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Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling

Qi Xi1, Xiangyu Zhu1, Yaping Wang2

  • 1Department of Obstetrics and Gynecology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.

Prenatal Diagnosis
|March 5, 2016
PubMed
Abstract

Insights

Chromosomal microarray analysis (CMA) detects pathogenic copy number variations (CNVs) in 13.5% of prenatal diagnoses of multicystic kidney disease (MCDK). This genetic testing is recommended for MCDK cases identified during pregnancy.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Urology

Background:

  • Multicystic kidney disease (MCDK) is a common congenital anomaly of the kidney and urinary tract (CAKUT).
  • The genetic underpinnings of isolated MCDK are not fully understood, necessitating advanced diagnostic tools.
  • Prenatal ultrasound is the primary method for detecting MCDK during pregnancy.

Purpose of the Study:

  • To evaluate the clinical significance of chromosomal microarray analysis (CMA) in prenatal diagnosis of MCDK.
  • To identify copy number variations (CNVs) associated with isolated and non-isolated MCDK.
  • To determine the utility of CMA in genetic counseling for families with prenatally diagnosed MCDK.

Main Methods:

  • Thirty-seven prenatal cases with ultrasound-detected MCDK were analyzed using CMA (Affymetrix CytoScan HD).
  • CNV frequencies were compared to control groups: 461 CMA cases without CAKUT and 124 healthy newborns.
  • Detected CNVs were validated using multiplex ligation-dependent probe amplification (MLPA) or quantitative PCR (qPCR).

Main Results:

  • Pathogenic CNVs were identified in 13.5% (5/37) of MCDK cases.
  • Specific CNVs included deletions at 17q12, 22q11.2, and a duplication at 1q31.3q44.
  • Three of the five pathogenic CNVs were maternally or paternally inherited, with varying clinical presentations in family members.

Conclusions:

  • A significant portion of MCDK cases are associated with clinically relevant pathogenic CNVs.
  • CMA is a valuable tool for prenatal diagnosis of MCDK, revealing genetic causes and informing genetic counseling.
  • Performing CMA upon prenatal detection of MCDK is clinically justified due to the identification of pathogenic CNVs.

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