UNASSIGNED: 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.
UNASSIGNED: 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.
■在3.4%或7.3%有孤立性或非孤立性肾脏异常的胎儿中发现有临床意义的CNV,分别。与肾实质畸形(4.7%)或泌尿系统异常(3.4%)的胎儿相比,在肾脏胚胎迁移异常的胎儿(6.6%)中发现CNV的频率更高。特别是,CNV在异位肾脏的胎儿中最常见(9.5%),但在马蹄形肾脏或孤立的双重肾脏的胎儿中未检测到。在这些CNVs中,最常见的是del(17)(q12q12)(1.2%)和del(22)(q11q11)(0.6%)。在本研究中鉴定了dup(17)(p12p12)和del(15)(q11.2q11.2)CNVs,但在以前的研究中未鉴定。del(X)(p11.4p11.4)和del(16)(p13.3p13.3)CNVs进一步与肾脏异常相关。
■肾脏(特别是异位肾脏)胚胎迁移异常的胎儿显示出更高的临床上有意义的CNVs,而具有马蹄形肾或双肾的胎儿与这些CNV的相关性较低。