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先天性肾脏和尿路异常的产前诊断及产后结局:来自三级医疗中心的结果

Prenatal diagnosis and postnatal outcomes of congenital kidney and urinary tract anomalies: results from a tertiary center.

作者信息

Çaltek Hale Özer, Çaltek Neçirvan Çağdaş, Aras Deniz, Çolak Tuğba Nur Çim, Okşen Ecem, Yavuz Sevgi, Çetinkaya Merih, Polat İbrahim

机构信息

Department of Perinatology, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.

Department of Gynecologic Oncology, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.

出版信息

BMC Pregnancy Childbirth. 2025 May 22;25(1):598. doi: 10.1186/s12884-025-07723-9.

Abstract

BACKGROUND

This study aimed to investigate the prenatal features, genetic findings, and perinatal outcomes of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT), with a particular focus on associations with additional structural or chromosomal abnormalities.

METHODS

A retrospective cohort analysis was conducted on 277 fetuses diagnosed with CAKUT between December 2020 and December 2024 at a tertiary center. Data on anomaly subtypes, associated findings, genetic testing, pregnancy outcomes, and postnatal follow-up were evaluated. Logistic regression was used to identify predictors of termination.

RESULTS

Urinary tract dilatation was the most frequent anomaly (28.2%), followed by multicystic dysplastic kidney (11.6%) and bilateral renal agenesis (11.2%). Extrarenal anomalies were present in 33.9% of fetuses, primarily involving the CNS. Genetic testing was performed in 48.4%; chromosomal abnormalities were found in 17.3%, most commonly trisomy 21 (5.8%). Termination was significantly associated with early diagnosis (adjusted OR = 0.82; p < 0.001), oligohydramnios (OR = 4.94; p < 0.001), CNS (OR = 3.74; p = 0.001), and cardiac anomalies (OR = 4.21; p = 0.002). Neonatal death occurred in 29.2% of cases, and mortality was higher in non-isolated anomalies (60% vs. 32.9%, p < 0.001).

CONCLUSIONS

Fetuses with CAKUT, particularly those with early diagnosis or coexisting anomalies, carry a higher risk of adverse outcomes. Prenatal detection, coupled with comprehensive genetic and structural evaluation, is essential for informed counseling and postnatal planning.

摘要

背景

本研究旨在调查先天性肾和尿路异常(CAKUT)胎儿的产前特征、基因检测结果及围产期结局,特别关注与其他结构或染色体异常的关联。

方法

对2020年12月至2024年12月在一家三级医疗中心诊断为CAKUT的277例胎儿进行回顾性队列分析。评估异常亚型、相关发现、基因检测、妊娠结局及产后随访数据。采用逻辑回归确定终止妊娠的预测因素。

结果

尿路扩张是最常见的异常(28.2%),其次是多囊性发育不良肾(11.6%)和双侧肾缺如(11.2%)。33.9%的胎儿存在肾外异常,主要累及中枢神经系统。48.4%的胎儿进行了基因检测;发现染色体异常的占17.3%,最常见的是21三体(5.8%)。终止妊娠与早期诊断(校正比值比=0.82;p<0.001)、羊水过少(比值比=4.94;p<0.001)、中枢神经系统异常(比值比=3.74;p=0.001)及心脏异常(比值比=4.21;p=0.002)显著相关。29.2%的病例发生新生儿死亡,非孤立性异常的死亡率更高(60%对32.9%,p<0.001)。

结论

患有CAKUT的胎儿,尤其是那些早期诊断或合并其他异常的胎儿,不良结局风险更高。产前检测以及全面的基因和结构评估对于提供充分的咨询和产后规划至关重要。

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