PGD genetic testing

[Joanna1701]

Hi ladies, me & OH had our first consultation today @ our chosen NHS IVF clinic, the appointment was for PGD screening as I have the BRCH2 Breast cancer gene

Has anyone else had ICSI/IVF via PGD screening?

Wondering what kind of ratio of positive gene eggs & negative gene eggs?

I didn't realise all embryos with positive genes were just discarded & you didn't have the choice to put them in if there aren't any viable negative gene eggs , probably naive of me

Definitely left me overwhelmed & thinking not to have PGD & just go for IVF & come what may the outcome

[Hidden]

Hi Joanna, it’s a tricky one with Pgd even my genetically normal embryos turned out to have a problem. Some clinics damage the embryos with the procedure and I only had success on my 6th cycle when I was advised not to fiddle with the embryos and avoid Pgd. Excellent labs can correctly and safely extract cells without damage but some can’t (we were told this by a top Professor in the US). As long as you trust your clinic go for it but if any doubt leave those embryos untouched xxx

[Lizzielizzielizzie in reply to Hidden]

I think you may have had what the nhs would call pgs rather than pgd for a specific gene disorder... the acronyms are used differently in the US I know but over here pgd is the term used when a specific test for a specific known inherited disorder is being used. The nhs only funds treatment at a very small number of uk clinics who are expert at the procedure and the chance of damaging healthy embryos with the process at these clinics is very low. They test the embryos at five or six days and the necessary biopsy is taken from the cells which will later become the placenta, not the baby xx

[Hidden in reply to Lizzielizzielizzie]

I had my first 3 cycles in the UK with PGD performed on 5 day blastocysts. The UK are experts and labs great. Where things went wrong for me was in Spain...won’t bore you with the details but definite damage done xxx

[Lizzielizzielizzie in reply to Hidden]

Why were you having pre implantation genetic diagnosis? Was it for a specific condition? Just curious!

[Hidden in reply to Lizzielizzielizzie]

Because of my age 42-43 while in my cycle. This way we could select the normal embryos and 2 out of 7 were normal. As someone whose had 5 miscarriage and one termination due to severe problem I had to. Unfortunately one of my PGD normal embryos turned out to have a nuchal of over 6.4mm and I was advised to terminate as it would have died in the womb later on and the thought of going through child birth with no live baby at the end of it was too much x

[andylins]

Hi! Definitely a useful thing to have, honey! It's known that PGD tests are not only for genetic diseases. But they are also done for chromosomal abnormalties. The older we are the higher the % of our embies are going to be chromosomally abnormal. Most of these abnormalties are fatal and end in a MC. Some like Trisomy 21 may result in a viable birth..I'm saying all this just because I strongly recommend you going through this procedure. Besides you wrote you have the breast cancer gene..I'm sorry for that. It must be a hard issue to live with, still you'll do the best having PGD for your embies. Wishing you all the best of luck in the world!!

[Lizzielizzielizzie]

I had ivf with pgd but for a chromosome translocation so slightly different. You can read my story on previous posts. I can understand the moral dilemma- I was aware that embryos carrying the chromosome problem weren’t compatible with life any way, but I struggled with the idea that my embryo which carried a different abnormality not related to the chromosome translocation was also discarded and might have been viable.

Has your genetic counsellor advised whether you would be allowed to test any child for the gene? We were advised that, once born, we would not be allowed to test our child for our inherited disorder until he or she was 18 so we wouldn’t know if they were a carrier. This may affect whether you want to take the risk of a non diagnosed embryo - could you cope with not knowing if you had passed it on?

If you are accessing the nhs pgd funding then be aware that this won’t entitle you to normal ivf and you probably won’t be entitled to three rounds unless you are in one of the very few areas of the uk where there are still three free rounds for infertility. This might also affect your decisions as ivf is very expensive!

If you are in the uk, there’s a closed Facebook group called something like pgd at guys which people being treated at Guys in London have set up- might be worth searching for to find others in the same boat? X

[Cyantist]

If you have this gene I imagine that the ratio of positive to negative in the eggs would be approximately 50:50.

How would you feel if you didn’t go ahead with the screening and your child ended up with the gene and subsequent problems associated with it? Some people would be fine with that, others wouldn’t and only you can know how you’d feel in that situation.