cffDNA浓度低NIPT检测失败样本的相关因素和妊娠结局分析  

Analysis of correlation factors and pregnancy outcomes in failed NIPT samples with low cffDNA concentration

作　　者：杨洁霞[1] 王东梅[1] 侯亚萍[1] 郭芳芳[1] 彭海山[1] 胡听听 吴菁[1] Yang Jiexia;Wang Dongmei;Hou Yaping;Guo Fangfang;Peng Haishan;Hu Tingting;Wu Jing(Guangdong Women and Children Hospital,Medical Genetics Center,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2023年第3期31-36,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨分析胎儿游离DNA(cffDNA)浓度低无创产前基因检测(NIPT)检测失败样本的相关因素和妊娠结局。方法回顾性收集在2017年至2022年期间在广东省妇幼保健院接受NIPT检测,经两次采集外周血均因cffDNA浓度低NIPT检测失败的样本信息,包括孕妇的临床资料、产前诊断结果、超声结果以及妊娠结局。评估导致cffDNA浓度低相关因素以及后续残余风险。结果两次采血因cffDNA浓度低NIPT检测失败标本39例,其中双胎10例(25.64%),双胎之一停育/减胎7例(17.95%)。接受介入性产前诊断13例(33.33%),均未检出胎儿染色体异常。孕期超声发现胎儿发育异常9例(23.08%),胎儿宫内发育迟缓6例(15.38%)。所有孕妇均追踪到妊娠结局,其中早产10例(25.64%),自然流产2例(5.13%)。结论对于NIPT检测失败的病例,应明确原因,孕期出现并发症和不良妊娠结局风险增加,应建议接受进一步的遗传咨询、产前诊断和定期超声监测胎儿生长发育。Objective To explore the related factors and Pregnancy outcomes that lead to NIPT detection failure with low cffDNA concentration.Methods Retrospectively collect the sample information of NIPT tests received in Guangdong Women and Children Hospital from 2017 to 2022,and the samples collected twice failed to detect NIPT due to low cffDNA concentration,including clinical data of pregnant women,Prenatal testing results,ultrasound results and pregnancy outcomes.Evaluate the factors associated with low cffDNA concentration and subsequent residual risks.Results 39 cases were detetion failed by NIPT,among them indud 10(25.64%)twins and 7(17.95%)twins who had one of the twins vanished.13(33.33%)cases received interventional Prenatal testing,and no fetal chromosome abnormality was detected.During pregnancy,ultrasound revealed 9 cases(23.08%)of abnormal fetal development and delayed intrauterine growth was 6 cases(15.38%).All pregnant women were followed up pregnancy outcomes,which includ 10 cases of premature birth(25.64%)and 2 cases of spontaneous abortion(5.13%).Conclusions For the cases with failed NIPT detection,firstly,it is recommended to darify the reasons for the detection failure.Then,due to the increased risk of complications and adverse pregnancy outcomes during pregnancy,further Genetic counseling,prenatal examination and regular ultrasound monitoring of fetal growth and development should be recommended for all cases.

关 键 词：无创产前检测(NIPT) cffDNA浓度 检测失败 妊娠结局 

分 类 号：R714.55[医药卫生—妇产科学]