早中孕期超声筛查胎儿Cantrell五联征的价值

Value of combination of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell

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中文摘要：目的探讨早、中孕期超声筛查在胎儿Cantrell五联征中的诊断价值及漏误诊分析。方法回顾性分析2018年3月至2022年11月在南京医科大学附属苏州医院超声中心诊断为Cantrell五联征胎儿的超声图像特征，总结在早、中孕期诊断该病的必须切面和超声图像关键特征，分析早、中孕期超声筛查对该病的诊断价值，了解该病在孕期的进展过程、计算该病的漏诊率及误诊率，并分析漏误诊原因。所有胎儿均随访至出生后或引产后。根据Toyama的研究将Cantrell五联征分为Ⅰ型、Ⅱ型及Ⅲ型。结果在120 190例胎儿中，早、中孕期超声诊断13例Cantrell五联征，超声主要表现为胎儿心脏异位于胸腔外(异位心)，腹腔内容物膨出至腹腔外，部分胎儿胸骨回声部分或完全缺损。13例胎儿均经随访证实，其中Ⅱ型1例、Ⅲ型12例。此外，经出生后随访漏诊1例Ⅱ型Cantrell五联征。早、中孕期超声标准切面诊断胎儿Cantrell五联征的正确诊断率分别为99.9%、100%，敏感性分别为88.9%、100%，特异性均为100%，阳性预测值均为100%，阴性预测值分别为99.9%、100%。结论早、中孕期超声筛查对于Cantrell五联征诊断准确率高，有助于其早发现、早诊断，对于妊娠结局的指导具有重要临床意义。 Objective To explore the diagnostic value of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell, and to analyze missed and misdiagnosed cases. Methods The fetal ultrasound image characteristics of pentalogy of Cantrell diagnosed in the Affiliated Suzhou Hospital of Nanjing Medical University from March 2018 to November 2022 were retrospectively analyzed. The necessary sections and key features of ultrasound images for diagnosing the disease in first-trimester and mid-trimester were summarized. The diagnostic value of ultrasound screenings in first-trimester and mid-trimester was analyzed, and the progression of the disease during pregnancy was understood, the missed diagnosis rate and misdiagnosis rate were calculated, and the reasons for missing diagnosis were analyzed. All fetuses were followed up to birth or induction of labor.Pentalogy of Cantrell was divided into types Ⅰ, Ⅱ, and Ⅲ according to Toyama′s research. Results Among the 120 190 fetuses, 13 cases of pentalogy of Cantrell were diagnosed by ultrasound in first-trimester and mid-trimester. Ultrasound predominantly showed the fetal heart being malpositioned outside the chest and the fetal abdominal contents bulging outside the abdominal cavity, and the sternumal echo was partially or completely missed in some cases. All 13 cases were confirmed by follow-up, including 1 case of type Ⅱ, and 12 cases of type Ⅲ. In addition, 1 missed case of type Ⅱ pentalogy of Cantrell was followed up after birth. The correct diagnostic rates of fetal pentalogy of Cantrell using standard ultrasound sections during the first-trimester and mid-trimester were 99.9% and 100%, the sensitivity were 88.9% and 100%, the specificity were both 100%, the positive predictive values were both 100%, and the negative predictive values were 99.9% and 100%, respectively. Conclusions First-trimester and mid-trimester ultrasound screenings have high diagnostic accuracy for pentalogy of Cantrell, and early detection and early diagnosis are of great clinical significance for the guidance of pregnancy outcomes.

外文摘要：Objective To explore the diagnostic value of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell, and to analyze missed and misdiagnosed cases. Methods The fetal ultrasound image characteristics of pentalogy of Cantrell diagnosed in the Affiliated Suzhou Hospital of Nanjing Medical University from March 2018 to November 2022 were retrospectively analyzed. The necessary sections and key features of ultrasound images for diagnosing the disease in first-trimester and mid-trimester were summarized. The diagnostic value of ultrasound screenings in first-trimester and mid-trimester was analyzed, and the progression of the disease during pregnancy was understood, the missed diagnosis rate and misdiagnosis rate were calculated, and the reasons for missing diagnosis were analyzed. All fetuses were followed up to birth or induction of labor.Pentalogy of Cantrell was divided into types Ⅰ, Ⅱ, and Ⅲ according to Toyama′s research. Results Among the 120 190 fetuses, 13 cases of pentalogy of Cantrell were diagnosed by ultrasound in first-trimester and mid-trimester. Ultrasound predominantly showed the fetal heart being malpositioned outside the chest and the fetal abdominal contents bulging outside the abdominal cavity, and the sternumal echo was partially or completely missed in some cases. All 13 cases were confirmed by follow-up, including 1 case of type Ⅱ, and 12 cases of type Ⅲ. In addition, 1 missed case of type Ⅱ pentalogy of Cantrell was followed up after birth. The correct diagnostic rates of fetal pentalogy of Cantrell using standard ultrasound sections during the first-trimester and mid-trimester were 99.9% and 100%, the sensitivity were 88.9% and 100%, the specificity were both 100%, the positive predictive values were both 100%, and the negative predictive values were 99.9% and 100%, respectively. Conclusions First-trimester and mid-trimester ultrasound screenings have high diagnostic accuracy for pentalogy of Cantrell, and early detection and early diagnosis are of great clinical significance for the guidance of pregnancy outcomes.

外文关键词：

Ultrasonography, prenatalFirst-trimesterMid-trimesterPentalogy of CantrellFetus

作者：

孙乃敏、郑晨晗、季春亚、张俊、潘琦、孙玲玲、杨忠、凌晨、殷林亮、邓学东

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作者单位：

南京医科大学附属苏州医院　苏州市立医院超声中心，苏州　215002

南京医科大学姑苏学院超声中心，苏州　215002

关键词：

超声检查,产前早孕期中孕期 Cantrell五联征胎儿

基金：

苏州市姑苏卫生人才培养项目苏州市姑苏卫生人才培养项目江苏省妇幼健康科研项目苏州市"科教兴卫"青年科技项目苏州市临床重点病种诊疗技术专项南京医科大学姑苏学院专病队列项目

项目编号：

GSWS2019006GSWS2020055F202044KJXW2021032LCZX202208GSKY20220408

出版年：

2024

DOI：

10.3760/cma.j.cn131148-20230915-00118

中华超声影像学杂志

中华医学会

中华超声影像学杂志

CSTPCD北大核心

影响因子：0.986

ISSN：1004-4477

年,卷(期)：2024.33(2)

参考文献量25