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早、中孕期联合序贯筛查唐氏综合征结果分析

Analysis of Combined Sequential Screening Results for Down's Syndrome in the First and Second Trimester
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摘要 目的:探讨早中孕联合序贯筛查方法在分析唐氏综合征(DS)中的应用价值.方法:对2019年11月至2020年10月于本院进行DS血清学筛查病例进行回顾性分析.在早孕期(9~13周)对2114例患者血液样本进行DS筛查;在中孕期(15~20周)对2360例患者血液样本进行DS筛查;其中早孕期DS筛查结果为低风险,继续做中孕期DS筛查的病例有1371例.利用Life Cycle软件综合计算DS风险值.结果:2114例患者早孕期筛查标本中,高风险144例,诊断阳性3例,随访阳性3例,假阳性率6.68%;2360例中期DS筛查标本中,高风险149例,诊断阳性2例,随访阳性2例,假阳性率6.23%;分阶段序贯筛查方案的1371例样本中,高风险52例,诊断阳性2例,随访阳性2例,假阳性率3.65%.结论:相比仅进行早孕期筛查和仅进行中孕期筛查,早、中孕期联合序贯筛查假阳性率低,能减少DS儿的出生,对DS筛查更有应用价值. Objective:To explore the application value of the combined sequential screening method in the analysis of Down's syndrome(DS).Methods:The serological screening cases of DS in our hospital from November 2019 to October 2020 were retrospectively analyzed.In the first trimester(9-13 weeks),2114 samples were screened for DS;And 2360 samples were screened for DS in the second trimester(15-20 weeks).And 1371 cases with low risk retults DS screaning continued to do the second trimester DS screening.The risk value of DS was calculated by comprehensive calculation using Life Cycle software.Results:Among 2114 case of first trimester DS screening specimens,144 cases were high-risk,3 cases were positive for diagnosis,3 cases were positive for follow-up,and the false-positive rate was 6.68%.Among the 2360 cases of second trimester DS screening samples,149 cases were high-risk,2 cases were positive for diagnosis,2 cases were positive for follow-up,and the false-positive rate was 6.23%.Among the 1371 samples in the staged sequential screening program,52 cases were high-risk,2 cases were positive for diagnosis,2 cases were positive followed up,and the false-positive rate was 3.65%.Conclusion:Compared with the first trimester screening only and the second trimester screening only,the false positive rate of the combination of first-trimester and second-trimester sequential screening for DS is lower,which can reduce the birth of DS infants,and has application value for DS screening.
作者 胡鲤萍 吴智梅 张志梅 HU Li-ping;WU Zhi-mei;ZHANG Zhi-mei(Department of Clinical Laboratory,Xiamen Changgung Hospital,Xiamen 361028,China;Department of Obstetrics and Gynecology,Xiamen Changgung Hospital,Xiamen 361028,China)
出处 《四川解剖学杂志》 2022年第3期46-48,共3页 Sichuan Journal of Anatomy
关键词 早孕筛查 中孕筛查 序贯筛查 唐氏综合征 First trimester screening Second trimester screening Sequential screening Down's syndrome
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