重新采血检测对于低胎儿游离DNA浓度导致的无创产前检测失败病例的价值  

The value of re-sampling for patients who had failed non-invasive prenatal testing due to low cell-free fetal DNAfraction

作　　者：赵干业 代鹏[1] 郜珊珊 王聪慧 赵学潮 刘莉娜 孔祥东[1] Zhao Ganye;Dai Peng;Gao Shanshan;Wang Conghui;Zhao Xuechao;Liu Lina;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Af filiatedHospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院妇产科遗传与产前诊断中心,郑州450052

出　　处：《中华医学遗传学杂志》2022年第2期135-138,共4页Chinese Journal of Medical Genetics

基　　金：郑州大学第一附属医院院内青年创新基金;河南省科技攻关计划(202102310391)。

摘　　要：目的―探讨重新采血检测对于胎儿游离DNA(cell free fetal DNA,cffDNA)浓度过低导致的无创产前检测(non-invasive prenatal testing,NIPT)失败病例的价值。方法收集2019年1月至2019年12月接受NIPT检测的20387例孕妇的临床资料,对因cffDNA浓度过低而首次检测失败的孕妇重新采血进行检测,分析检测结果并随访妊娠的结局。结果17例因cffDNA浓度未达到要求而首次检测失败者全部接受了重新采血,重采率为0.08%。二次采血后有16例获得成功,成功率为94.12%。1例样本因两次cffDNA浓度均不达标而检测失败。结论︰因cffDNA浓度过低导致检测失败时,若孕周合适同时超声未发现严重异常则建议进行重新采血检测。Objective To assess the value of re-sampling for patients who had failed non-invasiveprenatal testing(NIPT)due to low cell-free fetal DNA(cffDNA)fraction.Methods Clinical data of 20387patients undergoing NIPT test was reviewed.The patients were re-sampled when initial blood test did notyield a result due to cffDNA fraction.The results were analyzed,and the outcome of pregnancy wasfollowed up.Results Among all samples,17(0.08%)had failed to yield a result due to low cffDNAfraction,all of which accepted re-sampling.A result was attained in 16 cases,with a success rate of94.12%.Only one sample had failed the re-test.Conclusion For patients who had failed the initial NIPTdue to low cffDNA fraction,re-sampling should be considered with gestational week and ultrasound resultstaken into consideration.

关 键 词：无创产前检测 胎儿游离DNA浓度 失败 重新采血 

分 类 号：R714.5[医药卫生—妇产科学]