摘要
目的 探讨扩展性无创产前基因检测(NIPT-plus)技术在产前筛查中的应用价值。方法 收集南方医科大学珠江医院及南方医科大学第七附属医院2018年1月-2021年6月的NIPT-plus数据,并对结果提示胎儿染色体异常高风险的孕妇行羊膜腔穿刺胎儿染色体检查进行验证,分析其检测的阳性预测值、阴性预测值,并随访胎儿的预后。结果共检测2191例孕妇,发现异常38例,阳性率为1.7%,其中染色体拷贝数变异6例。共31例行羊膜腔穿刺验证,其中18例NIPT-plus结果与羊膜腔穿刺结果相符,总的阳性预测值为58.1%、阴性预测值为100.0%。共5例染色体拷贝数变异进行产前诊断,其中3例产前诊断结果与NIPT-plus结果相符,阳性预测值为60.0%。结论 对有发生胎儿染色体异常风险的孕妇,将NIPT-plus用于产前初筛有一定的警示价值。
Objective To evaluate the application value of extended non-invasive prenatal genetic testing(NIPT-plus)in prenatal screening.Methods All the NIPT-plus data were collected from Zhujiang Hospital of Southern Medical University and the Seventh Affiliated Hospital of Southern Medical University from January 2018 to June 2021.The abnormal results of NIPT-plus were validated by fetal chromosome examination through amniocentesis.The positive predictive value and negative predictive value of NIPT-plus were analyzed,and the fetal prognosis was followed up.Results A total of 2191 cases were detected,and 38 cases were abnormal(positive rate was 1.7%),among which 6 cases were chromosomal copy number variation.A total of 31 cases were confirmed by amniocentesis,of which 18 cases were consistent with the results of NIPT-plus.The total positive predictive value of NIPT-plus was 58.1%,and the negative predictive value was 100.0%.There were 5 cases of chromosome copy number variation for prenatal diagnosis,of which 3 cases were consistent with the results of NIPT-plus test and the positive predictive value was 60.0%.Conclusion The use of NIPT-plus in prenatal screening has a certain warning value for pregnant women with risk of fetal chromosomal abnormalities.
作者
肖苑玲
李萌
郑桂云
潘石蕾
杨芳
郑少萍
Xiao Yuan-Ling;Li Meng;Zheng Gui-Yun;Pan Shi-Lei;Yang Fang;Zheng Shao-Ping(Obstetrics and Gynecology Center,Zhujiang Hospital,Southern Medical University,Guangzhou,Guangdong 510280,China;Department of Obstetrics,the Seventh Affiliated Hospital of Southern Medical University,Foshan,Guangdong 528244,China;The Second Clinical Medical College of Southern Medical University,Guangzhou,Guangdong 510280,China)
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2023年第3期292-297,共6页
Medical Journal of Chinese People's Liberation Army
基金
广东省教育厅高水平大学建设经费南方医科大学临床研究启动项目(LC2016PY035)。
关键词
扩展性无创产前基因检测
产前筛查
超声
extended noninvasive prenatal genetic testing
prenatal screening
ultrasound
