孙玲玲,邓学东,姜纬,王挺,孙健.中孕期超声软指标在胎儿染色体筛查中的价值[J].中国医学影像技术,2016,32(5):765~768
中孕期超声软指标在胎儿染色体筛查中的价值
Value of the second trimester ultrasound markers in fetal chromosomal abnormality screening
投稿时间:2015-07-28  修订日期:2015-11-03
DOI:10.13929/j.1003-3289.2016.05.034
中文关键词:  胎儿  超声检查,产前  指标  染色体异常
英文关键词:Fetus  Ultrasonography, prenatal  Markers  Chromosomal abnormalities
基金项目:
作者单位E-mail
孙玲玲 南京医科大学附属苏州医院超声中心, 江苏 苏州 215002  
邓学东 南京医科大学附属苏州医院超声中心, 江苏 苏州 215002  
姜纬 南京医科大学附属苏州医院超声中心, 江苏 苏州 215002 longfellowjw@sina.com 
王挺 南京医科大学附属苏州医院生殖遗传中心, 江苏 苏州 215002  
孙健 南京医科大学附属苏州医院生殖遗传中心, 江苏 苏州 215002  
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中文摘要:
      目的 探讨中孕期超声软指标在胎儿染色体异常筛查中的应用价值。方法 对757例单胎妊娠高危孕妇行中孕期超声检查,观察以下超声软指标:胎儿颈部软组织有无增厚、胎儿鼻骨存在与否、有无脉络丛囊肿、有无轻度侧脑室增宽、有无心室强回声点、有无肠管强回声、有无肾盂轻度扩张及单脐动脉。之后所有孕妇均接受羊水穿刺行胎儿染色体核型分析。结合胎儿软指标及染色体核型结果,统计分析超声软指标与胎儿染色体异常的关系。结果 757胎胎儿中,软指标阳性200胎(200/757, 26.42%),阴性557胎(557/757,73.58%);染色体异常56胎。其中软指标阳性胎儿中,染色体异常39胎。颈部软组织增厚及鼻骨缺失是与胎儿染色体异常关系最密切的两项软指标(P均<0.01)。结论 高危孕妇中,软指标阳性胎儿染色体异常发生率高于软指标阴性胎儿。不同超声软指标在预测胎儿染色体异常中价值不同,其中颈部软组织增厚及鼻骨缺失意义最大。
英文摘要:
      Objective To discuss the value of the second trimester ultrasound markers in fetal chromosomal abnormality screening. Methods Second trimester ultrasound examination was performed on 757 high risk singleton pregnancies. The ultrasound markers included thickened nuchal fold, absent nasal bone, choroid plexus cysts, mild ventriculomegaly, echogenic intracardiac focus, echogenic bowel, mild pyelectasis and single umbilical artery. All of 757 fetuses accepted amniocentesis for karyotype analysis. Statistical analysis was carried out based on the results of both ultrasound markers and fetal karyotypes. Results Among the 757 fetuses, 200 fetuses (200/757, 26.42%) presented with ultrasound markers, and 557 fetuses without markers (557/757, 73.58%); 56 fetuses (56/757, 7.40%) detected with chromosomal abnormalities. In 200 fetuses with ultrasound markers, 39 fetuses found with chromosomal abnormalities. Thickened nuchal fold and absent nasal bone were the markers most associated with chromosomal abnormalities (both P<0.01). Conclusion The presence of markers on the second trimester ultrasound, especially thickened nuchal fold and absent nasal bone increase the risk of chromosomal abnormalities among high risk pregnant women.
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