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.
****Signature warning Losses Mentioned****


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
Re: more in depth PGD question
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
BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ D&C 8/1/2004 @ 5w5d
Sorry you're in this situation. It's a crappy hand to be dealt. ((hugs)).
***Losses mentioned.*** TTC #1 since May 2012. Me: 37, OH: 41. Ectopic August 2012 => tubal damage.
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" />
BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ D&C 8/1/2004 @ 5w5d
BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ D&C 8/1/2004 @ 5w5d
BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ D&C 8/1/2004 @ 5w5d
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
BFP#1 07/01/2004 ~ EDD 03/10/2005 ~ D&C 8/1/2004 @ 5w5d