厦门地区7154例无创产前筛查结果的回顾性分析  

A retrospective analysis of 7154 cases of noninvasive prenatal screening in Xiamen region

作　　者：张彧梅[1] 苏志琳[1] 邱惠国[1] ZHANG Yumei;SU Zhilin;QIU Huiguo(Department of Clinical Laboratory,the First Affiliated Hospital of Xiamen University/Xiamen Key Laboratory of Xiamen 361002,China)

机构地区：[1]厦门大学附属第一医院检验科(厦门市基因检测重点实验室),福建厦门361002

出　　处：《延边大学医学学报》2024年第4期462-465,共4页Journal of Medical Science Yanbian University

摘　　要：目的:探讨无创产前筛查(NIPT)在孕妇产前筛查中的应用价值。方法:对厦门大学附属第一医院检验科2022年1月至12月收取的各家医院共7154份NIPT结果进行回顾性分析,对于结果异常的孕妇,建议其进一步进行遗传咨询、产前诊断,并对其妊娠结局进行电话回访。结果:在7154例行NIPT的孕妇中,提示21-三体综合征(T21)、18-三体综合征(T18)、13-三体综合征(T13)高风险15例,其中确诊9例,复合检出率为100.00%,复合阳性预测值为60.00%;NIPT对T21、T18、T13高风险的检测灵敏度为100.00%,特异度为99.92%。结论:NIPT应用于T21、T18、T13筛查中有很高的综合检出率,尤其对T21检出率最高,对T18、T13和性染色体异常也具有较高的提示价值。NIPT比羊水穿刺创伤小,准确率高,患者容易接受,可作为孕妇产前筛查的有效辅助手段。Objective To explore the application value of noninvasive prenatal testing(NIPT)in prenatal screening of pregnant women.Methods A total of 7154 NIPT results collected from various hospitals from January 2022 to December 2022 by the Clinical Laboratory Department of the First Affiliated Hospital of Xiamen University were retrospectively analyzed.For pregnant women with abnormal results,it was recommended to have further genetic consultation,prenatal diagnosis,and telephone follow-up for their pregnancy outcomes.Results Among 7154 pregnant women who underwent NIPT,15 cases were suggested to be at high risk of trisomy 21 syndrome(T21),trisomy 18 syndrome(T18)and trisomy 13 syndrome(T13),of which 9 cases were confirmed,the composite detection rate was 100.00%,and the composite positive predictive value was 60.00%.The sensitivity and specificity of NIPT for T21,T18 and T13 were 100.00%and 99.92%respectively.Conclusion The application of NIPT in the screening of T21,T18 and T13 has a high comprehensive detection rate,especially the highest detection rate for T21,and also has a high suggestive value for T18,T13 and sex chromosome abnormalities.Compared with amniocentesis,NIPT has less trauma,higher accuracy and is easily accepted by patients,and can be used as an effective auxiliary means for prenatal screening of pregnant women.

关 键 词：无创产前筛查 胎儿游离DNA 21-三体综合征 染色体非整倍体 

分 类 号：R715[医药卫生—妇产科学]