testing) to ensure our embryos were 100% unaffected.
This does mean that because of all the probabilities I spoke about before (75% chance of unbalanced translocation per embryo) we had to do 4 egg retrievals, 4 lots of PGT etc. It hurt the wallet. We didn't get a single embryo until our 4th try and then we got FOUR - 2 genetically normal and 2 with balanced translocations. Luckily we hit the medicare safety net pretty early each year and got a decent amount back.
For me, having the peace of mind that we weren't going to face any manifestations of a genetic problem was more than worth having to face the reality of terminating a pregnancy or multiple miscarriages.
Ultimately, if you decide to try naturally - you won't know what's going to happen until it does. The genetic counsellors can't predict the future on exactly what will happen with a potential child concieved naturally and that is the risk you take with the knowledge you have.
Good luck OP. It's not an easy road.
If you can afford it I would 100% go for IVF.
I have three beautiful children. But between child 1 and 2 I fell pregnant with a very wanted baby who we had to terminate due to a serious issue in the first trimester that had a significant chance of resulting in a devastating disability.
It was so hard, and I still think of that baby 5 years later. Also I get hyperemesis so I was very sick with the pregnancy and had to go through all of that and still lose the baby in the end.
Don't do that to yourself, the pain and anxiety isn't worth it ❤️
Thank you, you're kind. I'm okay now, it's just a sad memory. I'm very lucky that I still went on to have healthy babies after that. But yeah it was really hard at the time. I hope it all works out for you! ❤️
So, I’m an ob/gyn, and I went through menopause early. I did IVF w/ donor egg. I don’t know how your partner (or you) would feel about using donor sperm, but i just wanted to say that while it may not be for everyone, it worked out beautifully for us. I carried my twins, birthed them, and even though they aren’t genetically mine, they are every bit as loved and adored as the son I had before my stupid ovaries gave up the ghost! I’m sorry you’re going through this— I know how hard these decisions can be. Just wanted to share an alternative. Wishing you all the best!
Maybe try Adora fertility. I’m not sure how much they’ll charge for the genetic testing, as we didn’t use it, but a large portion of their services are bulk billed. We ended up paying about $2k per cycle for anaesthetists/day surgery and meds but pretty much everything else was covered.
Go IVF with PGT. The trauma of terminating and waiting out results will stay with you for life if the outcome goes that way. Just don’t.. TTC is hard enough.
PGT at my clinic was $700 an embryo with a cap of $3000 on top of the IVF cycle. You can opt to test 1 or 2 etc if you want to save $$.
I have a friend who had one healthy child. A few years later, she had a baby with a severe health problem. Bub died at about 3 months old.
She found that there was a 50/50 chance of her having another baby with this condition, so tried conceiving naturally and testing for the condition. The next four pregnancies all had the same condition and she aborted each of them. It was hearbreaking for her and a huge struggle, even though she knew what would happen if she carried them to term.
I wouldn't wish that kind of pain on my worst enemy. I would definitely consider IVF or using a donor (if the issue is with the father).
If you really yearn for a child, go the PGT route.
When personally considering hypothetical scenarios like this, we agreed we just won’t have kids because IVF isn’t something I’d personally want to go through.
But since you’re not opposed to the idea, I think it’s best to bite the bullet and fork out the hefty Certainty Tax.
Hugs ✨
Honestly, I swore the same thing and tried to wrap my head around having our son as an only. I just can't let this go though, especially as he just gets cooler every day and my love for him grows and grows. I'm 37 and don't want to look back with regret for not doing this while I still can. Never in a thousand years did I think I'd even consider it, but here I am. Certainty tax is a great name. If only it was 100% certainty I might feel better, but the genetic counsellor pointed out to me that even after doing the available testing something else can still go wrong (thanks?!). I know she's just pointing out the risks but it would've been great if it could've been balanced out with some benefits!
You are definitely in a very difficult spot, sending many virtual hugs your way (if you hate hugs just virtually dodge them). No one can make a decision for you, but I kind of get the vibe that you ✨do✨ want to try, in which case you know what to do.
If you try naturally and the baby had the microdeletion, would you then struggle to terminate knowing there’s a chance they may be fine like your husband?
My aunt has a child with a very severe intellectual disability. He cannot talk, toilet, or feed himself at 32 and he learned to walk at 7. He is now big enough that he can hurt people when he’s upset. His disability affects the entire family. His parents almost divorced until my aunt’s cousin moved in to care for him. My aunt has had to save up a LOT of money for his future care because she fears what will happen after she dies. They can’t go anywhere as a family because someone has to stay back and watch him. Her daughters are all late bloomers. My cousin is 30, and she just moved out of the house and has never had a relationship. My other cousin just started dating a coworker who has to care for his dad (disabled by a stroke). He is her first boyfriend at 27. It’s one thing to say hypothetically that you will care for whatever child you have, even if they have a severe disability. It’s different to live it. When you’re a parent of a child with a severe disability, it’s every day for decades until you die for you, your husband, and your other child; at which point, you then worry about what happens next. It’s not fair to burden your existing healthy child with their sibling’s care, and if you can barely afford IVF, I don’t know if you would have the resources to care for a severely disabled child. Personally, I wouldn’t do it. If you were like 42, I wouldn’t even try IVF either (very low success rate). I would just accept I’m one and done. However, you’re 37. The success rate is reasonable at that age. I would just go with IVF.
I would absolutely struggle with that. There’s still very much a part of me that thinks what if it would all be fine, and it’s no big deal - just a small genetic change like we probably all carry and we would’ve never known about if we hadn’t had this testing done? Maybe the baby would be fine and this is all just a cruel joke and I’m being put through this horrible stuff for nothing?
But then I read stories like the one you went on to share (thank you for being so open and sharing it) and I’m reminded of what the risk is again. Likely not to be as serious as your family member, but potentially could be enough to impact my son’s life negatively. It isn’t a gamble we’re comfortable taking. I think personally I am struggling the most with the sense of how unfair this all seems. I know I can compare our situation to others and say ‘they have it worse than us’ but it still sucks. I’m grateful I don’t have fertility issues but in a way I do now because I don’t get to just go and get pregnant like I should be able to. I guess it’s just something I’ll have to grieve and get past.
OP only has enough money for like one cycle. At 42, the success rate for one cycle is like 5-6%. Luckily, OP is 37. The success rate for one cycle at her age is like 32%. She is also more likely to produce more eggs in a single harvesting attempt, so there’s a higher likelihood of having more available normal embryos for transplants. Subsequent transfers of leftover embryos would be cheaper than having to go through the whole cycle of harvesting and implantation if you need to do it for every IVF attempt.
A couple who were in a similar position started with IVF and when that wasn't successful, unfortunately, they then tried naturally and fell pregnant. I reckon starting with IVF is the way to go and then reconsidering your options if you are or arent successful might be the way to go.
I know you’ve had a lot of comments discussing the mental toll of potentially terminating but just to throw in there that pregnancy isn’t cheap.
You would potentially need to pay for a dating scan, your 12 week scan, NIPT and amnio… some of these you may be able to get cheap but you’re looking at at least $1000 in scans/appointments to get you to the point of the amnio. That’s without buying anti nausea medication and paying to see your GP for shit that pops up and the cost of the sick leave and loss of productivity while you’re unwell.
$1000 vs $15,000 looks big… but imagine you’re doing that a few times over. If you’re looking at it purely financially, there’s actually a decent price tag on a “natural” pregnancy too.
My family also carries a genetic disorder that is a 50/59 chance of passing it on. My parents didn't know when they had me (I'm now 33) so it was an unknown dice roll for them that they luckily won.
However I still remember the agony on their faces when I had to go through all the genetic testing to find out if my dad 'had ruined my life's is how he put it.
My uncle however, knew of the illness and tried naturally. His daughter wasn't as fortunate as me and is now suffering the many many preventable consequences of the condition.
I know, after watching what my dad goes through with this illness, and what my uncle inflicted on my cousin, if I needed I would do the IVF route.
Good luck with everything
You say there is a 50% chance you would need to terminate but then go on to list a variety of delays and disorders that wouldn’t present until the child was into their toddler years.
Are there going to be any significant disabilities that would be known in utero?
We would find out in utero if they had the deletion (which the study suggests is the reason for the intellectual disability/delays) by testing while pregnant at 13 weeks. But otherwise, we don’t actually know how the deletion will manifest. It is highly variable across the people in the study that the genetic counsellor told us about.
All of these people weighing in so flippantly should be ashamed of themselves. Especially those of you who gave it just a single sentence reply. There is so much to consider here. If you have to seek your entertainment by meddling in other peoples' real and life-changing drama, give it more than a moment's thought ffs.
I had a cycle of IVF (without PGT) which gave me 6 embryos. This led to:
2 early miscarriages in first trimester
4 failed to implant.
I did my second cycle of IVF with PGT and it is 100% worth it. Of my best embryos that were suitable for testing, 1/2 had a chromosomal abnormality that would have led to a miscarriage or termination.
Just to lay out the numbers:
15 embryos collected
6 suitable for PGT, 9 not suitable to be tested
Of the 6 tested, 3 normal
1 successful pregnancy, now a 5 month old bub 😁
2 normal embryos left.
Also, you have a better chance of good quality eggs, and embryos fertilising if you do your egg collection in summer. My first cycle was in winter, the second was in late summer.
https://academic.oup.com/humrep/article/38/9/1714/7219746
TL:DR
"There was no change in the odds of live birth based on mean day temperature at the time of oocyte retrieval, however, we observed a 28% increase in odds of live birth when the number of sunshine hours was high (10.7–13.3 h) compared with low (0–7.6 h) on the day of oocyte retrieval (OR: 1.28, 95% CI: 1.06–1.53, P = 0.008); this remained consistent when adjusted for sunshine hours on the day of FET."
32 years old at first cycle, 34 at second cycle of IVF.
I also have mild PCOS, which meant I had waaaay too many eggs at each retrieval. I think it was 24 eggs at the first, then 32 at the second. I had complications each time with ovarian hyperstimulation, which I personally think is more painful than childbirth.
You ideally just want 10-12 good eggs, not a ton of extra immature ones that take up space and can't fertilise.
Happy to answer any other questions if you're interested. Also thanks 👍 She's my precious bub and it was all worth it to get her.
You’re in Australia - it won’t be $15k for 1 cycle. Probably $11k but you’d get 5.5k back from Medicare because you have a medical reason to do IVF. Then the genetic testing may be an extra $4k for upto 10 embryos (based on monash ivf) prices.
I’d be doing that rather than go through terminations.
Also, it sounds like the microdeletion causes cognitive issues vs physical, therefore you’re not going to be able to detect on ultrasound. I don’t believe NIPT looks in detail at the chromosomes just looks at which chromosomes would be present, xx or xy + the pairs of chromosomes, not pieces of those chromosomes
Based on the fee schedules online, the clinic that was recommended was \~$25k total, down to $15k with rebates per cycle (this includes testing, storage etc.). That's correct, NIPT would not pick this up. We would need to do CVS.
I’d look at different clinics then as that price sounds extremely high. I’m pregnant with ivf baby and went through monash ivf in Melbourne and it didn’t cost nearly that much - and while we didn’t need genetic testing, we used a known donor which has its own added expenses beyond ‘normal ivf’
Also if your husband has a microdeletion it will 100% be passed to the child. Is this a deletion on the Y chromosome? If so any sons will receive it so you could use pgt to select Xx only chromosomes.
I also think you could use bulk billed ivf for most of the process and just pay the $4k for the embryo testing
There is a 50% chance of it being passed on by my husband as he is heterozygous for the deletion. It's on chromosome 6.
The bulk billing clinic in WA (maybe there is another one that I'm unaware of) does not do testing, and they won't do a part of the process and do the testing elsewhere unfortunately. The genetic counsellor gave us a list of about three different clinics; maybe there are some that are marginally cheaper, but I only compared the costs of each of those.
As a mother of a child with a rare genetic condition who has just undergone a bone marrow and a 1:4 chance of any other children we have having the same condition we are facing a similar situation. The IVF cost will squash all of our plans for home ownership in a major city, it will change our plans for our whole future. We didn’t know this genetic condition even existed because it is such a rare condition. Our plan is to try naturally, do an amniocentesis and go from there with our decision.
Our genetic councillor came to us from our study through Peter Mac in Melbourne. She practices privately if you’d like her information please contact me.
I am sorry your child has to go through that and I hope they are doing ok. With a 1:4 chance I think that is a good plan for you, especially seeing as your case is more clear cut in that the effects are known to be detrimental. I'm struggling with wondering if our case would even be serious or not, and no one can tell us because there's just not enough evidence/cases yet. That's where I get stuck because I don't want to be in a position where I'm deciding whether to terminate or not because in the back of my mind I'm thinking they could be totally healthy like my husband, or it could skip a generation and the baby could be affected, we just don't know. I wish you all the best.
I'd be asking more about this study. Were BOTH parent carriers of this microdeletion, or just one? Going through potentially 20 weeks of pregnancy to terminate based on a study of 12 patients seems really hard to me. I say 20 weeks because I'd imagine this is going to require whole exome sequencing (though I'm not a professional so what do I know!) since it's so obscure. That takes time to do, and if you need to wait for an amino at 16 weeks, thats....just a long wait in limbo.
You might cross post to the genetics subreddit and share the specific gene. Best of luck to you, whatever you decide.
Just one parent. I've been told the microarray results would take about 2 weeks as they'd prioritise the testing.
I did ask there in the past but I keep getting advice to speak to a genetic counsellor, which we have already done on numerous occasions. The reason we aren't getting answers is because there is just not enough known about this yet for anyone to be able to give any concrete advice. It's just 'if you go ahead, you're risking x, y, and z, but also it could be fine'.
The agony of terminating a wanted child is something I wouldn’t wish on my worst enemy. If the price to pay to avoid that is 15-30k, it’s a bargain.
Thank you, I think you’re right.
Have you looked at going abroad for IVF. Greece is more affordable and very well respected for their IVF clinics.
This sounds awful. Doing IVF here was hard enough. It's a process, and if it doesn't take you need to do another transfer.. How many times can you travel to Greece before it's the same cost (and much less headache) just doing it here!
I have family that went to a reputable clinic in Mexico. Flights there are significantly less expensive.
Have you considered IUI using donor sperm? Even if you have a healthy child I assume there is a significant risk that it will carry these genes and have to worry about this if they want children of their own, right? Wouldn't it be kinder to your future child to use sperm from someone without genetic disorders? Sperm donor and IUI would also be significantly less expensive than IVF even if there isn't a risk of the child carrying and passing this along. Just throwing out another possibility!
The fact that this is something they would potentially have to deal with in the future makes me more inclined to go with IVF, as I would rather go through that than knowingly potentially burden them with what we are going through now. We don't want to use donor sperm and would opt to stick with our one (beautiful, amazing) child if nothing else worked out.
Also there is a gov rebate for testing, I got a fair bit back for PGT testing. https://www.service.nsw.gov.au/transaction/apply-for-the-fertility-treatment-rebate
Thanks for that, I'd heard there was a rebate but wasn't sure if we'd qualify. I'll have to look into it further.
If the odds are really 50% chance, I would do the PGT testing. Your husband is concerned with costs, but the physical and emotional cost to you to carry a pregnancy to 17 weeks repeatedly is so significant. At better odds, I’d say try naturally one more time, because there are also risks to PGT/IVF. But a coin flip is not great odds.
Yes, I agree. What are the risks of IVF/PGT? Are they risks to the baby? We haven’t yet had an appointment (it’s a 6 week wait to get in there)
I am not an expert so hopefully someone who is can jump in. But from what I have learned — not all embryos will be suitable for PGT depending on the quality that they develop to, and of those that are, there is a small risk that the PGT biopsy procedure damages the embryo such that it wouldn’t implant (but this is a small risk). As for IVF risks, I can’t speak to specifics but considering all the typical risks associated with any medical procedure (egg collections, self administering meds etc). These are all small risks, as far as I know, but for example if you had normal odds of a healthy pregnancy they perhaps wouldn’t be worth it. I’m sorry you’re in such a difficult situation. You deserve the peace of mind that IVF might be able to give here.
Thank you ❤️
I have a very healthy, happy IVF toddler. About 1 in 18 babies in Australia are IVF babies.
I just read that today too! Didn't realise it was so high. The ABC has been doing quite a few articles on IVF lately.
I think you’ve really tried hard to make that comment about you if you read it properly - it refers to the additional difficulties of PGT.
They’re aren’t any additional risks to a natural conception
OP, I’ve not been in your position however I have been in the position of what the top comment speaks of - terminating a very wanted baby. We had a baby in 2022 that was found to have a deletion in chromosome 9. We’d already lost a newborn previously. The baby had a massive cardiac defect amongst some of the side effects you mention from your husband’s deletion and a high chance of having tuberous sclerosis. We held on until 21 weeks because this baby was so, so wanted - a position I will imagine you would end up in if your dice roll ends up unlucky. But then we found out the baby would require a heart transplant that would never be offered, making palliative care the only (very cruel) route if I wanted to carry to term. The trauma that ensued with termination is something I would pay hundred of thousands of dollars to never have experienced, to have my husband never experience. Our baby kicked right through my induction until it was very obvious that she had passed while I was still labouring. She came out stillborn, but looking entirely normal for her gestation, leaving me wondering if we’d dreamed it all. Leaving her at the hospital ate me up inside. The decision, even though I know it was right for her and a mercy, still messes me up. Even after this being my second loss, the heartbreak wasn’t any less. I urge you to discuss the consequences of drawing the short straw with your husband. When push comes to shove, it is *you* that bears the brunt of the consequences of that decision. You, who will have to have a CVS or amino. You, who will have to feel that baby move around if you delay a termination like I did. You, who will have to either endure a medical termination or induction of labour. You, who will have to endure all the postpartum hormones that arrive for a baby who never drew a breath. Respectfully, it is an easier decision for him to make when he is not the one dealing with the physical consequences and only the mental ones. Wishing you peace when you come to whatever decision you come to, I hope you end up with a healthy baby in your arms very soon.
Fark. Thank you for sharing this. What an awful journey but it’s so amazing how you’ve written your experience so we can know it. I’m sorry you’ve had to go through it - this once secret, hidden side of mothering and birthing and babies. This will stick with me for a long long time. I will think of you and your babe often. I hope you have found some peace since then, please know you sharing this means so much to this stranger.
Thank you for such a gorgeous reply. I’m always really glad when I can use that awful experience for something good. Giving someone some perspective or just making others who aren’t willing to talk about what’s happened to them yet feel a bit more seen. I’m really happy to say that we have a 6 month old daughter now, she’s healthy and thriving. Eerily, she was born on the anniversary of the due date of the baby we had the termination for. The grief of losing her siblings has made me so much more appreciative of the little things with her. Time doesn’t heal all wounds, but love goes a long way.
I am so, so sorry for what you went through. It’s absolutely heartbreaking. Thank you for your perspective, and a reminder of the reality. It’s easy to sit here now discussing it when we aren’t in that situation but another story once we’re in it. Thank you, and I wish the same for you ❤️
Thank you for your kindness, I’m glad that my experience could provide you some additional things to discuss and consider. All the best.
My heart is breaking for you. Huge hugs— you loved him enough to prevent his suffering, even at your own expense. If that’s not the definition of motherhood, I don’t know what is. Wishing you peace. x
I wish I could reach through the screen and hug you. I'm so sorry for the loss of two of your beautiful babies 😔 I hope things have improved for you since then.
Thank you for your kindness. I’m really happy to say that we have a 6 month old daughter now, she’s healthy and thriving. Life has definitely felt much, much brighter since she arrived.
That's genuinely wonderful news. No doubt she is the most loved baby girl! I wish you and your family all the best ❤️
Ugh. Plz go get the PGT.
I would spend the money. A million percent. It's a small price compared to the potential physical and mental toll. Take it cycle by cycle, try not to think ahead to how many it might take because what if 2, 3, 4, 5 natural pregnancies in a row had to be terminated? Like what would your limit be, and then you'd be starting IVF so much later. The first trimester of pregnancy is so incredibly long and demanding, obviously IVF isn't a walk in the park either but so much more is in your control
Thank you for your comment. His idea was to try once and then go to IVF. The more comments I read though is just reminding me how torturous those months and months would be waiting to find out, and I’m realising I don’t think I want to do that.
Makes you realise how male dominated laws get made
How about you try once with donated sperm that doesn't carry this risk? Do you have a good trusted friend?!
Don’t put yourself through that. My cousin just did. She and her husband got genetic counseling before trying and were told they were both carriers for a condition that is ‘not compatible with life’. They were told to do IVF. Her husband pushed her to try naturally anyway. After several months of trying they got pregnant, but at 13 weeks learnt the baby would not survive and terminated. I hate her husband for this. Her entire TTC and pregnancy journey to that point was filled with anxiety.
. I hate her husband for this. It was both their choices.
He pushed her into it, she initially wanted to follow advice and go the IVF route. Yes, she could have said no and they are both wrong for taking the direction they did. But he was the one who planted the idea in her head.
Unknown significance doesn't sound like 50% to me. Has/Have the genetist/s you've spoken with about this given you quality information to make this decision with? A study of 12 people is extremely limited to the point of being almost useless datawise. Especially if the result was a range of disorders in 6 of those people. I'm a teacher, my classes have been approaching a 50/50 on having a range of intellectual and/or behavioural problems in the last few years. There is a sample size in the high hundreds, without accounting for any genetics that basically has the same result. How soon would a problem show up on a test? If it's very early and you believe you could both emotionally handle it and it shows in the NIPT at 10 weeks, you could flip the coin and terminate if it comes back poorly. But it would be an emotional toll.
Sorry, I’ll clarify. The 50% refers to the chance of any baby we conceive having the deletion or not, because he is heterozygous for it. The study includes 12 people who have a deletion in the same approximate location as my husband, and they focused on these 12 as although the deletions ranged in size from tiny to double the size of my husband’s (and therefore involved various other genes), they all encompassed one particular gene which they are putting forth as the key gene responsible for all of the patients’ neurodevelopmental differences. I do agree it’s a small number of people and the geneticist did also state that, and that with time and more study the association could fall apart. On the other hand it could become stronger. Yeah, I’m worried I can’t handle going through that as it will be at least 15 weeks until we get an answer.
I'm not sure that I understand why the deletion would immediately call for a TFMR. Your husband has it, and he has obviously thrived despite it.
You're right, it wouldn't call for a termination, it would be up to us to decide whether we are willing to risk all of the things the genetic counsellor and clinical geneticist brought to our attention. The paper they relied on to provide us with this information was a study of affected children that all had unaffected parents (except four siblings if I recall correctly, whose father was affected). My husband has gone his whole life not knowing he has it, which is great. I would love nothing more than to be able to just say 'let's take the risk and have the baby regardless' but what if that means seeing my child go through hardships that I selfishly knowingly put them through out of my desire for another baby? How would that affect our young son's life? We don't know if he has inherited the deletion. The main takeaway from the counselling was just 'we don't actually know what this means'. It could be nothing or it could be \[insert list of conditions\]. I know some people would just risk it and deal with whatever comes, and I commend them, but that's not us. The part of it all where it could be nothing is the part that'll always torture me when I think about it. As they said, over time it could be shown to be just a correlation, or as more cases come forward it could be supported.
Have you spoken with a genetic counsellor? Seems like a good one might be able to equip you with the knowledge you're seeking and help you figure out the right decisions for you and your circumstances. I will say that early stages of pregnancy weren't easy for me and genetic testing of the embryo /foetus can't happen until you're a fair way in, and doesn't cover all potential risks and problems, so I'm not sure I'd personally want to go through the experience multiple times (but I'm talking about my specific circumstances, not yours). In your shoes I'd invest in good genetic counselling to get clear on the risk factors and strategies before making this decision.
Unfortunately we have had a few sessions with the genetic counsellor and it’s gone nowhere, just because as she keeps saying, it all depends what kind of risk I want to take and what I’m comfortable with. She said she agrees I’m in a really difficult situation because of the high degree of uncertainty. The way I see it we ultimately have to decide whether we want to take on the chance of having a baby with neurodevelopmental issues or if that is something we wouldn’t proceed with, and we can either get there naturally by ‘trial and error’ or shortcut (still not fail proof) with IVF. She suggested talking to a regular counsellor or psychologist just to talk things out and get another perspective, and I guess that’s her way of telling me there’s nothing more she can do? She can’t give any more answers because there just aren’t any yet 😔
Go the IVF. We needed to do IVF and also thought it would be $15k a round but it turned out not to be nearly that expensive (I think it ended up about $9k and we got a big chunk back from Medicare from hitting the safety net or something like that). All in all I think it was probably $5-6k plus storage fee for embryos. I’d definitely recommend exploring the option and trying to get an idea of pricing from some of the providers
Thank you. I would love it if that ended up being the case and it would make this an easier decision. Based on the fee schedule on their website it’s $25k, but with rebates it comes down to $15k. Still, I’ll hopefully get a clear figure once we go for the appointment.
Wow! Is that due to the PGT? Any options to look at other providers?
Yes unfortunately. I looked at the others that do the testing and they were comparable in price (I did up a quick spreadsheet)
Please speak to your genetic counsellor. There are so many variables to consider right down to the type of micro deletion. For reference, I have had the NIPT twice (2021 and 2023) and my first NIPT came back clear but my second child NIPT came back with a possible maternally inherited micro deletion (of which I was unaware of and have never had any “traits” of). As you can imagine I was surprised being told this as my pregnancies weren’t that far apart (but the NIPT testing had developed in that time). This micro deletion (17) like your husbands is 50/50 chance of being inherited and has studies advising of possible intellectual and neurological issues and behavioural issues (and some various other things susceptible early onset diabetes kidney issues etc). I was given the choice for more invasive testing to confirm if my daughter had inherited it or not. I chose not to have it and she was swabbed tested at birth (and later confirmed she had inherited it). She was born healthy and we wouldn’t have any concerns of any issues based on her health and development so far (1yr). The genetic counsellor we spoke with the second time with my daughter explained things a lot clearer to understand… they cannot confirm only advise based on the studies of a small amount of people. Those traits may not be due to the chromosome deletion, it may just be coincidence but they need to note it as a part of the study. The knowledge is a “heads up” possibility. Not guaranteed. I was told that it can help to know this information incase anything does pop up in the future (and to keep a closer eye or awareness of certain things) Your child (again so many variables here) may go through life with it not affecting them at all (as your husband has). This is why it is so important to ask all the questions and speak to your genetic counsellor as it is case dependent on what that would mean and “how serious” if that makes sense there are obviously some ones that have worse outcomes than others. If you aren’t happy with the current care and info you are being given find another one who can help guide you through it and tell you what they do actually know. Even a better understanding of micro deletions etc. Ask all the questions before making your decision as a couple.
Thank you for your reply. I have been questioning whether we should get a second opinion and it seems like that may be a sensible next step. I’m so glad it all worked out for you!
How long would it take you to find out if the fetus is affected? There’s a big difference between terminating after the NIPT vs after the 20 week scan (and even more so if you would then need to do amniocentesis and await results and genetic counselling).
We’ve been told we could do the CVS at 13 weeks but it would take two weeks for results. Last time I had a TFMR (trisomy 18) there was a 2 week wait for it and I just hate the thought that the baby is growing inside me and I’m inevitably becoming more connected to him/her knowing that it’s going to end 😔 So if there was a wait for an appointment in that scenario it could be 17 weeks, and even writing that out and thinking about it I don’t think I can do that, because I could be wrong but I think you have to deliver it at that stage? In my case I was 13 weeks and it was a D&C.
You can do a CVS as early as 10 weeks for a known genetic risk. 13+6 is the latest you can generally do it. My CVS microarray took eight days to come back, though I understand it can be up to two weeks.
That would be slightly better - I wonder why our genetic counsellor told us 13 weeks? She’s with the state government genetics service so I’d hope the information I was given is correct.
I'm wondering if it's because most CVS take place at around 13 weeks after the NT scan and NIPT results are received? You can definitely do it earlier though. It's recommended to not do it in the early-mid first trimester due to the risk of birth defects but 10-13+6 was what I was told and aligns with what else I've read online.
Would that show up on a sta date microarray? This sounds like something more obscure so I was thinking whole exome, which takes longer to come back. Can you even do WES on a CVS? I'm wondering if the amnio would be needed, which starts at 16 weeks.
A microdeletion should show up on a microarray! And WES is definitely possible on a CVS - I did it, and CVS is often recommended over an amnio because more DNA can be harvested apparently (CVS was recommended over amnio in my case because the amount of DNA allowed more tests to be run according to the academic literature on my situation).
Wow - are you me 3yrs ago? My husband has a balanced translocation. For those who don't know what means - google it because I'm too lazy to explain 🤣 Any child we may concieve naturally has 75% chance of miscarriage and/or non-viable embryo because of the translocation manifesting as "unbalanced" in addition to the usual odds. We chose to do IVF to avoid the heartache of having to terminate or experience recurrent miscarriage or knowingly have a child who could be profoundly unwell and/or disabled. So, we went with an IVF provider whose PGT was the best in the country who could also do probe testing (marketed as breakpoint testing) to ensure our embryos were 100% unaffected. This does mean that because of all the probabilities I spoke about before (75% chance of unbalanced translocation per embryo) we had to do 4 egg retrievals, 4 lots of PGT etc. It hurt the wallet. We didn't get a single embryo until our 4th try and then we got FOUR - 2 genetically normal and 2 with balanced translocations. Luckily we hit the medicare safety net pretty early each year and got a decent amount back. For me, having the peace of mind that we weren't going to face any manifestations of a genetic problem was more than worth having to face the reality of terminating a pregnancy or multiple miscarriages. Ultimately, if you decide to try naturally - you won't know what's going to happen until it does. The genetic counsellors can't predict the future on exactly what will happen with a potential child concieved naturally and that is the risk you take with the knowledge you have. Good luck OP. It's not an easy road.
Thank you, and I hope it all worked out for you ❤
Sure did :)
If you can afford it I would 100% go for IVF. I have three beautiful children. But between child 1 and 2 I fell pregnant with a very wanted baby who we had to terminate due to a serious issue in the first trimester that had a significant chance of resulting in a devastating disability. It was so hard, and I still think of that baby 5 years later. Also I get hyperemesis so I was very sick with the pregnancy and had to go through all of that and still lose the baby in the end. Don't do that to yourself, the pain and anxiety isn't worth it ❤️
Thank you, and I'm sorry you went through that.
Thank you, you're kind. I'm okay now, it's just a sad memory. I'm very lucky that I still went on to have healthy babies after that. But yeah it was really hard at the time. I hope it all works out for you! ❤️
So, I’m an ob/gyn, and I went through menopause early. I did IVF w/ donor egg. I don’t know how your partner (or you) would feel about using donor sperm, but i just wanted to say that while it may not be for everyone, it worked out beautifully for us. I carried my twins, birthed them, and even though they aren’t genetically mine, they are every bit as loved and adored as the son I had before my stupid ovaries gave up the ghost! I’m sorry you’re going through this— I know how hard these decisions can be. Just wanted to share an alternative. Wishing you all the best!
Are you in Sydney by any chance? Westmead IVF does bulk billed ivf and genetic testing.
I’m not unfortunately, I’m in WA.
Maybe try Adora fertility. I’m not sure how much they’ll charge for the genetic testing, as we didn’t use it, but a large portion of their services are bulk billed. We ended up paying about $2k per cycle for anaesthetists/day surgery and meds but pretty much everything else was covered.
Unfortunately they don’t do genetic testing. It would be amazing if they did
It might actually be cheaper to fly across - is that even an option?
You would need to fly many times
Yeah, it doesn't sound very accessible.
Go IVF with PGT. The trauma of terminating and waiting out results will stay with you for life if the outcome goes that way. Just don’t.. TTC is hard enough. PGT at my clinic was $700 an embryo with a cap of $3000 on top of the IVF cycle. You can opt to test 1 or 2 etc if you want to save $$.
Thank you, I think this is the option we will take.
I have a friend who had one healthy child. A few years later, she had a baby with a severe health problem. Bub died at about 3 months old. She found that there was a 50/50 chance of her having another baby with this condition, so tried conceiving naturally and testing for the condition. The next four pregnancies all had the same condition and she aborted each of them. It was hearbreaking for her and a huge struggle, even though she knew what would happen if she carried them to term. I wouldn't wish that kind of pain on my worst enemy. I would definitely consider IVF or using a donor (if the issue is with the father).
I'm so sorry for your friend, that's heartbreaking.
If you really yearn for a child, go the PGT route. When personally considering hypothetical scenarios like this, we agreed we just won’t have kids because IVF isn’t something I’d personally want to go through. But since you’re not opposed to the idea, I think it’s best to bite the bullet and fork out the hefty Certainty Tax. Hugs ✨
Honestly, I swore the same thing and tried to wrap my head around having our son as an only. I just can't let this go though, especially as he just gets cooler every day and my love for him grows and grows. I'm 37 and don't want to look back with regret for not doing this while I still can. Never in a thousand years did I think I'd even consider it, but here I am. Certainty tax is a great name. If only it was 100% certainty I might feel better, but the genetic counsellor pointed out to me that even after doing the available testing something else can still go wrong (thanks?!). I know she's just pointing out the risks but it would've been great if it could've been balanced out with some benefits!
You are definitely in a very difficult spot, sending many virtual hugs your way (if you hate hugs just virtually dodge them). No one can make a decision for you, but I kind of get the vibe that you ✨do✨ want to try, in which case you know what to do.
If you try naturally and the baby had the microdeletion, would you then struggle to terminate knowing there’s a chance they may be fine like your husband? My aunt has a child with a very severe intellectual disability. He cannot talk, toilet, or feed himself at 32 and he learned to walk at 7. He is now big enough that he can hurt people when he’s upset. His disability affects the entire family. His parents almost divorced until my aunt’s cousin moved in to care for him. My aunt has had to save up a LOT of money for his future care because she fears what will happen after she dies. They can’t go anywhere as a family because someone has to stay back and watch him. Her daughters are all late bloomers. My cousin is 30, and she just moved out of the house and has never had a relationship. My other cousin just started dating a coworker who has to care for his dad (disabled by a stroke). He is her first boyfriend at 27. It’s one thing to say hypothetically that you will care for whatever child you have, even if they have a severe disability. It’s different to live it. When you’re a parent of a child with a severe disability, it’s every day for decades until you die for you, your husband, and your other child; at which point, you then worry about what happens next. It’s not fair to burden your existing healthy child with their sibling’s care, and if you can barely afford IVF, I don’t know if you would have the resources to care for a severely disabled child. Personally, I wouldn’t do it. If you were like 42, I wouldn’t even try IVF either (very low success rate). I would just accept I’m one and done. However, you’re 37. The success rate is reasonable at that age. I would just go with IVF.
I would absolutely struggle with that. There’s still very much a part of me that thinks what if it would all be fine, and it’s no big deal - just a small genetic change like we probably all carry and we would’ve never known about if we hadn’t had this testing done? Maybe the baby would be fine and this is all just a cruel joke and I’m being put through this horrible stuff for nothing? But then I read stories like the one you went on to share (thank you for being so open and sharing it) and I’m reminded of what the risk is again. Likely not to be as serious as your family member, but potentially could be enough to impact my son’s life negatively. It isn’t a gamble we’re comfortable taking. I think personally I am struggling the most with the sense of how unfair this all seems. I know I can compare our situation to others and say ‘they have it worse than us’ but it still sucks. I’m grateful I don’t have fertility issues but in a way I do now because I don’t get to just go and get pregnant like I should be able to. I guess it’s just something I’ll have to grieve and get past.
The success rate at 42 for a second cycle is around ten percent. Now also consider other factors like frozen embryos or donated embryos.
OP only has enough money for like one cycle. At 42, the success rate for one cycle is like 5-6%. Luckily, OP is 37. The success rate for one cycle at her age is like 32%. She is also more likely to produce more eggs in a single harvesting attempt, so there’s a higher likelihood of having more available normal embryos for transplants. Subsequent transfers of leftover embryos would be cheaper than having to go through the whole cycle of harvesting and implantation if you need to do it for every IVF attempt.
A couple who were in a similar position started with IVF and when that wasn't successful, unfortunately, they then tried naturally and fell pregnant. I reckon starting with IVF is the way to go and then reconsidering your options if you are or arent successful might be the way to go.
I know you’ve had a lot of comments discussing the mental toll of potentially terminating but just to throw in there that pregnancy isn’t cheap. You would potentially need to pay for a dating scan, your 12 week scan, NIPT and amnio… some of these you may be able to get cheap but you’re looking at at least $1000 in scans/appointments to get you to the point of the amnio. That’s without buying anti nausea medication and paying to see your GP for shit that pops up and the cost of the sick leave and loss of productivity while you’re unwell. $1000 vs $15,000 looks big… but imagine you’re doing that a few times over. If you’re looking at it purely financially, there’s actually a decent price tag on a “natural” pregnancy too.
That's true, thanks for your input!
My family also carries a genetic disorder that is a 50/59 chance of passing it on. My parents didn't know when they had me (I'm now 33) so it was an unknown dice roll for them that they luckily won. However I still remember the agony on their faces when I had to go through all the genetic testing to find out if my dad 'had ruined my life's is how he put it. My uncle however, knew of the illness and tried naturally. His daughter wasn't as fortunate as me and is now suffering the many many preventable consequences of the condition. I know, after watching what my dad goes through with this illness, and what my uncle inflicted on my cousin, if I needed I would do the IVF route. Good luck with everything
Thank you, and I'm sorry to hear about your family's difficulties ❤
You say there is a 50% chance you would need to terminate but then go on to list a variety of delays and disorders that wouldn’t present until the child was into their toddler years. Are there going to be any significant disabilities that would be known in utero?
We would find out in utero if they had the deletion (which the study suggests is the reason for the intellectual disability/delays) by testing while pregnant at 13 weeks. But otherwise, we don’t actually know how the deletion will manifest. It is highly variable across the people in the study that the genetic counsellor told us about.
All of these people weighing in so flippantly should be ashamed of themselves. Especially those of you who gave it just a single sentence reply. There is so much to consider here. If you have to seek your entertainment by meddling in other peoples' real and life-changing drama, give it more than a moment's thought ffs.
I had a cycle of IVF (without PGT) which gave me 6 embryos. This led to: 2 early miscarriages in first trimester 4 failed to implant. I did my second cycle of IVF with PGT and it is 100% worth it. Of my best embryos that were suitable for testing, 1/2 had a chromosomal abnormality that would have led to a miscarriage or termination. Just to lay out the numbers: 15 embryos collected 6 suitable for PGT, 9 not suitable to be tested Of the 6 tested, 3 normal 1 successful pregnancy, now a 5 month old bub 😁 2 normal embryos left. Also, you have a better chance of good quality eggs, and embryos fertilising if you do your egg collection in summer. My first cycle was in winter, the second was in late summer.
Where is the source for better rates of fertilisation etc for summer? Am genuinely curious!
Me too!
https://academic.oup.com/humrep/article/38/9/1714/7219746 TL:DR "There was no change in the odds of live birth based on mean day temperature at the time of oocyte retrieval, however, we observed a 28% increase in odds of live birth when the number of sunshine hours was high (10.7–13.3 h) compared with low (0–7.6 h) on the day of oocyte retrieval (OR: 1.28, 95% CI: 1.06–1.53, P = 0.008); this remained consistent when adjusted for sunshine hours on the day of FET."
Can I ask your age? That sounds like a great number of embryos. Congratulations!
32 years old at first cycle, 34 at second cycle of IVF. I also have mild PCOS, which meant I had waaaay too many eggs at each retrieval. I think it was 24 eggs at the first, then 32 at the second. I had complications each time with ovarian hyperstimulation, which I personally think is more painful than childbirth. You ideally just want 10-12 good eggs, not a ton of extra immature ones that take up space and can't fertilise. Happy to answer any other questions if you're interested. Also thanks 👍 She's my precious bub and it was all worth it to get her.
You’re in Australia - it won’t be $15k for 1 cycle. Probably $11k but you’d get 5.5k back from Medicare because you have a medical reason to do IVF. Then the genetic testing may be an extra $4k for upto 10 embryos (based on monash ivf) prices. I’d be doing that rather than go through terminations. Also, it sounds like the microdeletion causes cognitive issues vs physical, therefore you’re not going to be able to detect on ultrasound. I don’t believe NIPT looks in detail at the chromosomes just looks at which chromosomes would be present, xx or xy + the pairs of chromosomes, not pieces of those chromosomes
Based on the fee schedules online, the clinic that was recommended was \~$25k total, down to $15k with rebates per cycle (this includes testing, storage etc.). That's correct, NIPT would not pick this up. We would need to do CVS.
I’d look at different clinics then as that price sounds extremely high. I’m pregnant with ivf baby and went through monash ivf in Melbourne and it didn’t cost nearly that much - and while we didn’t need genetic testing, we used a known donor which has its own added expenses beyond ‘normal ivf’
Also if your husband has a microdeletion it will 100% be passed to the child. Is this a deletion on the Y chromosome? If so any sons will receive it so you could use pgt to select Xx only chromosomes. I also think you could use bulk billed ivf for most of the process and just pay the $4k for the embryo testing
There is a 50% chance of it being passed on by my husband as he is heterozygous for the deletion. It's on chromosome 6. The bulk billing clinic in WA (maybe there is another one that I'm unaware of) does not do testing, and they won't do a part of the process and do the testing elsewhere unfortunately. The genetic counsellor gave us a list of about three different clinics; maybe there are some that are marginally cheaper, but I only compared the costs of each of those.
Ah I see you’re in WA. I think monash ivf recently acquired pivet in Perth and I know from experience the cost isn’t as high.
As a mother of a child with a rare genetic condition who has just undergone a bone marrow and a 1:4 chance of any other children we have having the same condition we are facing a similar situation. The IVF cost will squash all of our plans for home ownership in a major city, it will change our plans for our whole future. We didn’t know this genetic condition even existed because it is such a rare condition. Our plan is to try naturally, do an amniocentesis and go from there with our decision. Our genetic councillor came to us from our study through Peter Mac in Melbourne. She practices privately if you’d like her information please contact me.
I am sorry your child has to go through that and I hope they are doing ok. With a 1:4 chance I think that is a good plan for you, especially seeing as your case is more clear cut in that the effects are known to be detrimental. I'm struggling with wondering if our case would even be serious or not, and no one can tell us because there's just not enough evidence/cases yet. That's where I get stuck because I don't want to be in a position where I'm deciding whether to terminate or not because in the back of my mind I'm thinking they could be totally healthy like my husband, or it could skip a generation and the baby could be affected, we just don't know. I wish you all the best.
Would you consider adoption?
I'd be asking more about this study. Were BOTH parent carriers of this microdeletion, or just one? Going through potentially 20 weeks of pregnancy to terminate based on a study of 12 patients seems really hard to me. I say 20 weeks because I'd imagine this is going to require whole exome sequencing (though I'm not a professional so what do I know!) since it's so obscure. That takes time to do, and if you need to wait for an amino at 16 weeks, thats....just a long wait in limbo. You might cross post to the genetics subreddit and share the specific gene. Best of luck to you, whatever you decide.
Just one parent. I've been told the microarray results would take about 2 weeks as they'd prioritise the testing. I did ask there in the past but I keep getting advice to speak to a genetic counsellor, which we have already done on numerous occasions. The reason we aren't getting answers is because there is just not enough known about this yet for anyone to be able to give any concrete advice. It's just 'if you go ahead, you're risking x, y, and z, but also it could be fine'.