Could Pre-Implantation (PGS) Testing Be Completed Non-Invasively?

Last week, the European Society for Human Reproduction and Embryology hosted their annual meeting in Barcelona. One of the interesting studies released was that from Igenomix, Improved concordance rates for aneuploidy detection in spent culture media compared to trophyectoderm biopsies: a step forward towards non-invasive pre-implantation genetic testing.”

Today, in order to complete the PGS testing process, the embryologist must perform a blastocyst biopsy in order to remove a small number of cells from the developing embryo at the blastocyst stage.  The pre-implantation genetic screening is then performed on the DNA from the obtained cells.

The study’s goal is to evaluate whether DNA shed by the developing embryo in the culture media could be utilized instead of the required biopsy.  A similar methodology is utilized with modern non-invasive prenatal testing (NIPT) in a process where fetal DNA is isolated from the mother’s bloodstream.

The potential benefits of non-invasive re-implantation genetic screening (NI-PGS) could include reduce costs and potential risks associated with an embryo biopsy.

The use of PGS testing with IVF has lead to improved implantation rates, reduced miscarriage rates and reduced the amount of time to pregnancy.

Under the current techniques utilized within this study, researchers have observed an approximate 85% concordance compared to traditional PGS techniques utilizing embryo biopsy.

“We are very close to achieving a significant milestone in the history of assisted reproduction, which would mean the end of embryo biopsy as a means of obtaining genetic information from the embryo. We need to continue this line of research to fully test the effectiveness of non-invasive PGS,” explained lead researcher Dr. Carmen Rubio.

Hopefully, soon patients will be able to have their PGS screening done with out the requirement of the embryo biopsy procedure.

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