Author:
Cai Meiying,Lin Na,Su Linjuan,Wu Xiaoqing,Xie Xiaorui,Li Ying,Chen Xuemei,Lin Yuan,Huang Hailong,Xu Liangpu
Abstract
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.
Funder
the Key Special Projects of Fujian Provincial Department of Science and Technology
the Key Clinical Specialty Discipline Construction Program of Fujian
the Fujian Provincial Natural Science Foundation
Research fund project of Fujian Provincial Maternity and Children’s Hospital
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
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