Abstract
BackgroundCongenital 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.ResultsWe 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.ConclusionsThe variable phenotypes that abnormal CNVs may cause indicate the genetic counseling is needed for RHD cases.
Highlights
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations
A few postnatal cases with congenital renal hypodysplasia (RHD) have been reported to be associated with copy-number variations (CNVs) [3], which drew our attention to the underlying utility of single-nucleotide polymorphism (SNP)-array test in the prenatal diagnosis of congenital RHD; we came up with the idea that it could be a genetic disease rather than a sporadic one
We identified abnormal CNVs in 15 (12.5%) cases of RHD; of these 15 CNVs, 11 were pathogenic and 4 were variants of uncertain clinical significance (VUS)
Summary
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 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. Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations, and their prevalence is between three and seven per 1000 births [1]. Within the CAKUT phenotypic spectrum, renal aplasia, agenesis, hypoplasia, and dysplasia (referred as renal hypodysplasia [RHD]) [3] are severe conditions, affecting 0.5% of the general population [4]. We performed a systematic investigation of abnormal CNVs in fetuses with congenital RHD using Chromosomal Microarray Analysis (CMA)
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