基于胎儿游离DNA的产前检测失败因素的研究进展

Research progress in factors associated with cell-free fetal DNA prenatal testing failures

本文介绍了基于胎儿游离DNA(cell-free fetal DNA,cffDNA)的产前检测失败发生率和原因,以及检测失败后的应对措施。根据检测平台的不同,基于cffDNA的产前检测失败率也存在差异,一般为0.12%~8.09%,其中大规模平行测序的失败率最低。造成检测失败的原因主要有三:一是cffDNA浓度低于4%,属于最常见的原因;二是实验室检测过程中DNA提取、文库构建、测序、分析失败;三是检测前血液采集和样本运送到实验室出现的问题。在检测前应充分告知孕妇基于cffDNA的产前检测失败的可能性及相关风险,检测失败后为孕妇综合评估检测失败的原因及重复检测的可行性,制定个体化的产前遗传学检测方案。这对于缓解孕妇面临重复检测的焦虑或决定是否选择介入性产前诊断具有重要的临床意义。

This review describes the incidence and causes of prenatal testing failures and some countermeasures after the failure,which are based on cell-free fetal DNA(cffDNA).The failure rate of cffDNA prenatal testing varied from 0.12%to 8.09%,depending on the detection platform,and the lowest failure rate was found in massively parallel sequencing.Three factors are mainly responsible for cffDNA prenatal test failure.Firstly,the concentration of cffDNA is less than 4%,which is the most common cause.Secondly,the inability to perform DNA extraction,library construction,sequencing,or result analysis.Thirdly,incidents occurring in blood collection or sample delivery to the laboratory before testing.Before testing,pregnant women should be fully informed of the possibility and related risks of cffDNA prenatal testing failure.After a testing failure,the reasons for testing failure and the feasibility of repeated testing should be comprehensively evaluated,and an individualized prenatal genetic testing protocol should be formulated.Those measures would be of great clinical significance in alleviating the anxiety of pregnant women when facing repeat testing or the option of invasive prenatal diagnosis.