无创产前检测的临床应用及随访研究  

The clinical application and follow-up study of f non-invasive prenatal testing

作　　者：赖允丽[1] 陈筠[1] 易升[1] 周林 易赏 雷亚琴[1] 郑海洋[1] 林飞[1] 邬玲仟[3] 韦红卫[4] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁530000 [2]山东省聊城市东昌府区妇幼保健院,252200 [3]中南大学医学遗传学国家重点实验室,长沙410078 [4]广西壮族自治区妇幼保健院妇产科,南宁530000

出　　处：《重庆医学》2016年第11期1491-1495,共5页Chongqing medicine

基　　金：国家科技支撑计划项目(2014BAI06B03);广西医疗卫生适宜技术研究与开发项目(S201543)

摘　　要：目的采用大规模平行测序检测胎儿染色体疾病,通过全面随访,为无创产前检测(NIPT)的临床应用提供有效的数据支持及遗传咨询方案。方法唐氏筛查高风险的孕妇接受NIPT,结果提示高危者进行核型确诊,低危者进行生育前后随访。结果 (1)NIPT提示胎儿异常25例,异常率为1.49%,核型确诊异常12例,均已引产,NIPT对T21、T18、XO、XXY、XYY的准确性依次为99.93%、100.00%、99.66%、100.00%、100.00%;在高龄妊娠和双胎妊娠中对T21/T18的准确性达100.00%;产前阳性干预率达100.00%。(2)NIPT提示低风险1 651例,完成随访1 468例,成功率为88.91%,发现1例9号染色体倒位(母源性)。(3)B超检测染色体异常准确率达98.17%,检出率仅7.69%;唐氏筛查高风险人群的准确率仅为0.88%,假阳性率高达99.12%;NIPT避免了98.71%的孕妇进行介入性产前诊断。结论 NIPT作为现有产前检测技术的重要补充,为寻找最合适的产前筛查模式提供参考。在医疗机构建立健全NIPT随访和服务系统对降低出生缺陷疾病尤为重要。Objective To provide valid data and useful genetic counseling in the clinical application of non-invasive prenatal test（NIPT）,fetal chromosomal disorder were screened by massive parallel sequencing and made a follow-up study.Methods Pregnant women with Down screening in high-risk were screened by NIPT;NIPT verified high-risk individuals were suggested for karyotyping;and we follow up on whoever showed low risk by NIPT before and after their deliveries.Results（1）Totally 1 676 cases of pregnant women were tested by NIPT,25 cases prompted to be abnormal,with an abnormal rate of 1.49%,karyotype analysis results in 12 cases of abnormalit,the accuracies of NIPT for T21,T18,XO,XXY,and XYY were 99.93%,100.00%,99.66%,100.00%,100.00%respectively;the accuracy of NIPT for women with advanced paternal age and twins were both 100.00%;karyotyping positive individuals underwent abortion,which gives a prenatal intervention rate of 100.00%.（2）Out of 1 651 cases of NIPT low risk testers,1 468 cases were successfully followed up,with a 88.91% success rate.We found chromosome abnormality with one case of inversion of chromosome 9（maternal）.（3）Ultrasound-detection possessed 98.17% accuracy and 7.69%in detection rate;in high-risk pregnant woman,Down screening had an accuracy of 0.88% and false positive rate of 99.12%;98.71%women were avoided prenatal diagnosis via NIPT.Conclusion Compare to ultrasound and maternal plasma screening,NIPT is a far more accurate prenatal screening approach.To build effective follow-up and service systems of NIPT is necessary to reduce birth defects in medical institutions.

关 键 词：无创产前检测 染色体疾病 超声检测 唐氏筛查高风险 随访研究 

分 类 号：R714.55[医药卫生—妇产科学]