Copy number variations associated with fetal congenital kidney malformations
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...
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doaj-c8243580e11c47288a4fde67ffec63d92020-11-25T02:28:40ZengBMCMolecular Cytogenetics1755-81662020-03-011311610.1186/s13039-020-00481-7Copy number variations associated with fetal congenital kidney malformationsMeiying Cai0Na Lin1Linjuan Su2Xiaoqing Wu3Xiaorui Xie4Ying Li5Xuemei Chen6Yuan Lin7Hailong Huang8Liangpu Xu9Department 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectDepartment 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 DefectAbstract 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.http://link.springer.com/article/10.1186/s13039-020-00481-7Copy-number variationsEtiologyChromosomal microarray analysisRenal hypodysplasia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Meiying Cai Na Lin Linjuan Su Xiaoqing Wu Xiaorui Xie Ying Li Xuemei Chen Yuan Lin Hailong Huang Liangpu Xu |
spellingShingle |
Meiying Cai Na Lin Linjuan Su Xiaoqing Wu Xiaorui Xie Ying Li Xuemei Chen Yuan Lin Hailong Huang Liangpu Xu Copy number variations associated with fetal congenital kidney malformations Molecular Cytogenetics Copy-number variations Etiology Chromosomal microarray analysis Renal hypodysplasia |
author_facet |
Meiying Cai Na Lin Linjuan Su Xiaoqing Wu Xiaorui Xie Ying Li Xuemei Chen Yuan Lin Hailong Huang Liangpu Xu |
author_sort |
Meiying Cai |
title |
Copy number variations associated with fetal congenital kidney malformations |
title_short |
Copy number variations associated with fetal congenital kidney malformations |
title_full |
Copy number variations associated with fetal congenital kidney malformations |
title_fullStr |
Copy number variations associated with fetal congenital kidney malformations |
title_full_unstemmed |
Copy number variations associated with fetal congenital kidney malformations |
title_sort |
copy number variations associated with fetal congenital kidney malformations |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2020-03-01 |
description |
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. |
topic |
Copy-number variations Etiology Chromosomal microarray analysis Renal hypodysplasia |
url |
http://link.springer.com/article/10.1186/s13039-020-00481-7 |
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