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中华医学超声杂志（电子版）

中华医学超声杂志（电子版） ›› 2015, Vol. 12 ›› Issue (11) : 840 -844. doi: 10.3877/cma.j.issn.1672-6448.2015.11.005

所属专题： 妇产科超声影像学； 产前超声； 文献； 妇产科超声；

综述

胎儿染色体微小异常的再认识
张葵1, 李胜利1,†()   
  1. 1. 518028　南方医科大学附属深圳市妇幼保健院超声科
  • 收稿日期:2015-09-08 出版日期:2015-11-01
  • 通信作者: 李胜利
  • 基金资助:
    国家自然资金科学基金(60671043); 国家科技支撑计划(2014BAI06B05)

Examination of subtle fetal chromosomal findings

Kui Zhang1, Shengli Li1()   

  • Received:2015-09-08 Published:2015-11-01
  • Corresponding author: Shengli Li
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引用本文：

张葵, 李胜利. 胎儿染色体微小异常的再认识[J]. 中华医学超声杂志（电子版）, 2015, 12(11): 840-844.

Kui Zhang, Shengli Li. Examination of subtle fetal chromosomal findings[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2015, 12(11): 840-844.

表1 综合多篇文献报道的早孕期胎儿NT测量研究结果
文献序号 例数 孕周（周） 截断值 假阳性率[例/例（%）] 21-三体检出率[例/例（%）]
[9] 1763 10~14 NT≥2.5 mm 3.6 3/4（75.0）
[10] 3380 9~12 NT≥3.0 mm 1.6 28/31（90.3）
[11] 1547 10~14 NT≥3.0 mm 2.2 6/9（66.7）
[12] 96 127 10~14 NT≥第95百分位 4.4 234/327（71.6）
[13] 2281 11~14 NT≥第99百分位 0.4 6/8（75.0）
[14] 4523 10~14 NT≥2.5 mm 2.7 8/12（66.7）
[15] 3550 10~14 NT≥第95百分位 2.3 10/11（90.9）
[16] 23 805 10~14 NT≥第95百分位 8 174/210（82.9）
[17] 2996 10~14 NT≥第95百分位 5.3 7/10（70.0）
[18] 4130 10~14 NT≥第95百分位 4.3 9/12（75.0）
[19] 6939 10~14 NT≥3.0 mm 0.8 4/6（66.7）
[20] 4371 10~14 NT≥2.5 mm 1.7 4/7（57.1）
[21] 12 311 10~14 NT≥第95百分位 5 52/64（81.2）
[22] 6750 10~12 NT≥2.5 mm 4.3 17/17（100）
合计 174 473 ? ? ? 562/728（77.2）
表2 综合多篇文献报道的早孕期胎儿鼻骨检测研究结果
文献序号 例数 孕周（周） 检查成功率[例/例(%)] 正常胎儿鼻骨缺失检出率[例/例(%)] 21-三体胎儿鼻骨缺失检出率[例/例(%)]
[7] 701 11~14 701/701（100） 3/603（0.5） 43/59（72.9）
[23] 183 11~14 183/194（94.3） 1/175（0.6） 3/5（60.0）
[24] 5525 11~14 5525/5532（99.8） 7/3463（0.2） 19/27（70.00）
[25] 1027 11~14 1027/1089（94.3） 10/1000（1.0） 10/15（66.7）
[26] 1752 11~14 1752/1906（91.9） 24/1733（1.4） 8/10（80.0）
[27] 956 11~14 956/1040（91.9） 4/944（0.4） 3/4（75.0）
[28] 119 11~14 119/143（83.2） 1/114（0.9） 2/3（66.7）
[29] 3788 11~14 3788/3829（98.9） 93/3358（2.8） 162/242（67.0）
[30] 5851 11~14 5851/5918（98.9） 129/5223（2.5） 229/333（68.8）
合计 19 902 11~14 19 902/20 352（97.8） 272/16 613（1.6） 479/698（68.6）
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