[超声标志物在筛查胎儿21三体中的研究]

[Investigation of ultrasound markers in screening fetal trisomy 21].

作者信息

Shi Xiao-mei, Fang Qun, Chen Bao-jiang, Xie Hong-ning, Xie Ying-jun, Chen Jun-hong, Wu Jian-zhu

机构信息

Fetal Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2013 Feb;48(2):81-5.

PMID:23544486

Abstract

OBJECTIVE

To investigate the clinical value of ultrasound markers in screening fetal trisomy 21.

METHODS

From Jan. 2001 to Dec. 2011, a retrospective study about sonographic information of 138 fetuses diagnosed as trisomy 21 was taken in the First Affiliated Hospital of Sun Yat-sen University. All fetuses were divided into 3 groups: isolated ultrasound markers, non-isolated ultrasound markers, and isolated structural malformations or other abnormalities. The relationship between trisomy 21 and ultrasound markers as well as structural anomalies or other abnormalities was analyzed.

RESULTS

Sonographic anomalies were detected in 132 fetuses (95.7%, 132/138), including ultrasound markers and structural malformations or other abnormalities. One hundred and twenty cases (87.0%, 120/138) had ultrasound markers, 38 (31.7%, 38/120) had one marker and 82 (68.3%, 82/120) had more than one marker (P < 0.01). Fifty-one fetuses (37.0%, 51/138) had isolated ultrasound markers and non-isolated markers were found in 69 fetuses (50.0%, 69/138). Only 12 fetuses (8.7%, 12/138) had isolated structural malformations or other abnormalities. In 20 fetuses on whom the first-trimester ultrasound screening were performed, all had ultrasound markers, 95% (19/20) had thickened nuchal translucency and 55% (11/20) had nasal bone hypoplasia. The most common ultrasound markers on the second-trimester screening were nasal bone hypoplasia, which accounted for 41.9% (52/124) cases, followed by thickened nuchal fold (25.0%, 31/124), short femurs and humerus (24.2%, 30/124), echogenic intracardiac focus (16.1%, 20/124), mild ventriculomegaly (15.3%, 19/124), hyperechoic bowel (12.9%, 16/124), mild renal pyelectasis (12.1%, 15/124). Furthermore, the common structural malformations or other abnormalities were as follows: cardiac defects (33.1%, 41/124), digestive system (26.6%, 33/124).

CONCLUSIONS

Ultrasound markers are valuable for screening fetal trisomy 21. The fetuses of trisomy 21 usually had more than one ultrasound markers or associated with other abnormalities. Combinations of ultrasound markers with the results of serum screening and maternal age are necessary for evaluation.

摘要

目的

探讨超声软指标在筛查胎儿21-三体综合征中的临床价值。

方法

回顾性分析2001年1月至2011年12月在中山大学附属第一医院诊断为21-三体综合征的138例胎儿的超声检查资料。将所有胎儿分为3组：单纯超声软指标组、非单纯超声软指标组、单纯结构畸形或其他异常组。分析21-三体综合征与超声软指标以及结构畸形或其他异常之间的关系。

结果

138例胎儿中，132例（95.7%，132/138）检出超声异常，包括超声软指标和结构畸形或其他异常。120例（87.0%，120/138）有超声软指标，其中38例（31.7%，38/120）有1项软指标，82例（68.3%，82/120）有多项软指标（P<0.01）。51例（37.0%，51/138）为单纯超声软指标，69例（50.0%，69/138）为非单纯软指标。仅12例（8.7%，12/138）有单纯结构畸形或其他异常。在20例进行孕早期超声筛查的胎儿中，均有超声软指标，95%（19/20）有颈项透明层增厚，55%（11/20）有鼻骨发育不良。孕中期筛查最常见的超声软指标为鼻骨发育不良，占41.9%（52/124），其次为颈项皱褶增厚（25.0%，31/124）、股骨和肱骨短（24.2%，30/124）、心内强回声光斑（16.1%，20/124）、轻度脑室增宽（15.3%，19/124）、肠管强回声（12.9%，16/124）、轻度肾盂分离（12.1%，15/124）。此外，常见的结构畸形或其他异常如下：心脏缺陷（33.1%，41/124）、消化系统（26.6%，33/124）。