Infertility

more in depth PGD question

So long story short I am a carrier for a very rare genetic defect that has been id'd thanks to sequencing.  So we just automatically thought, ok they can do PGD...well I'm an idiot LOL I work in science research so I should've known that is was more complicated than that.  They will have to make a probe to be used to test the cells that would be able to id the defect.  So it's another cost for us.

Has anyone else had to have a probe made first?
Was it one and done or did they have to try multiple times to get a good probe? Did they give you an accuracy % of the probe?

Any info would be helpful as I'm feeling pretty down right now.
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Lilypie Angel and Memorial tickers


Lilypie Angel and Memorial tickers


BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
D&C 8/1/2004 @ 5w5d
BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
08/06/14 Waiting for 1st IVF cycle to begin

IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

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Re: more in depth PGD question

  • I don't have any experience in this area but I wanted to send you T&P that you get your answers.
    image

    All welcome
    Me (35), DH (32) married in May 2013
    Dx PCOS 2006 DX hypothyroid 2013
    11/2013-Hysteroscopy to remove mystery scar tissue
    11/2013 IUI #1 using Femara and Repronex- switched to IVF for too many follies and then cancelled due to lack of growth after more than three weeks of playing with the meds
    1/2/14 New doc, new office: Add Metformin 1500mg, Synthroid increased to 75mcg, bunch of OTC supplements
    1/28/14 ER # 1 and 2 (yes, that's two ERs in one cycle...long story) 14R, 14M, 12F, 5 made it to blast for CCS biopsy
    2/25/14 CCS results in: three healthy frosties!!
    4/10/14 FET cancelled due to mucus and lining.  Different med protocol for FET 1.2
    5/2/14 Transfer of one CCS'd and completely hatched 6 day blast
    5/11/14 BFP!!!   First Beta 99  5/13/14 Second Beta 170


  • Thank you :)
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    Lilypie Angel and Memorial tickers


    Lilypie Angel and Memorial tickers


    BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
    D&C 8/1/2004 @ 5w5d
    BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
    BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
    08/06/14 Waiting for 1st IVF cycle to begin

    IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

    image           image





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  • pblgepblge member
    Isn't it usually just a PCR test? (I used to do lab stuff, too.) Or is it a Southern blot/microarray situation? If it's just the PCR, seems like the primers wouldn't be hard to obtain.

    Sorry you're in this situation. It's a crappy hand to be dealt. ((hugs)).
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    ***Losses mentioned.*** TTC #1 since May 2012. Me: 37, OH: 41. Ectopic August 2012 => tubal damage. :'(  Stage 1 endo removed June 2013. IVF #1 Oct/Nov 2013: Long Lupron with Gonal-F. 7R, 7M, 7F. 2 txfer@3d. Nothing frozen.  => M/C @ 8 wks. :'( Selected RPL panel all normal. Very hyper and brittle response to stims. IVF #2 (antagonist protocol) Feb 2014 => Converted to IUI (Perfect conditions). BFN. IVF #2.1 w/ new RE June 2014: Antagonist protocol. 33R, 31M, 30F, 19 blasts to test!!! I made it through without crashing!! :) Hats off to Dr. Fancypants!! ET of one 5AB blast. BFN. 13 10 CCS'ed snowflakes! FET #1 PUPO as of 7/29 Betas: 8/7@24, 8/9@97, 8/11@334 (etc.) Two sacs on 8/15, one seen on 8/18 after a bleed. U/s 8/25 (6+3) "perfect": 5.9 mm + HB@120bpm! U/s 9/4 (7+6): 15.9 mm + HB@172 bpm! Please, PLEASE stick this time!!!!
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  • I just had a probe made due to a microdeletion that I have. They were very up front saying that it would take longer than most to make, over 10 weeks, and that due to the challenges it may not be possible. They came back within 4 weeks and were very excited to say they were able to make a probe. It only took one try and they are 98% confident. They said the more embryos they have to test the more accurate the results. I am now starting my first ivf cycle and go tomorrow for my baseline appointment. Good Luck!
  • My hubby also has a rare genetic disorder which is why we choose to do PGD and IVF. It was a lengthy process where they had to ID the abnormality in the sequence. Once they completed that we worked with Reprogenetics to create the probe (Single Gene Disorder) which took 7 months. I think our case was pretty complicated which is why it took so long for them to create the probes. They needed both of our DNA plus both of my husband’s parents DNA. It cost $3000 for us to create the test and then $2500 for them to actually do the testing on the embryos. My Doctor also recommended we do the aCGH chromosome testing as well since we were doing the PGD which was an additional $2750. To answer your question they said there was 90% accuracy on the probe.  

    I just did IVF and 7 embryos made it to 5 and 6 day blasts when they were biopsied and frozen. The results took 11 days. I got the results over the weekend and 2 came back normal, one positive for the Disorder and 4 were undeterminable/chaotic DNA. I have to speak with my Doctor about what to do with the other 4 since we want a large family but I am so thankful to have 2 healthy embryos. Hope this helped. <?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" />

  • pblge said:
    Isn't it usually just a PCR test? (I used to do lab stuff, too.) Or is it a Southern blot/microarray situation? If it's just the PCR, seems like the primers wouldn't be hard to obtain.

    Sorry you're in this situation. It's a crappy hand to be dealt. ((hugs)).
    I think it is, I work in a lab too! :) But I do way more TC and western blots...so am not 100% sure on this
    ****Signature warning Losses Mentioned****






    Lilypie Angel and Memorial tickers


    Lilypie Angel and Memorial tickers


    BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
    D&C 8/1/2004 @ 5w5d
    BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
    BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
    08/06/14 Waiting for 1st IVF cycle to begin

    IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

    image           image





  • Psualum05


    Thank you both for responding! I have more hope now! :) It may take longer than I wanted, but I know it's still in my grasp! :) Thank you so much!
    ****Signature warning Losses Mentioned****






    Lilypie Angel and Memorial tickers


    Lilypie Angel and Memorial tickers


    BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
    D&C 8/1/2004 @ 5w5d
    BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
    BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
    08/06/14 Waiting for 1st IVF cycle to begin

    IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

    image           image





  • IFinTN said:
    You might have already done this, but I bet the PAIF/SAIF ladies have more info on that. I know I have seen a few come through that did probes but can't remember who off the top of my head. Sorry!
    according to their descriptions, I don't fit their mold LOL. Do you think they would mind if I posted the question in there?
    ****Signature warning Losses Mentioned****






    Lilypie Angel and Memorial tickers


    Lilypie Angel and Memorial tickers


    BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
    D&C 8/1/2004 @ 5w5d
    BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
    BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
    08/06/14 Waiting for 1st IVF cycle to begin

    IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

    image           image






  • I am in the process now of having the probe set up. I am a carrier of DMD, so they needed my DNA, my husbands and my parents.  I was told between 8-10 weeks for the probe to be completed. I sent everything to the lab in NJ a few weeks ago.....hoping they will have it done soon.

    Good Luck!
    Lisa
  • @LC102310
    Lisa!! Thank you!!! A timeline is very helpful!! :) And it gives me some hope of things to come!!
    ****Signature warning Losses Mentioned****






    Lilypie Angel and Memorial tickers


    Lilypie Angel and Memorial tickers


    BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ 
    D&C 8/1/2004 @ 5w5d
    BFP#2 12/27/10 ~ EDD 9/06/2011 ~ DS born 08/14/11 via c-section, passed away 10/17/11
    BFP#3 09/07/12 ~ EDD 5/09/2013 ~ DS born 01/30/13 survived for 2 hrs
    08/06/14 Waiting for 1st IVF cycle to begin

    IVF#1: started stims 9/15; trigger 9/24; ET 9/26-5R 5M, 5F. 3 biopsied for PGD

    image           image





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