Edinburgh Fertility and Reproductive Endocrine Centre

Project:

Genetic Analysis of Human Preimplantation Embryos (R0181)

Centre:

Edinburgh Fertility and Reproductive Endocrine Centre (0201)

Lay Summary

Preimplantation Genetic Diagnosis (PGD) is a technique used to test early human embryos for the presence of a specific genetic disease before implantation into the womb and is useful for couples who have a family history of genetic disease.

To carry out PGD, sophisticated genetic analysis of single cells is required and such tests have not always been reliable or consistent and have also proved extremely costly to develop. A new technique has recently been discovered which greatly enhances the amount of genetic information which can be generated from a single cell and use of this technique may simplify the PGD procedure significantly.

The aims of this project are to apply this new technology to single cells and then to expand substantially the downstream genetic analysis using high-density genotyping. We will then test the reliability and accuracy of such methods on single embryonic cells and assess whether such technology can be used to develop a basic test for aneuploidy as well as the specific risk analysis for each embryo.