Has anyone gone through PGD????

Question

Hi ladies, 
Me and my partner have been referred for PGD (pre implantation genetic testing) due to our little boy passing away at 4 months old because of a genetic condition called Spinal Muscular Atrophy, so future pregnancies could be affected, there is a 25% chance it could happen again and we would hate to have to go through the pain of hearing another baby has it and having to go through a medical termination. We both didn’t know we had this genetic condition until it was passed to Teddy which is so unfair as I think it should be tested for during pregnancy. 
we should hopefully be getting an appointment jan/feb time and I’m just wondering has anyone gone through the process and what to expect? 
Would really appreciate some help!!! Xxx

Answer

I am so sorry you lost your son. 
We did PGS which just looks at the number of chromosomes and how they are arranged or something, but I imagine it is a similar process. They might take blood and check to make sure you both don’t have any other recessive gene disorders. If you did they would check for that too. If not, they’ll just check for the gene you have. If it is the same process (which I can’t imagine why it would be different) then they will do your egg retrieval then put each egg with one sperm (ICSI) then after they grow to a 5 day blastocyst they Will take a few cells, send them off to testing, then freeze the embryos. Then once the test results come back you will know which embryos are affected and which are not. 
Before you start you will get contracts to sign that lay out what will happen to the affected embryos. There are options like to donate them to research or destroy them. They probably lay out risks too like potentially misdiagnosis of embryo, but maybe that part is different for PGD. 
Then once you have the results you would do a frozen embryo transfer. 
I’m so sorry you’re going though this.

Answer

We are doing IVF specifically for this reason as well, for the PGD testing. I naturally conceived last year, and during that pregnancy my husband and i first learned that we were both carriers for CF. We ended up losing the baby at 5 mos for non-CF related reasons that shower up at our 20 wk scan. We just finished our first IVF cycle with PGD testing and are starting another now to try and bank another CF-free, chromosomally normal embryo to use for a future FET. The PGD testung process is the same as PGS (in that you do a stim cycle, then ER, then biopsy cells and send them to a lab for testing), EXCEPT there is an extra step at the front end of it all: before starting the cycle, you have to find a lab that will make a probe specific to you and your partner to use in testing your embryos. It can take several weeks to several months to build the probe, and the lab will ask for blood and/or saliva samples from you and your partner and possibly your parents and other family members. It’s a whole thing and has to be completed before your IVF cycle can begin. Long and annoying and expensive, but...a healthy baby at the end, hopefully. Good luck!

Answer

The only way to test for this pre-pregnancy I believe would be with IVF.. otherwise an amniocentesis during pregnancy should detect it... best wishes and sorry for your loss 💜

Answer

I am so sorry for your loss! We did PGS testing for our three embryos and they cake back normal thank God but we were planing to only transfer normal embryos to give us a better chance of getting pregnant. If you can afford it do it it’s worth the peace of mind

Has anyone gone through PGD????

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