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PGD – pre-implantation genetic diagnosis

Well now, that’s a mouthful.  It’s no wonder the medical community comes up with all of these acronyms.  PDG – so much easier to say.   This is also sometimes referred to as PGS – pre-implantation genetic screening.  So, we continue our discussions of genetic testing. My last blog entry was about pre-conception testing, this one is focused on the most common form of testing done after an embryo is growing, but before it is transferred back to the uterus (usually on day 5 or 6). 

So, what is PGD and when would someone decide to use it? 

PGD can only be used when the embryos are fertilized and grown outside of the uterus – like in IVF.  The process of PGD is that the embryologist will take a biopsy of a growing embryo (usually on day 3) and remove one or two cells then usually they send it off to a lab that can test select chromosomes of those cells for a variety of genetic disorders and have the results back before the patients decide which embryos to transfer. This way you are eliminating the embryos that you know have genetic defects(not the standard 23 sets of chromosomes) and are only transferring embryos that are considered “competent” or without defects for the chromosomes tested. 

Who would want to do this testing?

There are a few main reasons that a patient may elect to have PGD testing:

  1. It can improve the likelihood of a successful pregnancy for patients who are at risk for passing along an inherited genetic disease.  This can be for something passed from either the egg or sperm.
  2. It can also be helpful for couples experiencing recurring miscarriages - it can rule out embryo competency as a factor for failure, or alert couples if a higher than expected number of embryos have chromosomal defects to allow for futher testing. 
  3. It can be used to help older women select the best embryos.  In patients with advanced maternal age (starting as early as our late 20s, but really making an impact after our mid-30s), we know the possibilities for chromosomal abnormalities in a woman’s eggs increases as we get older.  And the older you are, the higher the risk for genetic/chromosomal defects.   This is evidenced in the success rates of IVF in young women vs. older women.
  4. Another reason some patients may choose PGD is for family balancing – aka gender selection.   Note: although this is legal in the United States, many other countries do not allow PGD for gender selection. 

PGD cannot guarantee success.  And because it generally tests only about 5 sets of chromosomes that provide the greatest risk for defects, there still are risks for other genetic defects that may be incompatible with life, or result in a baby with health issues.  Often, even if PGD testing is done, the pregnant patient may be counseled to considered CVS or amnio as part of routine pregnancy screening. 

So, while older patients (who are at higher risk that  their eggs that could result in chromosomal abnormalities) may see somewhat higher success rates by using PGD, when using young donor eggs, the success rates may actually drop slightly.  Ask your clinic if they keep statistics on patients similar to you who use PGD vs. those who do not – this may help with your decision making.

Sounds surprising, right?  The reality is that there can be a small number of embryos that do not survive the biopsy and will be lost in the process.   Additionally, there can be cases of misdiagnosis (where it is unclear whether the embryo is competent or may appear to be abnormal).  Some reserachers even suggest that a day 3 embryo may show chromosomal issues that perhaps would be able to self-correct – but there is very little data to date to support this theory.  Additionally, there is some evidence that would suggest a PGD embryo may have a slightly lower likelihood of implantation compared to an embryo that has not been biopsied. 

Often cost can be a significant consideration in deciding whether to do PGD testing.  In the US, PGD testing can cost around $4000 -$5000 or more (depending on which set of chromosomes are tested), in Europe the costs start around $2000 and increase depending on the number of embryos tested and what testing is done.  This can add a significant expense to an IVF cycle – so it is important to understand the risks and benefits for your specific case. 

For all of these reasons, PGD is a procedure that should be discussed with your RE (reproductive doctor) so that together you can come up with the best plan for your particular case and circumstances.

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2 Responses to PGD – pre-implantation genetic diagnosis

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  2. Isaac says:

    This is great advice. I ohgutht a lot up front about the decisions I’d need to make during my fertility treatments from how many embryos to implant to what I’d do if I had higher order mulitiples (I, and my clinic, are very very conservative, but there was one time we had to explore the possibility of multiples, even though it was unlikely). I like to make informed decisions, so I did the research up front when I had a clear head, which made it easier during my cycles. Things might have come up that I didn’t expect, but I had done so much research and ohgutht things through so well that most decisions came pretty easy to me. (You’d think there was no one else making decisions the way I’m writing, but I’m married. He never felt strongly opposed to anything and generally agreed with my ohguthts.)