中孕期胎儿鼻前皮肤厚度及鼻骨长度筛查胎儿染色体病的临床价值

doi:10.3877/cma.j.issn.1672-6448.2023.05.007

中华医学超声杂志（电子版） ›› 2023, Vol. 20 ›› Issue (05) : 506 -510. doi: 10.3877/cma.j.issn.1672-6448.2023.05.007

所属专题：妇产科超声影像学；

妇产科超声影像学

中孕期胎儿鼻前皮肤厚度及鼻骨长度筛查胎儿染色体病的临床价值

刘镭, 杨昕, 许晓华, 林胜谋, 熊初琴, 农丽录, 董振宇, 李胜利^†(

)

518058　香港大学深圳医院超声科
510186　广州市妇女儿童医疗中心产前诊断科
518028　深圳市妇幼保健院超声科

收稿日期:2021-04-23 出版日期:2023-05-01
通信作者: 李胜利

Measurement of fetal prenasal thickness and nasal bone length as a screening tool for trisomy 21, 18, and 13 in the second trimester of pregancy

Lei Liu, Xin Yang, Xiaohua Xu, Shengmou Lin, Chuqin Xiong, Lilu Nong, Zhenyu Dong, Shengli Li^†()

Department of Ultrasound, the University of HongKong Shenzhen Hospital, Shenzhen 518058, China
Department of Antenatal Diagnostics, Guangzhou Women and Children's Medical Center, Guangzhou 510186, China
Department of Ultrasound, Shenzhen Women and Children Health Hospital, Shenzhen 518028, China

Received:2021-04-23 Published:2023-05-01
Corresponding author: Shengli Li

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目的

分析孕中孕期胎儿鼻骨长度（NBL）、鼻前皮肤厚度（PT）和PT/NBL值筛查胎儿常见染色体病的临床价值。

方法

2018年7月至2019年7月，对香港大学深圳医院中孕期（14~28周）接受结构筛查及生长发育评估的胎儿进行PT及NBL的测量，采用线性回归方程建立胎儿NBL及PT的正常值曲线。回顾性分析并测量经产前诊断证实的21、18及13三体的胎儿NBL及PT值，评估NBL、PT和PT/NBL在产前筛查染色体病中的临床价值。

结果

本研究共纳入253例正常胎儿及55例染色体病胎儿（包括21三体38例，18三体11例，13三体6例）。胎儿测量的中位孕周为23周。研究结果提示，胎儿PT及NBL均随孕周增大而增长，其正常值曲线方程如下：NBL（mm）=-5.656+0.761GA-0.01GA²（R²=0.891，P＜0.001）；PT（mm）=-4.959+0.565GA-0.01GA²（R²=0.725，P＜0.001），统计分析发现，PT/NBL值不随孕周的增加而增加（R²=0.004，P=0.376），中位值为0.72（0.60~0.76）。21、18、13三体综合征胎儿中，鼻骨缺失或鼻骨发育不良的发生率分别为42.1%（16/38）、36.4%（4/11）、33.3%（2/6）；鼻前皮肤增厚的发生率分别为26.3%（10/38）、36.4%（4/11）、16.7%（1/6）；PT/NBL增高的发生率分别为65.8%（25/38）、45.5%（5/11）、16.6%（1/6）。

结论

PT/NBL可作为中孕期胎儿染色体病的可靠超声筛查指标。

关键词: 超声检查, 胎儿, 鼻骨长度, 鼻前皮肤厚度, 染色体病

Objective

To establish the reference ranges of fetal prenasal thickness (PT) and nasal bone length (NBL) based on a Chinese population and to assess their predictive value for trisomy 21, 18, and 13 in the second trimester of pregnancy.

Methods

Pregnant women who underwent ultrasound during the second trimester were included in this study. The PT and NBL were measured retrospectively in 253 normal fetuses and in 55 fetuses with trisomy 21, 18, and 13.

Results

The mean PT [PT=-4.959+0.565GA-0.01GA² (R²=0.725, P＜0.001)] and NBL [NBL (mm)=-5.656+0.761GA-0.01GA² (R²=0.891, P＜0.001)] both increased with the gestational age, while the PT/NBL ratio (R²=0.004, P=0.376) remained stable. For the fetuses with trisomy 21, 18, and 13, 26.3% (10/38), 36.4% (4/11), and 16.7% (1/6) had a PT below the 5^th percentile, and 42.1% (16/38), 36.4% (4/11), and 33.3% (2/6) had a NBL below the 5^th percentile. The detection rate increased remarkably when PT/NBL ratio were used as a new marker for trisomy 21 fetuses, but not for trisomy 18 and 13 fetuses [65.8% (25/38), 45.5% (5/11), and 16.6% (1/6), respectively].

Conclusion

Fetal PT/NBL ratio could be used as an effective predictive maker for trisomy 21, 18, and 13.

Key words: Ultrasound, Fetal, Prenasal thickness, Nasal bone length, Prenatal diagnosis

图1 胎儿鼻前皮肤厚度及鼻骨长度测量标准。图a：正常胎儿鼻骨及鼻前皮肤（Line 1：鼻骨，Line 2，鼻前皮肤）；图b：鼻骨缺失及鼻前皮肤（白色线）增厚

图2 胎儿鼻骨长度与鼻前皮肤厚度测量的观察者间差异（图a，图b）及观察者内部差异（图c，图d）

图3 14~28周胎儿鼻骨长度（NBL）正常值曲线，NBL（mm）=-5.656+0.761GA-0.01GA²（R²=0.891，P＜0.001）

图4 14~28周胎儿鼻前皮肤厚度（PT）正常值曲线，PT=-4.959+0.565GA-0.01GA²（R²=0.725，P＜0.001）

图5 14~28周胎儿鼻前皮肤厚度（PT）/鼻骨长度（NBL）正常值曲线，PT/NBL随着孕周增加保持恒定（R²=0.004，P=0.376）

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