ABSTRACT

In the mid eighties, the development of PCR strategies for amplification of specific fragments of DNA from single cells1,2,3 paved the way for preimplantation genetic diagnosis (PGD) of inherited disease from one or more cells biopsied from embryos at preimplantation stages after IVF.4 As the human oocyte and embryo up to the expanded blastocyst stage are enclosed within the zona pellucida, any sampling procedure requires micromanipulation to penetrate this protective glycoprotein layer. The second challenge is to remove the target cells with minimal damage to the embryo again requiring micromanipulation. Various approaches have been advocated from biopsy of polar bodies at the zygote stage to removal of some of the outer trophectoderm (TE) cells from blastocysts and each has particular advantages and disadvantages (Table 14.1).5