Copy number variations associated with fetal congenital kidney malformations

Meiying Cai; Na Lin; Linjuan Su; Xiaoqing Wu; Xiaorui Xie; Ying Li; Xuemei Chen; Yuan Lin; Hailong Huang; Liangpu Xu

doi:10.1186/s13039-020-00481-7

Molecular Cytogenetics (Mar 2020)

Copy number variations associated with fetal congenital kidney malformations

Meiying Cai,
Na Lin,
Linjuan Su,
Xiaoqing Wu,
Xiaorui Xie,
Ying Li,
Xuemei Chen,
Yuan Lin,
Hailong Huang,
Liangpu Xu

Affiliations

Meiying Cai: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Na Lin: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Linjuan Su: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Xiaoqing Wu: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Xiaorui Xie: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Ying Li: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Xuemei Chen: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Yuan Lin: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Hailong Huang: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect
Liangpu Xu: Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect

DOI: https://doi.org/10.1186/s13039-020-00481-7
Journal volume & issue: Vol. 13, no. 1
pp. 1 – 6

Abstract

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Abstract Background Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This study aimed to evaluate the applicability of single-nucleotide polymorphism (SNP) array test in prenatal diagnosis of RHD for improving prenatal genetic counseling and to search for evidence of a possible causative role of copy-number variations (CNVs) in RHD. Results We performed a systematic survey of CNV burden in 120 fetuses with RHD: 103 cases were isolated RHD and 17 were non-isolated RHD. Single-nucleotide polymorphism (SNP) array test was performed using the Affymetrix CytoScan HD platform. All annotated CNVs were validated by fluorescence in situ hybridization. We identified abnormal CNVs in 15 (12.5%) cases of RHD; of these CNVs, 11 were pathogenic and 4 were variants of uncertain significance. The detection rate of abnormal CNVs in non-isolated RHD was higher (29.4%, 5/17) than that in isolated RHD (9.7%, 10/103) (P = 0.060). Parents are more inclined to terminate the pregnancy if the fetuses have pathogenic results of the SNP-array test. Conclusions The variable phenotypes that abnormal CNVs may cause indicate the genetic counseling is needed for RHD cases.

Published in Molecular Cytogenetics

ISSN: 1755-8166 (Online)
Publisher: BMC
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics
Website: https://molecularcytogenetics.biomedcentral.com/

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