无创产前检测在产前筛查中的应用价值  

The application value of non-invasive prenatal testing in prenatal screening

作　　者：徐晶晶[1] 耿志欣 Xu Jingjing;Geng Zhixin(Department of Obstetrics,The Affiliated Suqian First People's Hospital of Nanjing Medical University,Suqian 223800,China;Department of Laboratory,The Affliated Suqian First People's Hospital of Nanjing Medical University,Suqian 223800,China)

机构地区：[1]南京医科大学附属宿迁第一人民医院产科,江苏宿迁223800 [2]南京医科大学附属宿迁第一人民医院检验科,江苏宿迁223800

出　　处：《实用妇科内分泌电子杂志》2023年第17期100-102,共3页Electronic Journal of Practical Gynecological Endocrinology

摘　　要：目的探讨无创产前检测在产前筛查中的应用价值。方法选取18764例行无创产前检测的孕妇为研究对象,并依次进行血清学检测、无创产前检测、羊膜腔穿刺检查。以羊膜腔穿刺检查结果为准,计算无创产前检测的阳性预测值。结果18764例无创产前检测孕妇中共筛出221例高风险孕妇,阳性检出率为1.17%;其中性染色体异常高风险最高(36.65%),其次为其他异常高风险(28.05%)、高风险T21(18.10%)、高风险T13(9.05%)、高风险T18(8.14%)。118例孕妇行羊膜腔穿刺检查,最终确诊58例胎儿染色体异常,无创产前检测阳性预测值为49.15%。结论无创产前检测在筛查胎儿染色体数目异常方面具有较好的应用价值,但其阳性预测值相对较低,因此建议针对无创产前检测高风险孕妇应安排羊膜腔穿刺检查,以便给予更客观的产前指导建议。Objective To explore the application value of non-invasive prenatal testing in prenatal screening.Methods 18764 pregnant women who underwent non-invasive prenatal testing were selected as the research subjects,and serological testing,non-invasive prenatal testing,and amniocentesis were performed sequentially.Calculate the positive predictive value of non-invasive prenatal testing based on the results of amniocentesis examination.Results A total of 221 high-risk pregnant women were screened out of 18764 non-invasive prenatal testing pregnant women,with a positive detection rate of 1.17%;Among them,sex chromosome abnormalities have the highest risk(36.65%),followed by other abnormalities with high risk(28.05%),high-risk T21(18.10%),high-risk T13(9.05%),and high-risk T18(8.14%).118 pregnant women underwent amniocentesis,and 58 fetal chromosomal abnormalities were ultimately confirmed.The positive predictive value of non-invasive prenatal testing was 49.15%.ConclusionNon invasive prenatal testing has good application value in screening for fetal chromosomal abnormalities,but its positive predictive value is relatively low.Therefore,it is recommended to arrange amniocentesis for high-risk pregnant women with non-invasive prenatal testing,in order to provide more objective prenatal guidance.

关 键 词：无创产前检测 产前筛查 产前诊断 羊膜腔穿刺检查 

分 类 号：R714.5[医药卫生—妇产科学]