【摘要】 孕妇血浆中已证实存在着胎儿来源的游离DNA。作为一种胎儿新的检测材料,游离胎儿DNA的发现为非侵入性产前基因诊断提供了可能。有关游离胎儿DNA的临床应用以及其生物学包括来源、动力学和性质等,近年来引起人们很大关注。实时定量PCR技术是目前检测孕妇血浆中游离胎儿DNA的主要方法。实验室的一些技术因素会影响游离胎儿DNA的检测。尽管有些问题还不很清楚,但母体血浆中游离胎儿DNA的检测对于胎儿遗传病和妊娠相关性疾病的非侵入性产前诊断仍具有重要临床意义。讨论孕妇血浆中游离胎儿DNA的最新研究状况。更多还原

【Abstract】 Cell-free fetal DNA has been demonstrated in maternal plasma.The discovery of cell-free fetal DNA in maternal plasma as a new fetal genetic material has provided a promising possibilities for the non-invasive prenatal diagnosis.Much attention has focused on the clinical application and the biology of cell-free fetal DNA including its origin,kinetics and characteristics.Real-time quantitative PCR technique is the major measurement method of cell-free fetal DNA.Additionally,some technical factors affecting the analysis of cell-free fetal DNA are currently under investigation.More recent studies show that the detection of cell-free fetal DNA in maternal plasma has revealed significant clinical potential for the noninvasive prenatal diagnosis of fetal genetic disorders and pregnancy-associated complications,however,some questions remains to be elucidated.This review summarizes the latest progress in research of cell-free fetal DNA in maternal plasma.更多还原