title: Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling.
abstract: OBJECTIVE
  To assess the clinical implication of chromosomal microarray analysis (CMA) in prenatal diagnosis of MCDK.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Xi
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Xiangyu
authors.initials: X
authors.lastname: Zhu
authors.affiliation: Department of Medical Genetics, Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Tong
authors.initials: T
authors.lastname: Ru
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Chenyan
authors.initials: C
authors.lastname: Dai
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Zhiqun
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Centre of Prenatal Diagnosis of Jiangsu Province, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
authors.forename: Yali
authors.initials: Y
authors.lastname: Hu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000653:Amniotic Fluid; D016022:Case-Control Studies; D058674:Chromosome Duplication / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046228:Microarray Analysis; D021782:Multicystic Dysplastic Kidney / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal