Xi Qi, Zhu Xiangyu, Wang Yaping, Ru Tong, Dai Chenyan, Wang Zhiqun, Li Jie, Hu Yali
Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Department of Medical Genetics, Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Prenat Diagn. 2016 May;36(5):463-8. doi: 10.1002/pd.4807. Epub 2016 Apr 2.
To assess the clinical implication of chromosomal microarray analysis (CMA) in prenatal diagnosis of MCDK.
Thirty-seven cases with MCDKs detected by prenatal ultrasound were enrolled in the study; 33 cases were isolated MCDKs and four cases were non-isolated MCDKs. CMA was performed on the Affymetrix CytoScan HD platform. The frequencies of the detected CNVs were compared with 461 cases that underwent CMA for anomalies unrelated to congenital anomalies of kidney and urinary tract (CAKUT) or 124 healthy newborns as controls. All of the annotated CNVs were validated by MLPA or qPCR.
Pathogenic CNVs were detected in 13.5% (5/37) of MCDKs. Two 17q12 deletions, one untypical 22q11.2 deletion, and one 22q11.2 duplication were detected in four isolated MCDK cases. Duplication of 1q31.3q44 was identified in a non-isolated MCDK case. Three of the five pathogenic CNVs were inherited. We also validated eight CNVs of uncertain significance only detected in MCDKs and five CNVs with higher frequency in MCDKs.
A substantial proportion of MCDKs were associated with pathogenic CNVs. Family members with the same CNV were asymptomatic or of different kind of renal malformations. It may be reasonable to perform CMA when MCDKs are identified prenatally. © 2016 John Wiley & Sons, Ltd.
评估染色体微阵列分析（CMA）在产前诊断多囊性发育不良肾（MCDK）中的临床意义。
本研究纳入了37例产前超声检测出MCDK的病例；其中33例为孤立性MCDK，4例为非孤立性MCDK。在Affymetrix CytoScan HD平台上进行CMA。将检测到的拷贝数变异（CNV）频率与461例因与先天性肾脏和尿路畸形（CAKUT）无关的异常接受CMA的病例或124例健康新生儿作为对照进行比较。所有注释的CNV均通过多重连接依赖探针扩增（MLPA）或定量聚合酶链反应（qPCR）进行验证。
在13.5%（5/37）的MCDK病例中检测到致病性CNV。在4例孤立性MCDK病例中检测到2个17q12缺失、1个非典型22q11.2缺失和1个22q11.2重复。在1例非孤立性MCDK病例中鉴定出1q31.3q44重复。5个致病性CNV中有3个是遗传的。我们还验证了仅在MCDK中检测到的8个意义不明确的CNV和在MCDK中频率较高的5个CNV。
相当一部分MCDK与致病性CNV相关。具有相同CNV的家庭成员无症状或有不同类型的肾脏畸形。产前诊断出MCDK时进行CMA可能是合理的。© 2016约翰威立父子有限公司
