Lin Shaobin, Shi Shanshan, Huang Linhuan, Lei Ting, Cai Danlei, Hu Wenlong, Zhou Yi, Luo Yanmin
1Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhong Shan Er Road, Guangzhou, 510080 Guangdong China.
2Fetal Medicine Center, The First Affiliated Hospital of Jinan University, Guangzhou, China.
Mol Cytogenet. 2019 Jul 5;12:31. doi: 10.1186/s13039-019-0443-3. eCollection 2019.
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.
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.
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.
本研究旨在评估拷贝数变异（CNV）与胎儿肾脏超声异常之间的关联。共纳入331例接受产前染色体微阵列分析的有肾脏超声异常的胎儿。这些胎儿被分为孤立性和非孤立性异常组，或根据肾脏异常类型进行分类。
分别在3.4%或7.3%的有孤立性或非孤立性肾脏异常的胎儿中发现了具有临床意义的CNV。与肾实质畸形（4.7%）或泌尿系统收集系统异常（3.4%）的胎儿相比，肾脏胚胎迁移异常的胎儿中更频繁地发现CNV（6.6%）。特别是，异位肾胎儿中最常检测到CNV（9.5%），而马蹄肾或孤立性重复肾胎儿中未检测到。在这些CNV中，最常见的是del(17)(q12q12)（1.2%）和del(22)(q11q11)（0.6%）。本研究中鉴定出dup(17)(p12p12)和del(15)(q11.2q11.2) CNV，但在先前研究中未发现。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。
肾脏胚胎迁移异常（特别是异位肾）的胎儿中具有临床意义的CNV频率较高，而马蹄肾或重复肾胎儿与这些CNV的关联较少。
