Preimplantation Genetic Diagnosis or Embryo Screening

Where to start:

• Check out the following Creating a Family radio shows:
  • May 18, 2011: Gender Selection When Trying to Conceive (Listen Now)
  • March 3, 2010: Preimplantation Genetic Diagnosis and Embryo Screening (Listen Now)
  • October 8, 2008: Preimplantation Genetic Diagnosis/Embryo Screening

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Articles and Other Resources on PGD/PGS and Embryo Screening:

• On the December 2, 2008 Creating a Family radio show, Dr. Joe Massey reported on some of the latest findings on the effectiveness of PGD in increasing pregnancy rates. The results have been disappointing. It is still useful for identifying diseases, but not necessarily for identifying which embryos will likely implant and grow.
• The American Society for Reproductive Medicine practice guideline for preimplantation genetic testing states that "the available evidence does not support the use of PGS [preimplantation genetic screening] to improve live-birth rates in patients with advanced maternal age, previous implantation failure, recurrent pregnancy loss, or to reduce miscarriage rate in patients with recurrent pregnancy loss related to aneuploidy at this time." This caution does not apply to preimplantation genetic diagnosis where one or both of the parents are at risk for transmitting genetic diseases or chromosonal abnormalities to their children. The text of the Practice Guideline is not available to non members, so I have linked to the press release.
• Preimplantation Genetic Diagnosis by Dr. J. J. Marik (2005) This is a good overview for the lay person. Although it was published in 2005, the information is still mostly current.
• The National Public Radio show All Things Considered had a program on Screening Embryos for Disease in December 2006. It is a great and compassionate introduction to the concept. You can either listen ot it as a podcast (about 12 minutes in length) or read the transcript.
• The BBC ran an article in June 2006 titled "Embryo test offers parents hope" that did an admirable job of covering the pracitcal and ethical issues involved.
• Genetic testing of embryos: practices and perspectives of U.S. IVF clinics by Susannah Baruch, J.D., David Kaufman, Ph.D., and Kathy L. Hudson, Ph.D published in Fertility and Sterility in Sept. 2006. This is an absolutely fascinating summary of the current practic of PGD in the US. It's not light reading and I wouldn't attempt it unless you are really wanting to delve into the depths of this subject.

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Research:

• The largest study to date of pregnancies and subsequent births of children conceived after undergoing preimplantation genetic diagnosis (PGD) was published in the January 2010 issue of the journal Human Reproduction. This study attempts to determine whether removing a cell or two from an embryo to screen it for inherited conditions or genetic abnormalities can, in itself, impair the health of the subsequent pregnancies or births. Summary of this study.
• A study in the July issue of Molecular & Cellular Proteomics suggests that Preimplantation Genetic Diagnosis (PGD) may have some negative neurological consequences in adulthood. Summary of this study.