Pre implantation genetic diagnosis

[littleduckeggblue]

Has anyone had PGD and would like to talk to me about it?

Bump

Hi @littleduckeggblue, I've had one cycle of PGD at Guy's and am waiting to start the next one, although it's delayed for the foreseeable future obviously!

Happy to answer any questions - what is it you'd like to know?

Brilliant. We are looking into it as our genetics doctor mentioned it.
Do you have to give yourself injections beforehand or is that just for normal IVF?
Can you talk me through the steps?
Thank you xx

@Holly147

I am currently 12 weeks pregnant after PGD at Guys.

First I went on the pill to regulate my cycle so they could start me off at a time that fit with when i had a slot with the genetics team.

Then you basically start the process for normal IVF. I had short protocol. There are lots of injections etc. but you get used to them and they are not too bad. I also had regular (internal) scans so they could tweak the medication and, when at the right stage, you take a trigger shot injection.

Then the next day you go in and have a general anesthetic and they take out your eggs. At the same time, your DH will do "deposit" and then they will put them together in my case via ICSI where they inject each sperm into the eggs.

Then is the nail biting section where you find out how many eggs. the how many have fertilised and then after 5 days, how many have made it to the 5 day blastocyst stage of a quality good enough for testing.

You will then come odd the drugs and have a withdrawal bleed / period.

Then you find out if you have any embryos that have passed the testing and are ready for implantation. We were lucky and we had some.

I then got the next lot of drugs - first oestrogen which stops your ovaries working and then when ready you start on various forms of progesterone (3x daily pessaries and 1 daily injection in my case) and then you go in for embryo transfer. Not massively pleasant but totally fine. I had mine not long before lockdown.

The you wait a couple of weeks and take a test...

sorry - that had paragraphs when I typed it!

Thank you so much @Bumbers
Sounds much more than I thought.
Congrats on your pregnancy!!

I had short protocol too so my experience has been pretty much the same as @Bumbers up until after egg collection. For my first embryo transfer I did the medicated cycle with progesterone and oestrogen as well, but had side effects from the oestrogen. I heard on here that you could do natural embryo transfer cycles, so asked if I could do that for the others (I had 4 embryos). The consultant said this was fine as I had a regular cycle. This meant no drugs prior to transfer, which was great, and turned out to be quicker as well.

It just meant I had to do home ovulation tests to see when my peak LH surge day was (about day 13/14 of my cycle normally) and went for an internal scan at a local clinic around the same time to check I had a leading follicle. Then I phoned Guy's to see if I could have the transfer and it would be booked in for 6 days later. If they have a space available you can do this every month if it doesn't work first time rather than having to wait a few months for another go. It also meant I found out whether it had worked (or not in my case!) more quickly as well, as my period started naturally about a week after transfer, so I didn't have to wait until doing the pregnancy test. If you have a medicated cycle you carry on taking the drugs after the transfer, so you don't have a period. However doing it naturally does mean you have no control over when you find out whether it's worked or not.

Like @Bumbers I found it was all fine - much easier than I expected. I wasn't sure about doing the injections, but the needle is so thin that it didn't really hurt and went in really easily.

I was nervous about the egg collection as I hate any hospital procedures, but that was easy as well. I found I actually quite liked being sedated - went straight out as soon as they put the drugs in and apart from being slightly groggy afterwards was fine and left after about half an hour. It was a bit sore for the rest of the day, but I didn't need any painkillers, and woke up the next morning feeling completely fine.

@Bumbers @Holly147- I assume your IVF at guys was private? I had IVF there in Feb (NHS) and they said they didn't recommend PGD, unless its to screen out a known genetic issue. I'm older, had 3 losses now and the 1st one had confirmed trisomy 13, so thought we'd be good candidates, although neither DH or myself are carriers of T13. We even offered to pay the difference from the NHS treatment to pay for the PGD and were told its not an option unless private!

The consultant actually advised against PGD, explaining that the cell/s they remove to test, might have turned into the unaffected placenta or other part, and not necessarily the foetus. He also said that overall outcomes to a healthy baby haven' been proven (unless screening a known medical condition.

I'm currently look into it again, but would be paying privately- possibly at Guys again. Its incredibly expensive, so I'd like to know more stats before going ahead.

Ours would be to screen for a known genetic condition in which myself and DH are both carriers.

Sorry - realise I have already done a very long post, but thought of something else!

Prior to starting was also quite a long process, which might differ depending on the reason for having PGD - I am an unaffected carrier of a genetic disease that's a mutation on the X chromosome.

I first had to make an appointment with a genetic counsellor via my GP. Then I had to prove I was actually a carrier (although I knew I was) by having a DNA test - just a normal blood test. We weren't planning on telling either set of parents we were having PGD until we had some news, but as it turned out we had to, as my parents both had to have a blood test as well, along with my partner. I'm not sure how the process works exactly but they used the DNA from the four of us to develop a test. Presumably they then used this to match against the DNA of each embryo, to check it didn't have the mutation.

After all the blood tests had been received by the lab, we could apply for funding (I'm in Wales, so might be slightly different elsewhere). Then we had an initial consultation at Guy's where they told us in detail about the process, then sent us consent forms to sign and return. I thought we already had funding agreed at that point, but apparently it was just for the initial consultation... So we then had to wait to get funding approved for the actual PGD.

I had a couple of tests before starting - e.g. blood tests to check hormone levels/ovarian reserve, that I didn't have hepatitis or HIV, and that I was immune to rubella. I was weighed and measured, as there are BMI requirements, and had a internal scan to check my ovaries looked ok.

Overall the waiting has been the worst part of the process as it's so frustrating. It has taken 3 and a half years from the GP appointment until now, just to have one cycle.

@Elouera mine was NHS funded - I am a carrier of a genetic condition so am entitled to three funded cycles of PGD. I didn't think it was possible to have PGD unless there is a known condition, as I think they look for the part of the DNA that would show the condition and compare it to that of the carrier and non-carrier parent.

Sorry for your losses

@Holly147- I vaguely recall 1 consultant at Guys adamantly saying they didn't even do PGD there. I got the impression that meant that hospital don't have the facilities/can't do it, but have since seen it as an option on their websites. As you said though, maybe it is only for a known condition. Its listed on the pricelist for private IVF, but maybe not an option for us.

What do they do if 1 or both grandparents aren't alive, or live abroad? It sounds very detailed having all grandparents screened also! I can only imagine the wait to get everything done must have been months.

@Elouera - I know, I was surprised they wanted to test my parents. I did wonder what would happen if either parent had died or if you weren't in contact with them / they refused to have the blood test. I'll have to ask next time I go!

It ended up being almost 2 and a half years from the initial referral to the egg collection. In hindsight I wish we'd looked into private clinics abroad.

There are certain conditions where the grandparents’ status is immaterial, IIRC. It depends on your condition / reason for PGD.

@Elouera we have a known genetic condition (chromosome translocation) and so qualify for NHS PGD. I think you might be talking more about PGS (screening) which they dont do - even if you're having PGD - so we were tested for our known issue, but not anything else - still have to have nuchal tests etc. Guys is one of the leading hospitals for PGD.

@Bumbers- yes, sorry, PGS is the one I was referring to. I was told by a different private clinic that I too would also need NIPT/CVS/12 week scan etc, even if I'd had PGS, so its also not a guarantee for later issues.

@Elouera yes - I don't think the testing is very effective yet, which is why they dont typically do it - you may discount a perfectly good embryo and it is still no guarantee against an issue.