无创产前基因检测技术对胎儿染色体非整倍体异常高风险的检出分析  

Non-invasive Prenatal Genetic Testing Technology for the Detection and Analysis of Fetal Chromosomal Aneuploidy Abnormalities at High Risk

作　　者：查斌斌 范晓宇 张帅[1] ZHA Binbin;FAN Xiaoyu;ZHANG Shuai(Clinical Laboratory Center,Tai'an Central Hospital Affiliated to Qingdao University,Tai'an 271000,Shandong,China)

机构地区：[1]青岛大学附属泰安市中心医院临床检验中心,山东泰安271000

出　　处：《系统医学》2024年第16期122-124,共3页Systems Medicine

摘　　要：目的 分析无创产前基因检测技术对胎儿染色体非整倍体异常高风险的检出情况。方法 非随机选取2023年5月—2024年1月泰安市中心医院1 257例经进行羊水染色体核型检查的孕妇为研究对象,应用无创产前基因检测技术检查,统计无创产前基因检测技术检查结果和各类性染色体异常的检出数量,以羊水染色体核型分析为金标准,分析无创产前基因检测技术与其符合率。结果 以羊水染色体核型为金标准,检出18例阳性、1 239例阴性。无创产前基因检测技术检查诊断的准确度、灵敏度、特异度为99.84%(1255/1 257)、88.89%(16/18)、100.00%(1 239/1 239),与羊水染色体核型的Kappa值为0.940。结论 无创产前基因检测技术在筛查胎儿异常时具有较高的准确性和可靠性,可以帮助医护人员更早地发现可能存在的胎儿异常。Objective To analyze the detection of high risk of fetal chromosome aneuploidy by non-invasive prenatal gene detection technology.Methods A total of 1 257 pregnant women who underwent amniotic fluid karyotype examination in Tai 'an Central Hospital from May 2023 to January 2024 were non-randomly selected as the study objects.Non-invasive prenatal genetic testing technology was applied to examine the results of noninvasive prenatal genetic testing technology and the detected number of various sex chromosome abnormalities,and the analysis of chromosome karyotype in amniotic fluid was taken as the gold standard.The coincidence rate of non-invasive prenatal genetic testing was analyzed.Results Taking the karyotype of amniotic fluid as an example,18 cases were positive and 1 239cases were negative.The diagnostic accuracy,sensitivity and specificity of noninvasive prenatal genetic testing were 99.84%(1 255/1 257),88.89%(16/18),100.00%(1 239/1 239),and the Kappa value of chromosome karyotype with amniotic fluid was 0.940.Conclusion Non-invasive prenatal gene detection technology has high accuracy and reliability in screening such abnormalities,which can help medical staff find possible fetal abnormalities earlier,and give parents and doctors more time to make decisions and make psychological preparations.

关 键 词：染色体非整倍体异常 无创产前基因检测技术 检出率 

分 类 号：R596[医药卫生—内科学]