to ask if anyone has done Preimplantation Genetic Diagnosis?

[MimosasInFrance]

I found out recently that I have a 50% chance of having inherited a genetic mutation which likely leads to a devastating illness in later life. This came at a time when DH and I were about to start TTC, and could not have come as more of a shock.

I'm pursuing Preimplantation Genetic Diagnosis and IVF to avoid potentially passing on such a gene, but it's all a lot to take in and I'm scared and overwhelmed.

Does anyone have any positive experiences of this? Everything I'm reading talks of low success rates and how difficult the whole thing is, and I know nobody else who has done it.

How did you find out? Can you be tested to find out whether you actually have the genetic mutation or not?

I haven't done PGD but have done a lot of IVF. To do PGD you'd follow the normal IVF process but biopsy the embryos and freeze them rather than transfer back to the womb straight away. Once you've got the results you'd do a 'frozen embryo transfer' cycle, if you had generically normal embryos to put back.

In terms of success rates it's generally around 30% or so per transfer, but can be higher.

FWIW, I'm currently pregnant with IVF baby 3, and both DH and I have fertility issues (some very significant!). It's taken a lot of persistence and resilience but for us it's worth it.

You may get better answers if you report this thread and ask for it to be moved to either conception or infertility.

@babyjellyfish

How did you find out? Can you be tested to find out whether you actually have the genetic mutation or not?

My mother became ill with the disease, and had genetic testing which concluded it was caused by a particular mutation which means there is a 50% chance I have it.

I don't want to test myself. I don't think I could live happily knowing if I found out I had the gene for certain. I know other people might feel differently but there are literally no effective treatments for the disease or ways to prevent it and I just think the anxiety would be too much :(

I can do PGD without knowing my own genetic status, it's been confirmed I'm eligible - it's just all really scary.

@TeddyTonks

I haven't done PGD but have done a lot of IVF. To do PGD you'd follow the normal IVF process but biopsy the embryos and freeze them rather than transfer back to the womb straight away. Once you've got the results you'd do a 'frozen embryo transfer' cycle, if you had generically normal embryos to put back.

In terms of success rates it's generally around 30% or so per transfer, but can be higher.

FWIW, I'm currently pregnant with IVF baby 3, and both DH and I have fertility issues (some very significant!). It's taken a lot of persistence and resilience but for us it's worth it.

You may get better answers if you report this thread and ask for it to be moved to either conception or infertility.

Thank you, this is so reassuring to hear and congratulations on your pregnancy :)

Is it Huntington's disease? If this is the case, personally I'd recommend you undergo the predictive genetic testing yourself first.

If you carry the mutant gene, this will have a devastating impact on the family as a whole. My dad died of Huntington's, we found he had it later in life, and I already had DC by this point. It was terrifying.

Had I had the gene, I wouldn't have had children. Growing up with a parent with Huntington's is no existence.

I'm sorry to sound like a doom-monger, but you really would benefit from genetic counselling to explore this further.

@BeautyGoesToBenidorm

Is it Huntington's disease? If this is the case, personally I'd recommend you undergo the predictive genetic testing yourself first.

If you carry the mutant gene, this will have a devastating impact on the family as a whole. My dad died of Huntington's, we found he had it later in life, and I already had DC by this point. It was terrifying.

Had I had the gene, I wouldn't have had children. Growing up with a parent with Huntington's is no existence.

I'm sorry to sound like a doom-monger, but you really would benefit from genetic counselling to explore this further.

Thank you for this, and I am so sorry to hear about your Dad. That must have been awful to go through.

It's not Huntington's disease in my case.

@Floundery

Yes - I did it for Lynch syndrome.

They didn't make that particular test available until I was 39. Despire ancient embryos I ended up with 5 healthy blastos of which DS was the healthiest, born when I was 41.

Thank you - you are actually the first person I've ever spoken to who has done this, it's so good to hear about your experience and that it had a good outcome for you! :)

I'm so sorry to hear that. I can't tell you whether you should get tested or not because it's an incredibly personal decision but I agree with @BeautyGoesToBenidorm that you might benefit from some genetic counselling before you make any firm decisions.

If you do have the testing and it reveals that you don't have the gene, it would be a huge weight off your mind and you could TTC normally.

@MimosasInFrance, sorry for making the leap and assuming it was Huntington's, it all sounded very similar in terms of inheritance pattern, prognosis etc!

I still recommend genetic counselling though. Just to reassure you, you're not obliged to go through any kind of testing as a result, but I found it immensely helpful.

Best of luck to you

[quote BeautyGoesToBenidorm]@MimosasInFrance, sorry for making the leap and assuming it was Huntington's, it all sounded very similar in terms of inheritance pattern, prognosis etc!

I still recommend genetic counselling though. Just to reassure you, you're not obliged to go through any kind of testing as a result, but I found it immensely helpful.

Best of luck to you [/quote]
No need to apologise at all, I really appreciate your advice and I can understand why you assumed Huntington's. I've been referred for genetic counselling so that's good, it will definitely be helpful to talk it through with a specialist rather than reading the entire internet and panicking, as is my current approach!

@MimosasInFrance, yup, Dr Google has a lot to answer for!

Genetic counselling is a legal requirement if you decide to go through for predictive testing for Huntington's, is it the same for your mum's condition?

I was under Addenbrooke's hospital in Cambridge for mine, and they were phenomenal. They also made it clear that they were available any time after I got my results, for advice and support.

It's very hard to keep a clear head when you're confronted by a situation like this, so the impartiality of counselling is a welcome relief. They'll be honest with you and give sound advice. It might help to write down any questions you have before you go - I often forgot to ask things and kicked myself after appointments, but the overwhelming emotion gets to you like that and your mind just buggers off elsewhere 😅

I have Huntington's disease and I'm offended by what I've read on this thread. It's not cut and dried how people with the disease decline. Beauty you should think of how hurtful your comments can sound. It's not you place to tell people who should have kids and who shouldn't.

Perhaps also be wary of what you might find out accidentally despite not wanting to know your own results.

I am at risk of something; it's not as conclusive as having the gene means getting the disease, but it's a big factor, especially with my family history.

I don't want to know if I have the gene. But I have inadvertently found out that it's fairly likely, simply because of the statistical likelihood of being in various groups in a general genetic study that I was involved in. I think the researchers hadn't realised how some of the results/comments would change what the participants knew about their own probabilities. And I was very upset at finding out in that way, almost casually, that the chances i had the gene were high.

For example, if you were told that none of the embryos/eggs was suitable for transfer - obviously there could be many reasons for that, but if you consistently got that result, when it was normally some percent that were suitable, that might inadvertently tell you that you were likely to have the gene

@BishBosh75

I have Huntington's disease and I'm offended by what I've read on this thread. It's not cut and dried how people with the disease decline. Beauty you should think of how hurtful your comments can sound. It's not you place to tell people who should have kids and who shouldn't.

I'm sorry you're offended @BishBosh, that wasn't my intention. At no point did I tell OP NOT to have kids, only that she needs to be fully informed of the potential consequences.

My post was based on my own experience of living with a parent with Huntington's, and those of people I've known in the same situation. Everyone is different.

What is your AIBU OP?

@Floundery

OP - forgot to say that my PIGD and IVF was done at CGH on Portland Street and they were great - they had a photo of baby DS in reception for ages, probably not there now, but it used to make me smile when walking past!

That's lovely! My genetic counsellor has a little cross-stitch I made for her, saying "Grab Life By The Balls" 😁 I'm not sure if she has it in her office though!

A colleague of mine did it. Her son is about 5 now.

Make an appointment with the genetics service. And talk this through with them. Make contact with your pgd service. They will be happy to talk to you about the process. I think most variables are dependent upon your age. Health bmi etc

I was in a similar situation with myotonic muscular dystrophy through my mum, I chose to have the test (long before DD was around) as I wanted to plan for the future. I also work in genetics and knew that treatment could be very different by the time it started affecting me. One of my siblings has chosen not to find out, the other has it. My mum got it from her dad but it was only diagnosed in the family in the 90s when my mum and her siblings had already had kids.

The doctor did discuss the IVF/PGD option should I have the affected gene, luckily it wasn't required. I wish you all the best, I hope the counselling can help you with how you feel if the PGD finds the mutation and tells you what you didn't want to know.

I am currently 9 weeks pregnant with DC2 via PGD and happy to talk. My DS was born with a genetic condition, neither of us knew we were carriers until he was born.

To do PGD you are going to need to see genetics and be tested yourself and depending on the condition and inheritance pattern they may well need some blood from someone else in the family affected if there is such a person.

You usually see the genetics team and they refer on for PGD. I would say it’s a fairly lengthy process. We actually had our referral in August 2019, were seen by local genetics team in November 2019 they already had blood from DS and took some from both of us, we got back in touch to say we wanted to proceed with next steps summer 2020, seen by PGD genetics counsellor November 2020, seen by IVF team April 2021, started treatment for Egg collection September 2021. Got the results from the genetic testing November 2021 and then had the embryo transfer in December 2021. Obviously there has been covid in the middle but it’s worth bearing a long timeline in mind.

The process wasn’t too gruelling, it is essentially IVF. It will always be a frozen transfer as they collect the eggs, make the embryos, biopsy those that make it to day 5 and freeze them as results can take a couple of months. There aren’t that many centres that do it for the NHS so might involve some slightly complicated travelling depending on where you are.

Happy to try and answer questions.

@Floundery Thank you so, so much for posting this. We have just found out DH has Lynch's syndrome, unfortunately as a result of a bowel cancer diagnosis. Radiotherapy has made him infertile so all our hopes of having a baby are currently stored in a hospital freezer. We were TTC before this and I am getting on a bit so in all the upsetting news the Lynch's thing has been particularly hard. It's so good to hear from someone who's come out the other side with a healthy baby.

In terms of success rates for us they quoted 1 in 3 chance of successful pregnancy for each cycle started and rising to 1 in 2 if you have an embryo suitable to transfer. A cycle counts as egg collection plus transfer of any embryos so if you had 4 embryos you could have each of them transferred if the previous one didn’t work and that would all count as one cycle. With the NHS you get 3 cycles funded wherever you are as it’s nationally commissioned, which is actually more than a lot of places offer for infertility. Funding does stop when you have an unaffected child, however if you still have embryos remaining and would wish to try again you can pay privately for storage and transfer. The cost of this is a lot less than the cost of a whole cycle including the egg collection.