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la di dah

AC journey genetic testing

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la di dah

Hi everyone,

I'm a complete noob to this subforum. Please bear with me.

The basis of our journey at this time is not infertility but incompatibility in that we each carry a particular recessive gene so any child we conceive naturally together has a 1 in 4 chance of an incurable condition kills them before they are 3.  We only found out when our son was 14 months and diagnosed with the lethal condition. 

Therefore our focus would be testing so that before implantation we know they don't have it. 

Has anyone done genetic testing on zygotes for IVF? Does anyone know what it costs in Australia? We are in NSW.

I'm sorry for dropping this here I have only worked up to asking now.

If either of us had a child with a non-carrier the child would not have more than 1 copy of the gene and would thus not have the disease. But the donor would still have to be tested as I mentally am not capable of risking even infinitesimally small likelihood of having another baby with this.

Thank you for any insight or experiences with testing and costs. Or any experience with what it's like during covid. I know I have to actually call fertility clinics but it's all weird.

Edited by la di dah
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IamOzgirl

Hi la do dah. 

welcome to the AC sub forums. I’m glad you found the courage to post. 

I think your best bet is to start with genetic counselling and maybe an appt with an FS. 
 

I am about to do and egg pick up with non invasive PGT testing. Which is not as detailed, however my self and my donor have no genetic issues. 
 

so it will just be chromosomal issues I believe (I’m a little bit confused myself lol) 

this testing is only $400 each embie  

 

then there is PGS or PGD testing which might be what you are after which is much more expensive but has a cap of about $5000. 

all of the above tests are acupuncture conducted overseas and so there is a long wait. 
 

the process is. IVF with egg collection. Your eggs are fertilised and grown to day 5 they are then biopsied (matter sent OS for testing) and your embryo’s are frozen until the results are received. TheN you would have one of the non affected embryos transferred back to you At the right time in your cycle. 
 

After a bit of back and forth The government has agreed that fertility treatment can go ahead in all states I believe.  However there are sometimes restrictions on if your partner can be present or not. 

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Living Type

La di dah - does your son have a genetic specialist? Have you seen a genetic Counsellor? My first born has a recessive condition and the genetic Counsellor at the public hospital helped us immensely with the way forward to conceive a healthy child. 

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IamOzgirl

Actually I am reading my forms and there is an option of PGT-M which they say is for known genetic issues. So I’m guessing that is what you need. 
 

ETA I see you are in NSW, Sydney? 

Edited by IamOzgirl

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IamOzgirl

I conceived Jack via WFC this is their website on fees. although PGT isn't listed. 

 

testing.JPG

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IamOzgirl

Actually just found another key word 🙂 (let me know if you want me to email my forms to you to look at.) 

 

google Karyomapping (which is above mentioned PGT-M testing)

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la di dah

My son doesn't have a genetic counselor really. He's got a number of medical teams involved and we had a genetic meeting but it was really just a conversation about how two normal healthy people each had one copy of a gene where two copies kills you.

We tried to ask about process and counseling for a next child and the counselor was literally like "call the clinic and ask" and then was like "if you don't want to pay for IVF you can try and conceive naturally and then abort in the second trimester if it has it." Which is not something I could cope with, at all, for a bunch of reasons.

Thank you IamOzgirl. Five thousand isn't easy but it's measurable and it gives me an idea. I really appreciate it.

Edited by la di dah

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IamOzgirl
20 minutes ago, la di dah said:

We tried to ask about process and counseling for a next child and the counselor was literally like "call the clinic and ask" and then was like "if you don't want to pay for IVF you can try and conceive naturally and then abort in the second trimester if it has it." Which is not something I could cope with, at all, for a bunch of reasons.

Thank you IamOzgirl. Five thousand isn't easy but it's measurable and it gives me an idea. I really appreciate it.

Yeah thats not help counselor.. wow! 

So with the $5000 that is on top of the IVF round which for Westmead is approx $2500 OOP. The testing is more expensive if you only have a few eggs. but overall I think the total cost via WFC is lower than IVFA or Genea. But let me look at them. 

Most clinics have information nights - maybe try to attend one of those. you shoudl be able to ask question about testing their. A friend of mine went to one (because she has a genetic issue they are both carriers for). 

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IamOzgirl

Here is a better link https://www.ivf.com.au/treatments/preimplantation-genetic-testing-pgt/pre-implantation-genetic-testing-with-karyomapping

note "At IVFAustralia the cost of PGT with Karyomapping for single gene disorders is $1640 for the preliminary evaluation plus $700 per embryo biopsied with a maximum fee of $2460 for 6 or more embryos from a single IVF cycle."

however a cycle with them cost about $6k andI  believe a FET fee on top of that.

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Wonderstruck

Hi OP.

We did IVF with PGD at Genea has my husband has Huntington's Disease. It is a dominant condition so we had a 50% chance of any kids having it each time. So every time/every embryo it's like flipping a coin. Hence we have never tried naturally.

We started our IVF with PGD journey late in 2015. We chose a FS and saw him. He arranged fertility testing and the clinic arranged genetic counselling and explained the process. They also arranged general counselling too. Our clinic had an info night which was helpful. 

During the testing process they took our blood to make our test to use on the embryos. That might have been a few thousand out of pocket but I can't remember as it was so long ago. 

Then when all was ready we commenced an IVF cycle in early 2017. My FS explained as the hit rate was so high 50/50 and I was pretty young (27/28) we would go for lots of eggs so I'd be very close to over stimulation. 

So that month I had the hormone injections and monitoring for a few weeks. Once the eggs were ready they were collected via light sedation. I was awake for that. We had 22 eggs collected. 19 fertilised and 12 made it to day 5/6 genetic testing. They were biopsied and frozen.

We had them tested for the disease and to ensure they were chromosomally normal. About 3-4 weeks later we found out we had 5 normal and healthy embryos. 

A month later I did a frozen transfer cycle. That first one didn't stick. The second one I did a month later is my 3.5 year old. 

Then earlier this year we did another frozen transfer. The first didn't take and the second is due in November. That means we have one embryo in that batch still frozen. 

Costs vary. There are usual IVF costs plus genetic testing of embryos and the frozen transfer and storage fees. We were lucky to to lots of healthy embryos in that cycle. 

To Put it into perspective for us. 6 of the 12 tested embryos tested positive for the disease so while expensive we would do it again in a heartbeat. 

https://www.genea.com.au/costs

Happy to answer any questions you may have. 

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la di dah

Thank you for the link and info. 

I am kinda in and out as I process and of course focus on my DS but I really appreciate it.

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Soontobegran

No help with your question but I have been thinking of you both and your little guy.

Good luck.

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IamOzgirl
20 hours ago, la di dah said:

Thank you for the link and info. 

I am kinda in and out as I process and of course focus on my DS but I really appreciate it.

Take your time. Or stories are a bit different but for me I needed to have all my ducks in a row and then when you are ready to go you can jump on it. It can be quite a process. my advice (which you can take or leave) is to start appt etc with clinics, sooner rather than later - and then when you are ready you can go straight into it - without months of appts. 

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la di dah
15 hours ago, Soontobegran said:

No help with your question but I have been thinking of you both and your little guy.

Good luck.

He's still with us, 21 months old. He still smiles and cuddles. But they don't think it's long now. He's such a little sweetheart. It sounds weird but with him being so little it's a comfort he is thought of by many people. Thank you. ❤️

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Jelly11

I did IVF with PGD due to being a fragile x carrier. We needed to start with a genetic counsellor who did a referral letter for us (though I think we still needed a gp referral) then went through the ivf clinic. We had to have a phone appointment with a geneticist as well prior to getting started. I'm not sure if it would be the same in your scenario but they had to create a personalised test which involved blood work for me and my partner as well as cheek swabs from my parents (awesome when you weren't planning on telling them about the ivf). I can't remember costs but there was a cost involved with the lab work to create the test which was either all or partly covered by government in Tas. Then a few hundred per embryo tested. In the end we had 2 egg collection cycles, 9 embryos tested, one transfer (my DD) and it cost about $15000 out of pocket.

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MissHLH

La di dah - I would really encourage you to talk to a counsellor. Depending on the issue they might need to identify the causative gene and that could take a little while.  For me I was sent to screen for a genetic issue and we checked for the 10 most common genes and none were the mutation that causes my problem.  I was then sent for further testing and unfortunately we were never able to identify the causative mutation (for my problem I fall into the 0.1% where the gene defect can't be identified).  So it would be worth having a chat and then be checked to identify the gene defect.  The IVF clinic should be able to help you set this up.

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foxbread

^^ that might depend on the rareness too. A decade ago when our DS was first diagnosed, the test for his particular lottery win could only be done in the US. But it's now available in an Australian lab too, which means that testing embryos before implantation, or the foetus in pregnancy, are options for us.

I'm still not sure I want to go again, we keep umming back and forth, and it's almost 5 years since DS died. If you haven't already, I'd recommend going to your GP and asking for a referral to genetic counselling for yourselves (the early sessions we had were focused on DS, but it was good to go back later with us as the "client"). It also meant we could get tested for carrier status of other known, more routine, possibilities. 

Anyway, mainly I just wanted to say I understand a bit of what you're going through. Take care of yourself xx 

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la di dah

They've found my gene. It's just an obscure thing to test for. It was figuratively "right there" once they looked, iykwim.

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la di dah

Just bumping to say before everything's gone that we've had our first appointment with a fertility specialist and testing underway. 

Much love and thanks to everyone.

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CrankyM

@la di dah I hope the testing goes well. 

 

Off topic. But I don't know if you know that EB is being closed at the end of November. All of it is going to be deleted. Some members have set up a new site (everybump.com.au), but if there is anything on here you want to download, you might have to trawl back through posts.

I think of you and your boy often.

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la di dah

Thanks @CrankyM. I've made an account over there. That's what I meant with "before everything's gone"

I'm trying to decide what to save from EB and wandering vaguely around. So much of my early posting was embarrassing and heaps more was before the baby ever came... but I feel like I'll want things.

Thank you for your kindness in making sure I didn't just come back to it all gone. I can't believe it's nearly ten years.

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