■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。共纳入331例接受产前染色体微阵列分析的肾脏超声异常胎儿。根据肾脏异常的类型，将胎儿分为孤立和非孤立异常组。
■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。
UNASSIGNED: 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.
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.
PDF(Sci-hub)