Abstract

Since the first report of preimplantation genetic diagnosis success in clinical in 1989, it is technological development that has been the driving force of preimplantation genetic testing(PGT). As the early stage prenatal diagnosis, PGT is used in the setting of assisted reproduction to differentiate the genetically normal embryos from pathogenic mutations or chromosomal anomalies in order to increase the rates of fruitful pregnancy. PGT involves technologies of assisted reproduction, molecular detection and genetic counseling. The aim of this review is to, from the perspective of laboratory medicine, summarize the utilization and progress of molecular strategies in the field of PGT, and explore its future development.(Chin J Lab Med, 2018, 41: 270-274) Key words: Preimplantation genetic testing; Embryonic biopsy; Whole genome amplification; Next generation sequencing

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