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Copy number variations associated with fetal congenital kidney malformations

机译：复制与胎儿先天性肾脏畸形相关的拷贝数变异

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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.? The Author(s) 2020.
机译：背景：肾脏和泌尿道（Cakut）的先天性异常构成了所有先天性畸形的20-30％。在Cakut表型谱中，肾脏钠钠脑（RHD）特别严重。本研究旨在评估单核苷酸多态性（SNP）阵列试验在rhD的产前诊断中的适用性改善产前遗传咨询，并寻找返回拷贝数变异（CNV）的可能致病作用的证据：我们对120胎的CNV负担进行了系统调查，其中RHD：103例分离RHD，17例是非分离的RHD。使用Affymetrix Cytoscan HD平台进行单核苷酸多态性（SNP）阵列试验。所有注释的CNV都是通过原位杂交的荧光验证的。我们鉴定了15例（12.5％）RHD的异常CNV;在这些CNV中，11个是致病性的，并且4个是不确定意义的变体。非分离RHD中的异常CNV的检出率较高（29.4％，5/17），而不是分离的RHD（9.7％，10/103）（p？= 0.060）。父母更倾向于终止妊娠，如果胎儿具有SNP阵列试验的致病结果。结论：异常CNV的可变表型可能导致RHD病例需要遗传咨询。作者2020年。

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