[The latest development in preimplantation genetic diagnosis]

Preimplantation genetic diagnosis is the integration of both assisted reproductive technologies and molecular genetic technologies. Since the birth of the first healthy females after PGD in 1990, remarkable advances have been achieved in this field. Most research in PGD is focused on new methods to improve the sensitivity and accuracy of single cell analysis. The principal problems in single cell PCR include amplification failure, ADO and contamination. Fluorescent PCR with multiplex amplifications of highly polymorphic markers is a highly effective strategy to avoid contamination and detect ADO. The advantages and disadvantages of fluorescence in situ hybridization to detect age-related aneuploidy are still under debate. We summarize the most recent developments in this review, and also introduce our own experiences in PGD.