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Bummer topic: fetal tissue testing?

  1. SweetiePie

    honeydew / 7463 posts

    @looch: Awww thank you. Hopefully Mrs. Jacks is right, but I'll still take all the well wishes I can get!

  2. FliegepilzHut

    pomegranate / 3533 posts

    I'm going to bump this depressing topic.

    If you've had a recent D+C: were genetic tests sent? If so, were they conclusive? And do you know which test was ordered?

    I think I'm going to pursue POC testing...now in the process of trying to get prior authorization through my insurance company. Hopefully, if it's positive, it will save me and my DH some time and money (especially if it obviates the need for peripheral blood testing for us)...

  3. jaguar

    pomegranate / 3764 posts

    @FliegepilzHut: We've just had ours sent off after the d&c too. My OB said it could take several weeks, so that'll be a frustrating wait. (I'm in Australia though, everything seems to take forever over here.)

  4. SweetiePie

    honeydew / 7463 posts

    @FliegepilzHut: I'll reply to my own post with my answers since we got our testing, and answer yours too. I want to find my results in my filing cabinet so I can tell you exactly what testing we got.
    And I'm sorry again you are going through this

  5. FliegepilzHut

    pomegranate / 3533 posts

    @SweetiePie: Thank you! There is a lab in CA (Natera?) that does SNP (single nucleotide polymorphism) testing and has a really fast turnaround and high rate of success detecting genetic defects on m/c tissue... Apparently, otherwise, my hospital uses a lab that is somehow less reliable. I'm really hoping that we can get some answers...either that this was a ranfom duplication/deletion of chromosomes or that one of us (DH or I) has a translocation... I would hate to go through this again, not sure of the risks!

  6. aegie

    clementine / 806 posts

    @SweetiePie: I lost my baby at 21 weeks and I had fetal testing done to rule out any genetic issues. Also by doing this, my doctor can prescribe a CVS early on for my next pregnancy along with other care that wouldn't normally be covered by insurance otherwise.

  7. SweetiePie

    honeydew / 7463 posts

    @FliegepilzHut: hi! Ok sorry it took me so long to reply, it took me some time to track down my test results.
    I think you know way more about the test types than I did All my doc said was that they would send the fetal tissue for genetic testing.
    The results I got back say at the top "Chromosome Analysis" and then the results say "Abnormal Karyotype" and then in the analysis it says "Cytogenetic Analysis shows...."

    Our results showed a partial trisomy 18. The "partial" part is what sent up a red flag for us to get tested. So they did karyotyping on my husband and I. I have a balanced translocation between 18 and 20. So our only recourse was IVF w/PGD. Odds then even weren't great but somehow we had a "normal" embryo the first time (the only one out of 13 eggs retrieved) and it stuck!
    I am now 34 weeks pregnant with a boy. So even if you do carry a translocation it can end happily It's a long hard road and it may not happen right away, but it's possible.

    I know you did IVF and I was cheering you on on the IVF thread. Still so very bummed for you But remind me, is this your first miscarriage? Are they being extra vigilant because of IVF? Are they bringing up the possibility of translocation or is that from your own research? I'm just curious! I have few folks that I can relate to on HB when it comes to translocation. And I'm a big advocate of genetic testing after what we went through so I like to hear how people come to that. We were just extremely lucky that my doc at the time suggested it. Otherwise who knows how many more miscarriages I would have had (or worse).

  8. Mrs. Pickle

    blogger / wonderful cherry / 21628 posts

    @SweetiePie: my RE tested my husband for a translocation on a whim (her words). I'm so glad that she did because it was wonderful to have answers. She really didn't expect it to come back abnormal. I agree that genetic testing is so important if you've had multiple miscarriages.

  9. FliegepilzHut

    pomegranate / 3533 posts

    @SweetiePie: Thank you for all the information! Do you remember how long it took to get your results, by any chance? So, we are having testing done on tissue from my D+C today, but I was told that the lab my hospital uses only is able to provide definitive answers a portion of the time. Because of some kind of exclusive relationship with the lab, I can't send tissue to a more specialized lab for genetics. But I'm really hoping that this can give us an answer. This is actually my 2nd m/c-- the first was a MMC (spontaneously conceived) at 8 weeks; this was a blighted ovum (following IVF, 5dt), detected on first sono at 6.5 weeks.

    ETA: No, they didn't specifically raise the issue of a translocation...but the kind of losses I've had suggest that there was something genetically wrong (either inherently or arising during development). DH and I would much rather know if that's what we're working with (rather than go through this again...).

  10. SweetiePie

    honeydew / 7463 posts

    @FliegepilzHut: Sorry you had your D&C today. If you have any questions about recovery let me know. I've had 2, unfortunately. But all in all they were "good" experiences and I'm glad I went that route.

    I think for the fetal tissue testing it took about a week for results.
    I think that the karyotyping of my husband and I took a bit longer. I think 1.5-2 weeks.

    I'm so glad that you are being proactive! We are our own best advocates. Do you think you'd pursue PGD if one of you is carrying a genetic disorder/abnormality?

  11. FliegepilzHut

    pomegranate / 3533 posts

    @SweetiePie: Again, thanks! I'm hopdul it will only be a week or two, then (rather than up to 4-6weeks that was mentioned for DH's & my chromosomes). I think we probably would do PGD, if one of us is responsible for a partial trisomy or deletion... We have 3 frozen embryos, once we decide what our next steps need to be...

    And I may totally reach out about post-D+C issues. It's been 2 years since my last...and I don't remember too much abou the immediate aftermath. This time, so far, so good though! Thanks again!

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