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胎儿孤立性双肾盂收集系统是否需要进行染色体微阵列分析?

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

机构信息

Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

Rabin Medical Center, Recanati Genetics Institute, Beilinson Hospital, Petach Tikva, Israel.

出版信息

J Matern Fetal Neonatal Med. 2021 Mar;34(5):696-700. doi: 10.1080/14767058.2019.1613364. Epub 2019 May 15.

Abstract

Duplication of the renal collecting system is one of the most common variants of urinary tract anatomy. The objective of our study was to examine the risk for chromosomal aberrations in this isolated prenatal sonographic finding. Data from all chromosomal microarray analyses (CMA) reported to the Ministry of Health between January 2013 and September 2017 were retrospectively obtained from a computerized database. All pregnancies with a sonographic diagnosis of the isolated duplex renal collecting system and documentation of CMA result were included. Rate of abnormal CMA findings was compared to the general population risk, based on a systematic review encompassing 9272 cases with normal ultrasound and a local data of 5541 pregnancies undergoing CMA due to maternal request. Two pathogenic CMA finding was found amongst 143 pregnancies with double collecting system (1.4%), not significantly different from the risk for abnormal CMA results in the general population. In addition, five variants of unknown significance were demonstrated (3.5%). To our best knowledge, this analysis is the first report describing the rate of chromosomal anomalies in pregnancies with isolated duplex renal collecting system. Its results suggest that routine invasive prenatal testing with CMA analysis in such cases is no more useful than in the general population. Prospective well-adjusted studies are needed to guide the optimal management of these pregnancies.

摘要

肾盂重复畸形是最常见的尿路解剖变异之一。我们的研究目的是探讨孤立性产前超声表现为肾盂重复畸形的患者中发生染色体异常的风险。我们从计算机数据库中回顾性地获取了 2013 年 1 月至 2017 年 9 月期间向卫生部报告的所有染色体微阵列分析(CMA)的数据。所有超声诊断为孤立性双肾盂收集系统并记录 CMA 结果的妊娠均被纳入研究。异常 CMA 发现的发生率与一般人群风险进行了比较,该风险基于一项包含 9272 例正常超声的系统评价以及因母体要求行 CMA 的 5541 例妊娠的本地数据。在 143 例双肾盂收集系统的妊娠中发现了 2 种致病性 CMA 发现(1.4%),与一般人群中异常 CMA 结果的风险无显著差异。此外,还显示了 5 种意义未明的变异(3.5%)。据我们所知,这是首次报道描述孤立性双肾盂收集系统妊娠中染色体异常的发生率。其结果表明,在这种情况下,常规的 CMA 分析有创性产前检测与一般人群相比并没有更多的用处。需要前瞻性调整良好的研究来指导这些妊娠的最佳管理。

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