PGS question...

Breeze

10 Posts
Reply Posted on: Jan 9, 2016 at 8:04pm
I have a partial gene duplication on my X chromosome and Ive done a lot of research on it and it seems the wide consensus is that it does not cause problems but there are a couple doctors that say that it possibly causes autism and ID.
I just found out my insurance covers PGS (PGD cant be done without 1 more family member for the probe) so we wanted to do PGS and transfer only female embryos since females arent likely to be affected because of x inactivation.
Im just now concerned about discarding abnormal female embryos that might be normal.
In your study were the embryos biopsied on day 3 or 5? I've heard of self-correcting between days 3&5. How likely is this after day 5

Dr. Braverman

2026 Posts
RE: PGS question... Posted on: Jan 11, 2016 at 8:39am
I would not expect sex chromosomes to autocorrect. We are starting a joint venture with Baylor University to screen embryos for known genetic defects linked to autism. while I do not thins the gene dupliction you have is a risk , I will run it by the team and let you know the experts opinion on this.
Braverman Medical Team
Braverman Reproductive Immunology P.C.

Dr. Braverman

2026 Posts
RE: PGS question... Posted on: Jan 11, 2016 at 9:12am
This was the reply from the Genetics team at Baylor:

As a whole, duplications are less pathogenic than deletions. That being said, there are certainly X chromosome duplications that can be problematic. It would depend on many variables- the exact breakpoints, reason that testing was done (serendipitous or symptomatic proband), family history (any affected females), etc. I would say that they need to see a prenatal/preconception genetic counselor who can advise them whether PGS for sex selection would be advantageous
Braverman Medical Team
Braverman Reproductive Immunology P.C.

Breeze

10 Posts
Reply RE: PGS question... Posted on: Jan 11, 2016 at 12:18pm
f you could ask their opinions I would GREATLY appreciate it! From what I have found there is only 2 of 7 or so doctors that say its a possible cause but the others like as you had mentioned said they believe only deletions and mutations of that gene cause autism.
& yes, I know the sex won't auto correct but was just curious of the chances of everything else autocorrect after day 5?

Dr. Braverman

2026 Posts
RE: PGS question... Posted on: Jan 11, 2016 at 12:28pm
no you wont get any autocorrectison after day 3 or 5. I suggest you contact a "good" genetic counselor, this is not the specialty of most "doctors" .
Braverman Medical Team
Braverman Reproductive Immunology P.C.

Breeze

10 Posts
Reply RE: PGS question... Posted on: Jan 11, 2016 at 1:21pm
Sorry for not being clearer....when I said "doctors" I actually was referring to doctors whom have actually wrote papers and studied this partial duplication....not just any doctor. My apologies. Ive also spoke to 3 different genetic counselors who know nothing about it other than what I mentioned.

Also, I know my gene wont auto correct. PGS cant even pick my duplication up because its too small nor is PGD an option without one more family member which I do not have. I was just curious speaking generally about self-corrcting so I know how to preoperly handle "abnormal" embryos that I may recieve when we do PGS for female selection.

Dr. Braverman

2026 Posts
RE: PGS question... Posted on: Jan 11, 2016 at 1:28pm
ok my advice is to do the biopsy on Day 5 and save all high Grade embryos that are at least expanding blasts. So if they are abnormal you can use them if properly advised.
Braverman Medical Team
Braverman Reproductive Immunology P.C.