Experts in Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) involves removal of one to 10 cells from human embryos developing in vitro and allows diagnosis of chromosome abnormalities at those early stages.  At the 2011 Annual Meeting of ESHRE, Reprogenetics researcher, Dr. Elpida Fragouli, was honored with the Basic Science Award for her work on alternatives to embryo biopsy and conventional PGD. Dr. Fragouli’s paper described her team’s work on testing cells associated with the egg and the follicle for altered patterns of gene expression and how the expression patterns were associated with normal and abnormal eggs. These cells, called cumulus cells, are typically discarded following egg collection since they are not needed. Dr. Fragouli found that certain alterations in the cumulus cells from given follicle significantly increased the likelihood of abnormalities in the embryo following fertilization of the egg from that same follicle. This approach is not as comprehensive as that of direct analysis of the chromosomes in an embryo following biopsy, however, it is intriguing because the technique is essentially non-invasive and does not require embryo biopsy.

In an interview on the BBC (11 July 2011), Dr. Fragouli noted: “We are still in the process of establishing the usefulness of these genes as non-invasive markers of egg chromosome status and quality. However, it is interesting that several of these genes are involved in vital cellular functions of the cumulus cells and the egg they enclose, such as cell signaling and regulation, hormonal response and cell death, and so they may shed light on the genetic origins of chromosome abnormality.”