| 胡文婕,吴青青,王莉,姚苓,马玉庆,李晓菲,岳嵩,王晶晶,张铁娟,韩吉晶,梁娜,李菁华,张丽娜,张娟,孙夫丽,裴燕,张普庆.孕早期超声标记预测胎儿染色体异常[J].中国医学影像技术,2017,33(2):255~259 |
| 孕早期超声标记预测胎儿染色体异常 |
| Quantized ultrasonic makers of first trimester in prediction of chromosomal abnormalities in fetus |
| 投稿时间：2016-08-10 修订日期：2016-12-11 |
| DOI：10.13929/j.1003-3289.201608045 |
| 中文关键词: 超声检查,产前 早孕期 超声标记 染色体 相关性 |
| 英文关键词:Ultrasonography,prenatal First trimester Ultrasound marker Chromosome Relevance |
| 基金项目:北京市医院管理局“登峰”计划专项经费资助（DFL20151302）；首都临床特色应用研究专项项目（Z141107002514006）；北京市自然科学基金资助项目（7164259）；北京市医院管理局临床医学发展专项经费资助（XMLX201310）；北京市医院管理局临床医学发展专项经费资助（XMLX201604）。 |
| 作者 | 单位 | E-mail | | 胡文婕 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 吴青青 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | wuqq2007@163.com | | 王莉 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 姚苓 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 马玉庆 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 李晓菲 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 岳嵩 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 王晶晶 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 张铁娟 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 韩吉晶 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 梁娜 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 李菁华 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 张丽娜 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 张娟 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 孙夫丽 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 裴燕 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | | | 张普庆 | 首都医科大学附属北京妇产医院超声医学科, 北京 100026 | |
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| 中文摘要: |
| 目的 探讨孕早期用以筛查染色体异常的有效超声标记指标。方法 选择接受孕早期（11~13+6周）产前超声检查及产前诊断咨询并进行了有创性染色体检查的470例孕妇入组，调阅超声图像，分析孕早期超声标记与染色体异常的关联性，评估孕早期不同超声标记指标预测胎儿染色体异常的价值。结果 470例中，染色体异常184例（阳性组），染色体正常286例（阴性组）。阳性组中，21-三体63例，18-三体32例，13-三体4例，染色体结构异常46例，Turner综合征17例，其他性染色体异常19例，常染色体及其他非整倍体染色体异常2例，其他染色体异常1例；超声表现：颈项透明层（NT）增厚93例，胎儿水肿28例，颈部淋巴囊肿24例，头臀长（GRL）减小5例，心脏结构异常3例，脐膨出6例等。阴性组超声表现：NT增厚14例，CRL减小2例。Logistic回归分析发现，孕早期NT增厚与各类染色体异常相关。染色体阳性组与阴性组比较，胎儿水肿（χ2=46.28，P<0.05）、胎儿颈部淋巴囊肿（χ2=39.31，P<0.05）检出率差异有统计学意义。结论 孕早期超声标记对预测染色体异常具有重要指导意义，其中NT增厚、胎儿水肿及胎儿颈部淋巴囊肿为有效的预测指标。 |
| 英文摘要: |
| Objective To investigate the effective ultrasonic index in the first trimester to screen chromosomal abnormalities.Methods Totally 470 pregnant women in the first trimester were collected, all of them were underwent early ultrasound screening and invasive chromosome examination. The ultrasound images were readed to analyze the relevance and estimate the value between the ultrasound makers and fetal chromosomal abnormalities.Results In all of the 470 pregnant women, 184 cases were with abnormal chromosome (abnormal group) and 286 cases were normal (normal group). In abnormal group, 63 cases were Trisomy 21, 32 cases were Trisomy 18, 4 cases were Trisomy 13, 46 cases were chromosome deformity, 17 cases were Turner syndrome, 19 cases were other sex chromosome abnormalities, 2 cases were other autosomal aneuploidy abnormality, and 1 case were other chromosome abnormality. The number of nuchal translucency (NT) thickening were 93, fetal edema were 28, fetal cervical lymph cyst were 24, the crown-rump length (GRL) decrease were 5, abnormal cardiac structural were 3, acromphalus were 6. In normal group, the cases of NT thickening were 14, the GRL decrease were 2. Logistic regression analysis found that NT thickening was associated with various types of chromosomal abnormalities in the first trimester. The fetal edema (χ2=46.28, P<0.05) and fetal cervical lymph cyst (χ2=39.31, P<0.05) had statistical differences between the abnormal group and normal groups.Conclusion The ultrasound makers has important guiding significance to predict chromosomal abnormalities. The NT thickening, fetal edema and fetal cervical lymph cyst in the first trimester are the most effective predictors. |
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