无创DNA检测13-三体高Z值假阳性病例1例分析  

One False Positive Case with High Z Value of Trisomy 13 by Non-invasive DNA Testing

作　　者：高旭[1] 王清冰 陈义兵[1] GAO Xu;WANG Qingbing;CHEN Yibing(Genetics and Prenatal Diagnosis Center of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第一附属医院妇产科遗传与产前诊断中心,河南郑州450000

出　　处：《河南医学研究》2023年第14期2685-2688,共4页Henan Medical Research

摘　　要：本文报道1例无创13-三体高Z值(19.18)假阳性产前遗传学诊断的经过及结果。孕妇于孕18周因血清学筛查临界风险行无创产前检测,结果提示胎儿13号染色体Z值为19.18,故于孕19周行胎儿羊水染色体核型分析及拷贝数变异(CNV)检测。产前诊断结果提示羊水核型为46,XN,CNV结果为seq[hg19]46,XN。胎儿无创产前DNA筛查易出现13-三体高风险假阳性,其阳性预测值较低,即使Z值较大不能排除假阳性,侵入性产前诊断对于明确13-三体胎儿仍具有不可替代的价值。This paper reports the history and results of a noninvasive false-positive prenatal genetic diagnosis with a high Z-value(19.18)of trisomy 13.Non-invasive prenatal testing was performed at 18 weeks of gestation due to critical risk of serological screening.The results indicated that the Z-value of fetal chromosome 13 was 19.18,so karyotype analysis of fetal amniotic fluid and copy number variation(CNV)detection were performed at 19 weeks of gestation.Prenatal diagnosis results showed that amniotic karyotype is 46,XN and CNV is seq[hg19]46,XN.Non-invasive prenatal DNA screening of fetuses is prone to false positives with high risk of trisomy 13,and its positive predictive value is low.Even if a large Z-value cannot exclude false positives,invasive prenatal diagnosis is still of irreplaceable value in identifying trisomy 13 fetuses.

关 键 词：无创产前DNA 13-三体Z值 假阳性 

分 类 号：R715.5[医药卫生—妇产科学]