| 李晓菲,岳嵩,王晶晶,孙夫丽,马玉庆,姚苓,王莉,张铁娟,韩吉晶,吴青青.基于孕11~13+6周不同颈项透明层厚度增加标准建立模型筛查高风险人群21-三体综合征[J].中国医学影像技术,2020,36(11):1671~1674 |
| 基于孕11~13+6周不同颈项透明层厚度增加标准建立模型筛查高风险人群21-三体综合征 |
| Screening of 21-trisomy syndrome at 11-13+6 weeks in high-risk population using models established with different nuchal translucency increasing criteria |
| 投稿时间：2019-10-10 修订日期：2020-08-30 |
| DOI：10.13929/j.issn.1003-3289.2020.11.019 |
| 中文关键词: 胎儿 颈项透明层 唐氏综合征 超声检查,产前 |
| 英文关键词:fetus nuchal translucency Down syndrome ultrasonography, prenatal |
| 基金项目:北京市医院管理中心"青苗"计划专项（QML20191403）、北京市科委首都健康保障培育项目（Z181100001618012）、北京市自然科学基金（7164259）。 |
| 作者 | 单位 | E-mail | | 李晓菲 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 岳嵩 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 王晶晶 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 孙夫丽 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 马玉庆 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 姚苓 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 王莉 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 张铁娟 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 韩吉晶 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | | | 吴青青 | 首都医科大学附属北京妇产医院超声科, 北京 100026 | qingqingwu@ccmu.edu.cn |
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| 中文摘要: |
| 目的 观察11~13+6孕周21-三体综合征胎儿超声表现，探讨应用不同颈项透明层（NT）增厚标准建立的模型针对高风险人群筛查11~13+6孕周21-三体综合征胎儿的效能。方法 回顾性分析经胎儿染色体检查确诊为21-三体综合征的106胎（阳性组）及染色体正常（阴性组）1 391胎孕11~13+6周胎儿。记录2组超声标记出现情况。采用不同NT增厚标准（NT>第95百分位数、NT≥3.0 mm及NT≥3.5 mm）建立筛查21-三体综合征胎儿回归方程，评价其一致性及筛查效能。结果 阳性组72胎（72/106，67.92%）出现超声标记，以NT增厚（>第95百分位数）[70/106（66.04%）]最多见；阴性组89.58%（1 246/1 391）胎儿超声未见异常。以NT>第95百分位数定义NT增厚，筛查胎儿21-三体综合征的敏感度为66.04%，高于以NT≥3.0 mm（χ2=18.05）及NT≥3.5 mm（χ2=23.04）为标准（P均<0.01）。Logistic回归分析显示，孕妇高龄、胎儿NT增厚、鼻骨缺失及胎儿水肿4项指标为筛查胎儿21-三体综合征的有效标记（P均<0.05）。以不同NT增厚标准制定筛查21-三体综合征回归方程，以NT>第95百分位数与NT≥3.0 mm为NT增厚标准制定方程的拟合优度好（χ2=4.45、0.83，P=0.11、0.36），其筛查21-三体综合征胎儿敏感度、特异度及AUC分别为66.00%、90.50%、0.78和50.00%、92.80%及0.70（P均<0.05）。结论 以NT>第95百分位数为胎儿NT增厚标准制定的回归方程筛查高风险人群11~13+6周胎儿21-三体综合征的效能较佳。 |
| 英文摘要: |
| Objective To observe the ultrasonic manifestations of fetal 21-trisomy syndrome at 11-13+6 weeks of gestation, and to explore the efficacy of screening fetuses with 21-trisomy syndrome at 11-13+6 weeks in high-risk population using models established with different nuchal translucency (NT) increasing criteria. Methods Data of 106 fetuses with 21-trisomy syndrome (positive group) and 1 391 fetuses with normal chromosome (negative group) confirmed by chromosome examination at 11-13+6 weeks gestation were retrospectively analyzed. The occurrence rates of ultrasonic markers were recorded. Equations for screening 21-trisomy syndrome were established taken different increasing NT criteria (i.e. NT>95th centile, NT≥3.0 mm and NT≥3.5 mm), and the relative consistency and screening efficacy were evaluated. Results In positive group, 72 fetuses (72/106, 67.92%) were found with ultrasonic markers, and increased NT (>95th centile) (70/10, 66.04%) was the most common, while the majority of negative group (1 246/1 391, 89.58%) showed no ultrasonic abnormality. The sensitivity of increased NT defined with NT>95th centile for screening 21-trisomy syndrome was 66.04%, higher than that with NT≥3.0 mm (χ2=18.05) and NT≥3.5 mm (χ2=23.04) (both P<0.01). Logistic regression analysis showed that increased NT, advanced maternal age of pregnant women, absent fetal nasal bone and hydrops fetalis were indicators for screening fetal 21-trisomy syndrome (P<0.05). Among models established with different NT thickening standards, the goodness of fit of models with the standards of NT>95th centile and NT≥3.0 mm were both good (χ2=4.45, 0.83, P=0.11, 0.36), with the sensitivity, specificity and AUC were 66.00%,90.50%,0.78 and 92.80%, 0.78 and 50.00%,92.80% and 0.70,respectively(both P<0.05). Conclusion Taken NT>95th centile as the criterion of NT thickening, the regression equation established was relatively effective in screening fetuses with 21-trisomy syndrome in high-risk population at 11-13+6 weeks of gestation. |
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