无创DNA检测在单项超声软指标异常中的应用价值  

Application value of noninvasive DNA detection in anomaly of single ultrasound soft marker

作　　者：胡仲任[1] 陈敏[2] 赖峥菲[2] 王佳燕[2] 李世泉[2] 

机构地区：[1]福建医科大学附属漳州市医院,福建漳州363000 [2]广州医科大学附属第三医院,广东广州510150

出　　处：《中国妇幼保健》2017年第9期2014-2017,共4页Maternal and Child Health Care of China

摘　　要：目的探讨无创DNA产前检测技术对单项超声软指标孕妇筛查胎儿染色体异常的临床价值。方法选取福建医科大学附属漳州市医院和广州医科大学附属第三医院2013-2015年孕期(≥12周)检查提示胎儿超声单项软指标阳性的病例1 076例均接受产前无创DNA检测,对筛查阳性病例再次行绒毛活检或羊水穿刺查染色体核型确诊。结果 1 076例胎儿中无创DNA提示高风险16例,阳性率1.5%;核型确诊异常15例,假阳性率6.25%。结论无创DNA产前检测技术可作为准确性较高的筛查方法,运用于单项超声软指标胎儿染色体检查获得满意结果,可减少介入性检查,避免流产、感染等风险。Objective To explore the clinical value of noninvasive DNA prenatal detection technique for screening fetal chromosomal abnormalities among pregnant women with anomaly of fetal single uhrasound soft marker. Methods From 2013 to 2015, 1 076 pregnant women （ ≥ 12 gestational week） with anomaly of fetal single ultrasound soft marker were selected from Zhangzhou Hospital Affiliated to Fu- jian Medical University and the Third Affiliated Hospital of Guangzhou Medical University, noninvasive DNA detection was performed, chori- onic villus biopsy or amniocentesis were carried out among the positive cases to detect chromosome karyotypes for definite diagnosis. Results Among 1 076 fetuses, 16 fetuses were found with high-risk, the positive rate was 1.5% ; 15 cases were diagnosed definitely, the false positive rate was 6. 25%. Conclusion As a screening method with high accuracy, noninvasive DNA prenatal detection technique can obtain satisfactory result used for fetal chromosomal examination among pregnant women with anomaly of fetal single ultrasound soft rnarker, and it can reduce interventional examination and avoid the risk of abortion and infection.

关 键 词：无创DNA检测 超声软指标 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]