Fragile X / PGD

I finally spoke with my RE today at a follow-up appointment. We had a nice long talk about my three miscarriages and what could be going on. I have Antiphospholipid Syndrome (and need baby aspirin and lovenox once I get my bfp) but she says that usually doesn't cause miscarriage until the 2nd trimester. Since my betas always start out so low, she says that the cause is most likely chromosomal. And to have 3 in a row means something is not right.

She reminded me that I tested positive as a carrier for Fragile X Syndrome when I was pregnant. Fragile X causes mental retardation. At the time, all my OB told me was that my number was low enough that I don't have it (obviously) and that my children wouldn't have it. But it gets worse with successive generations so my grandchildren will be at risk. I figured I'd get DD tested and deal with it when she's older. But now my RE is telling me that being a carrier for Fragile X affects *me* and my chromosomes now, and makes me have more "bad eggs" than your average person. She says my ovarian reserve is "fantastic," which is good news (I'm 35) but that my proportion of damaged eggs is much higher than a normal woman's and that this would explain all of these early losses. It also means that my chance of miscarriage is quite high with every pregnancy I'll have in the future.

So what do I do? She suggested that my plan should be to keep getting pregnant, getting pregnant, getting pregnant and know that we'll catch a "good egg" eventually and it'll stick. I asked her about IVF and selecting good embyros, and she said that PGD was certainly an option. But since I've been getting pregnant so easily (3 times in the past 9 months), she seems to want me to keep going that route and hoping each time that the egg that pops out is a good one.

Sorry for this wall of text, but it's a lot for me to take in. Did any of you test positive for Fragile X markers? Anyone do PGD for any reason?

Re: Fragile X / PGD

sent FM

Fragile X / PGD

I don't have any experience with Fragile X, but if I were faced with the option, I would go with the PGD. We had planned to do PGD with the IVF cycle that resulted in my chemical, but we only had 1 embryo and it wasn't far enough along on day 5 (which is when they do the biopsy). We wound up doing a blind transfer on day 6.

They suspect the chemical was caused by a chromosomal abnormality. I know PGD isn't a guarantee, but we're hoping to be able to do PGD with the IVF cycle we're going to do over the summer to try to minimize the risk of another chemical.

Good luck with whatever you decide!

Fragile X / PGD

I've been there. Please fm any questions. PGD can damage your embryos more than it helps. Also, surprising my affected embryos were healthier then those non affected most of the time,

Eta: of you do do PGD have them test on Day 5 it gives more data then do a frozen transfer. So much is missed on day 3 and 4 testing.

Message edited 5/1/2014 5:44:59 PM.

Fragile X / PGD

Sorry you are going through all of this. I also had 3 losses in a year 1 chemical and 2 miscarriages both at 9 weeks. I went for a second opinion and that RE suggested just keep doing iui's and eventually I would get a good egg. He said that if I could emotionally handle losing more to go this route. I tried 2 more iui's with no success so I finally decided to do ivf with PGD. It took me 2 cycles to get enough eggs to send for testing (7 total). I had a total of 18 mature/fertilized embryos and 7 made it to day 5, 6 were biopsied, 5 normal, 1 inconclusive. When I look at the numbers and see I started with 18 and only 5 were normal makes me really happy we decided to do the test. I very easily could have gotten pregnant with one of the 13 bad embryos. I had my transfer on April 18 and had my first beta this mon(355) second beta wed(823). I know PGD is not a guarantee for a successful pregnancy but these are the best beta numbers I have ever had. So to me the PGD was totally worth it for my sanity. I am not overly confident with this pregnancy but it is a step in the right direction.

Fragile X / PGD

Also as 2birdsofafeather said if you do PGD make sure they are tested on day 5. I had so many that were growing on day 3 but didn't make it to day 5.

Re: Fragile X / PGD

Ok, wow, that's a lot to think about. Thank you so much to everyone who responded. I never even thought about IVF until today because I've been pregnant 4 times - twice on my own and twice with Clomid / IUI. And IVF with PGD just sounds so extreme. I think I'm going to get a second opinion with a different doctor and try to get as much information as possible.

Message edited 5/1/2014 6:15:57 PM.

Fragile X / PGD

If you do IVF it would cost around $15,000 and then have to pay to freeze embryos. genetic testing is around 5000. I know someone that had thse & did many, many, many IUI's and never got prego. She did IVF & had loses. She then did donor eggs & lost twins 2x. During all this she was also doing intraplids & something else which was following Dr. Beers theory if you google him you can get more info. She has finally given up. She is trying to adopt. Obviously this is an extreme case....but just start going to high risk drs & get suggestions first before you continue to get your heart broken with loses. Best Wishes to you.

Re: Fragile X / PGD

As the others have said, I'd do day 5 testing, freeze, and do an FET.

We did PGD the cycle that brought us our son. After so many losses, we wanted to be certain we were covering every base. The testing revealed half my embryos were normal (which in turn means half were abnormal) which is actually a very normal result for my age category (late 20s). I did end up losing my DS's twin early on, which is why I say do the testing on day 5. I think it's more conclusive.

Re: Fragile X / PGD

I have had 4 losses, but got pregnant on my own with each too. I did IVF in 2013 because one of my losses was at 20 weeks and was chromosomal (a triploidy). My RE at the time recommended PGD. I know there are posters here who really benefited from PGD testing. Unfortunately, while we had 3/4 of our embryos come back as "normal", none implanted. I had three separate transfers. I had other undiagnosed issues at the time that affected implantation (my RE wasn't looking into them).

The hardest part of PGD for me was the time frame. I was not a huge producer of eggs, and your embryos have to make it to Day 5 to even undergo PGD. As a result, it took three cycles to batch and freeze in order to get enough embryos to test. My RE did not make it clear to me ahead of time that I could potentially need multiple cycles to do PGD.

Fragile X / PGD

Hi! I am currently looking into PGD. I have a son affected with a rare genetic syndrome and only after he was born realized I was a carrier. I'm not sure we will go through with the PGD bc insurance doesn't cover it. Others above have suggested the embryos be tested on day 5, but after speaking with the genetic counselor at the lab, I can test on day 3 for a single gene disorder. If I also wanted to do a chromosome analysis then I would have to test on day 5. Id love to do both but if paying out of pocket than I would have to consider cost and adding another test adds cost.