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中华医学超声杂志(电子版) ›› 2022, Vol. 19 ›› Issue (09) : 894 -898. doi: 10.3877/cma.j.issn.1672-6448.2022.09.005

妇产科超声影像学

早孕期超声筛查胎儿巨膀胱的临床价值分析
张红彬1, 栗河舟1,(), 刘灵2   
  1. 1. 450000 郑州大学第三附属医院超声科
    2. 450000 郑州大学第三附属医院产前诊断中心
  • 收稿日期:2022-05-07 出版日期:2022-09-01
  • 通信作者: 栗河舟
  • 基金资助:
    河南省医学适宜技术推广项目(SYJS2020081)

Clinical value of ultrasound screening of fetal megacystis during early pregnancy

Hongbin Zhang1, Hezhou Li1,(), Ling Liu2   

  1. 1. Department of Diagnostic Ultrasound, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China
    2. Department of Prenatal Diagnostic, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China
  • Received:2022-05-07 Published:2022-09-01
  • Corresponding author: Hezhou Li
引用本文:

张红彬, 栗河舟, 刘灵. 早孕期超声筛查胎儿巨膀胱的临床价值分析[J/OL]. 中华医学超声杂志(电子版), 2022, 19(09): 894-898.

Hongbin Zhang, Hezhou Li, Ling Liu. Clinical value of ultrasound screening of fetal megacystis during early pregnancy[J/OL]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2022, 19(09): 894-898.

目的

探讨规范化早孕期超声筛查胎儿巨膀胱的临床特征,为其临床管理提供依据。

方法

回顾性分析2018年1月至2022年1月间于郑州大学第三附属医院产前超声诊断中心行规范化早孕期产前筛查的妊娠11~13+6周孕妇43 862例的产前资料,对检出的巨膀胱胎儿,记录膀胱大小、彩色多普勒显示脐动脉,追踪妊娠过程及临床结局,通过产后复查、病理检查和介入性产前诊断等方法进一步明确病因。

结果

超声筛查检出胎儿发育异常952例,其中巨膀胱胎儿64例。巨膀胱胎儿合并颈后透明层增厚者10例,合并染色体异常者10例,合并脐带囊肿者11例,合并单脐动脉者21例,合并肾回声增强者9例,早孕期显示“钥匙孔”征(+)者11例,早孕期合并心脏异常者6例,合并颜面异常者2例,合并腹壁肌层异常者7例,合并肢体骨骼异常者8例;64例巨膀胱胎儿中43例进行选择性终止妊娠,15例在随访过程中停止发育,2例出生未见异常,4例男性胎儿出生后行下尿路梗阻部手术,且尸检证实有5例为梅干腹综合征。

结论

早孕期超声筛查可有效地检出和诊断胎儿巨膀胱,并可对其可能存在的病因及临床结局提供适宜的建议,有助于尽早产科处理与临床管理。

Objective

To investigate the clinical characteristics of fetal megacystis screened by standardized ultrasound in early pregnancy, and to provide a basis for its clinical management.

Methods

From January 2018 to January 2022, 43 862 pregnant women were screened by standardized ultrasound in the early pregnancy (11-13+6 weeks of pregnancy) at the Prenatal Ultrasound Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University. The prenatal data were retrospectively analyzed, and the detected megacystis fetuses and the size of the bladder were recorded, as well as the umbilical artery shown by color Doppler. The pregnancy processes and clinical outcomes were followed, and the etiology was further clarified through postpartum review, pathological examination, and interventional prenatal diagnosis.

Results

A total of 952 cases of fetal dysplasia were detected by ultrasound screening, including 64 cases of megacystis. There were 10 cases with thickening of posterior translucency, 10 with chromosomal abnormalities, 11 with umbilical cyst, 21 with single umbilical artery, 9 with renal echo enhancement, 11 with 'keyhole' sign in early pregnancy, 3 with cardiac abnormalities in early pregnancy, 2 with facial abnormalities, 7 with abnormal abdominal muscle layer, and 8 with limb bone abnormalities. Among 64 cases of megacystis, 43 underwent selective termination of pregnancy, 15 stopped development during follow-up, 2 were born without abnormalities, 4 male fetuses underwent surgery for lower urinary tract obstruction after birth, and autopsy confirmed that there were 5 cases of dried plum abdomen syndrome.

Conclusion

Ultrasound screening in early pregnancy can effectively detect and diagnose fetal megacystis, provide appropriate clinical consultation for its possible causes and clinical outcomes, and help with early obstetric and clinical management.

图1 胎儿基因芯片染色体微阵列检测结果。图a:arr[GRCh37]4q13.2(69,661,414-70,483,042)x1,为临床意义不明确的基因组拷贝数变异(CNV);图b:arr[GRCh37]17q12(34,822,466-36,283,807)×1,为临床意义致病性CNV;常染色体显性遗传,相关临床表现为肾结构和功能异常(多见);图c:arr(1-22)×2,(XN)×1,为临床意义致病性CNV3
表1 64例巨膀胱胎儿临床资料及产前超声检测结果
图2 孕早期后尿道瓣膜胎儿声像图特征。图a二维超声检查显示孕早期胎儿膀胱增大(箭头所示);图b彩色多普勒超声显示胎儿巨膀胱两侧脐动脉(箭头所示);图c妊娠12+3周后尿道瓣膜胎儿膀胱增大,尿道扩张,呈“钥匙孔”征(+)(箭头所示)注:BL为膀胱
表2 孕早期产前超声诊断64例巨膀胱胎儿合并畸形情况
图3 孕早期梅干腹综合征胎儿特征性表现。图a超声声像图示下腹部囊性包块并明显外凸,前方腹壁极薄,周围器官受压显示不清(箭头所示)。图b三维重建模式显示孕早期梅干腹综合征胎儿腹部前方巨大包块(箭头所示)。图c为引产后,梅干腹综合征胎儿大体病理标本(箭头所示)注:BL为膀胱
表3 早孕期产前超声诊断64例巨膀胱胎儿病因分类及妊娠结局
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