Abstract:

With the rapid development of preimplantation genetic diagnosis（PGD）technology in the past 20 years，the possible problems and risks have arisen at the same time.Attention should be paid to the problems from genetic counseling，embryo culture，embryo biopsy to genetic diagnosis.Allele drop-out and mosaicism in early stage of embryo were the main risk factors of misdiagnosis in current PGD methods.This paper analyzed the risk factors and coping measures in every step of PGD.

Key words: preimplantation genetic diagnosis, allele drop-out , mosacism

摘要：

植入前遗传学诊断（PGD）相关的技术在近20年迅猛发展，随之而来的是在技术应用时可能存在的问题和风险。从遗传咨询到胚胎培养、活检，再到遗传学诊断的各个环节都有需要引起重视的问题。等位基因脱扣和早期胚胎的染色体嵌合现象是目前诊断中最主要的导致误诊的风险因素。文章就目前PGD中各个可能的风险环节以及相应的应对措施进行阐述。

关键词: 植入前遗传学诊断, 单个等位基因脱扣, 染色体嵌合型