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孕期超声检测胎儿尿道下裂的性能:一项汇总分析。

Performance of ultrasound in detecting fetal hypospadias during pregnancy: a pooled analysis.

作者信息

Zhang Qiang, Chen Hongsong, Wang Chong, Liu Zhenmin, Wei Guanghui, Zhang Zhicheng, Liu Xing

机构信息

Department of Urology Children's Hospital of Chongqing Medical University, National Clinical Research Centre for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, 400014, China.

Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Chongqing, 400014, China.

出版信息

EClinicalMedicine. 2025 Feb 1;81:103091. doi: 10.1016/j.eclinm.2025.103091. eCollection 2025 Mar.

Abstract

BACKGROUND

Opinions regarding the role and value of ultrasound in the diagnosis of prenatal hypospadias are diverse. Although hypospadias is not a fatal malformation, a higher degree of severity exerts a significant impact on children's physiology and psychology. On the other hand, hypospadias may be accompanied by accompanying anomalies, syndromic conditions, and fetal growth restriction (FGR). This study aimed to systematically assess the value of ultrasound in the prenatal diagnosis of hypospadias.

METHODS

In the systematic review and meta-analysis, we searched PubMed, Web of Science, Scopus, Embase, and China National Knowledge Infrastructure (CNKI) databases until June 30, 2024. The key terms included: hypospadias, ultrasound, and prenatal diagnosis. Studies were assessed following the eligibility criteria, and the data from the included studies were extracted through a standardized protocol. The primary outcomes focused on the positive predictive value (PPV), accuracy, sensitivity, and specificity of ultrasound for detecting fetal hypospadias. The Quality Assessment of Diagnostic Accuracy Studies-2 (QUADAS-2) scale was used to assess the risk of bias. The PPV was calculated using the bootstrap method. When five or fewer studies were pooled, a random-effect model based on the Hartung-Knapp-Sidik-Jonkman (HKSJ) method was used as a meta-analysis strategy to evaluate the overall effect. Sensitivity and specificity were pooled using a Summary Receiver Operating Characteristic (SROC) curve. The protocol was registered with PROSPERO (CRD42024586840).

FINDINGS

A total of nine studies with 600 cases were included in the systematic review. The pooled median gestational age of the included studies was 27.64 ± 3.15 weeks. The overall PPVs of two-dimensional ultrasound (2DUS) in diagnosing fetal hypospadias and external genital malformations were 81% (95% confidence interval (CI): 77%-85%) and 88% (95% CI: 86%-91%), respectively. Upon in-depth analysis of the five studies, the accuracy of 2DUS combined with three-dimensional ultrasound (3DUS) was 84% (95% CI: 78%-89%), and that of 2DUS alone was 74% (95% CI: 69%-78%). The difference between the two methods was 10%. The pooled sensitivity of 2DUS combined with 3DUS in diagnosing fetal hypospadias was 86% (95% CI: 79%-93%), the specificity was 77% (95% CI: 69%-86%), and the area under the curve (AUC) was 0.86 (95% CI: 0.83-0.89).

INTERPRETATION

This is the first diagnostic meta-analysis to comprehensively evaluate the detection of fetal hypospadias using ultrasound during pregnancy, indicating that ultrasound is indeed of significant value in the prenatal diagnosis of hypospadias. More research is needed to validate and enhance current research findings and offer more comprehensive guidance for future clinical practice.

FUNDING

This work was supported by the Natural Science Foundation Project of Chongqing, Chongqing Science and Technology Commission (CSTB2022NSCQ-MSX1001) and the Program for Youth Innovation in Future Medicine, Chongqing Medical University (W0109).

摘要

背景

关于超声在产前尿道下裂诊断中的作用和价值,观点不一。虽然尿道下裂并非致命畸形,但严重程度较高会对儿童的生理和心理产生重大影响。另一方面,尿道下裂可能伴有其他异常、综合征情况以及胎儿生长受限(FGR)。本研究旨在系统评估超声在产前诊断尿道下裂中的价值。

方法

在系统评价和荟萃分析中,我们检索了截至2024年6月30日的PubMed、Web of Science、Scopus、Embase和中国国家知识基础设施(CNKI)数据库。关键词包括:尿道下裂、超声和产前诊断。根据纳入标准对研究进行评估,并通过标准化方案提取纳入研究的数据。主要结局集中在超声检测胎儿尿道下裂的阳性预测值(PPV)、准确性、敏感性和特异性。使用诊断准确性研究质量评估-2(QUADAS-2)量表评估偏倚风险。采用自抽样法计算PPV。当汇总的研究数量为五项或更少时,采用基于Hartung-Knapp-Sidik-Jonkman(HKSJ)方法的随机效应模型作为荟萃分析策略来评估总体效应。使用汇总接受者操作特征(SROC)曲线汇总敏感性和特异性。该方案已在国际前瞻性系统评价注册库(PROSPERO)注册(CRD42024586840)。

结果

系统评价共纳入9项研究,600例病例。纳入研究的汇总中位孕周为27.64±3.15周。二维超声(2DUS)诊断胎儿尿道下裂和外生殖器畸形的总体PPV分别为81%(95%置信区间(CI):77%-85%)和88%(95%CI:86%-91%)。对五项研究进行深入分析后,2DUS联合三维超声(3DUS)的准确性为84%(95%CI:78%-89%),单独2DUS的准确性为74%(95%CI:69%-78%)。两种方法的差异为10%。2DUS联合3DUS诊断胎儿尿道下裂的汇总敏感性为86%(95%CI:79%-93%),特异性为77%(95%CI:69%-86%),曲线下面积(AUC)为0.86(95%CI:0.83-0.89)。

解读

这是第一项全面评估孕期超声检测胎儿尿道下裂的诊断性荟萃分析,表明超声在产前诊断尿道下裂中确实具有重要价值。需要更多研究来验证和加强当前的研究结果,并为未来的临床实践提供更全面的指导。

资助

本研究得到重庆市自然科学基金项目(CSTB2022NSCQ-MSX1001)和重庆医科大学未来医学青年创新项目(W0109)的支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d58e/11840197/2596d29a9de6/gr1.jpg

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