Genetic Screening

Shelley asked me to do a post on Genetic Screening, PGD, PGS, CCS, aCGH, so many iterations.  While I am no expert, I have learned that Preimplantation Genetic Diagnosis or Screening (PGD, PGS) is the genetic testing of cells from embryos during IVF.  But you already knew that.

PGS for infertility or recurrent miscarriage screens chromosomes for common aneuploidies (extra or missing chromosomes).  The lab we are using can test chromosomes for abnormalities that are most common in early miscarriage. 

I've been calling what F and I are planning for IVF #2, CCS, which stands for Comprehensive Chromosomal Screening.  This process tests all chromosomes, including sex chromosomes.  However, the lab where our biopsied cells will be sent calls what we are doing Microarray Comparative Genomic Hybridization, or aCGH.    I'm going to assume these are the same thing.  From what I understand, CCS or aCGH is the most comprehensive testing.  I explained a bit about how the test results are given in this post.

There is also PGD for translocations and PGD for single gene defects.  These are most often used by patients who are carriers of genetic disease.

So there are choices to be made about which test to use.  And I guess not all labs have the same technology.  But again, I don't really know much about the different labs who perform PGS and what types of testing they do.  If you are interested in more information here is the link to the lab my clinic uses.  Some clinics even perform PGD in house.

Our cost is around $5000.   The PGD lab charges $2,500 for up to eight samples (if we were such rockstars as to get more than 8 embryos, we would pay $250 for each additional sample) and my clinic charges around $2,500 for the biopsy procedure.  We have to make all payment arrangements before egg retrieval.  In the event we don't get enough embryos to biopsy (we want more than four, that is our personal preference), or change our minds at the last minute, we will get a refund with no penalty (There are some tests that do have cancellation fees, I think the single gene defect and translocation PGD). 

The embryos are grown to day 5 or 6, biopsied at my clinic's lab and then vitrified.  The cells from the embryos are sent to the PGD lab for screening.  I think they said it only takes 2 days to get the results back, but by then my uterus has already closed down for implantation.  We'll have to do an FET.  I wonder if people are more likely to choose single-embryo transfers after PGS?  

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A small part of me hopes that we have 4 embryos so we can just go ahead and transfer 2.   I don't know if it is a fear of what the tests might reveal, the complexity and severity of this additional treatment, the time and extra waiting, or even if it is that I still may not believe that this will help us.  I feel a bit like we are part of a science experiment.   But I also feel that this may be the extra step that will allow us to be parents.  

I'll keep you posted.  Tomorrow I go in for my suppression check.  Fingers crossed all looks as it is supposed to.