Background This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal microarray analyses were enrolled. The fetuses were classified into groups with isolated and nonisolated anomalies or according to the types of kidney anomalies. Results Clinically significant CNVs were identified in 3.4% or 7.3% of fetuses with isolated or nonisolated kidney anomalies, respectively. CNVs were more frequently identified in fetuses with abnormal embryonic migration of the kidneys (6.6%) than in fetuses with malformations of the renal parenchyma (4.7%) or anomalies of the urinary collecting system (3.4%). In particular, CNVs were most frequently detected in fetuses with ectopic kidneys (9.5%) but not in fetuses with horseshoe kidneys or isolated duplex kidneys. Among these CNVs, the most common were del(17)(q12q12) (1.2%) and del(22)(q11q11) (0.6%). The dup(17)(p12p12) and del(15)(q11.2q11.2) CNVs were identified in this study but not in previous studies. The del(X)(p11.4p11.4) and del(16)(p13.3p13.3) CNVs were further implicated as associated with kidney anomalies. Conclusions Fetuses with abnormal embryonic migration of the kidneys (particularly ectopic kidneys) showed a higher frequency of clinically significant CNVs, whereas fetuses with horseshoe kidneys or duplex kidneys were less frequently associated with these CNVs.

中文翻译：

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是否需要分析胎儿各种类型的肾脏超声异常的拷贝数变异？

背景 本研究旨在评估拷贝数变异 (CNV) 与胎儿肾脏超声异常的关联。共有 331 名接受产前染色体微阵列分析的肾脏超声异常胎儿入组。将胎儿分为孤立性和非孤立性异常组或根据肾脏异常的类型。结果 3.4% 或 7.3% 的孤立性或非孤立性肾脏异常胎儿分别发现了具有临床意义的 CNV。与肾实质畸形（4.7%）或泌尿集合系统异常（3.4%）的胎儿相比，CNVs在肾脏胚胎迁移异常的胎儿（6.6%）中更常见。特别是，CNV 最常在异位肾胎儿中检测到 (9. 5%），但不适用于马蹄肾或孤立双肾的胎儿。在这些 CNV 中，最常见的是 del(17)(q12q12) (1.2%) 和 del(22)(q11q11) (0.6%)。在本研究中发现了 dup(17)(p12p12) 和 del(15)(q11.2q11.2) CNV，但在之前的研究中没有发现。del(X)(p11.4p11.4) 和 del(16)(p13.3p13.3) CNV 进一步被认为与肾脏异常有关。结论 具有肾脏异常胚胎迁移（特别是异位肾脏）的胎儿显示出较高的临床显着 CNV 频率，而具有马蹄肾或双肾的胎儿与这些 CNV 的相关性较低。2) 在本研究中发现了 CNV，但在之前的研究中没有发现。del(X)(p11.4p11.4) 和 del(16)(p13.3p13.3) CNV 进一步被认为与肾脏异常有关。结论 具有肾脏异常胚胎迁移（特别是异位肾脏）的胎儿显示出较高的临床显着 CNV 频率，而具有马蹄肾或双肾的胎儿与这些 CNV 的相关性较低。2) 在本研究中发现了 CNV，但在之前的研究中没有发现。del(X)(p11.4p11.4) 和 del(16)(p13.3p13.3) CNV 进一步被认为与肾脏异常有关。结论 具有肾脏异常胚胎迁移（特别是异位肾脏）的胎儿显示出较高的临床显着 CNV 频率，而具有马蹄肾或双肾的胎儿与这些 CNV 的相关性较低。