中文摘要：

目前已知的单基因遗传病超过7000余种，大多数尚缺乏有效的治疗手段。胚胎植入前遗传学诊断（preimplantation genetic diagnosis, PGD）是辅助生殖与遗传诊断相结合的一项技术，是产前诊断的一种早期形式。它通过对植入前胚胎的遗传分析，挑选正常的胚胎移植，可以避免单基因疾病遗传给后代。目前PGD技术已在临床上成功应用20余年。本文针对单基因遗传病的PGD方法进行综述。

英文摘要：

More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis （PGD） is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.