Copy number variations associated with fetal congenital kidney malformations

Autor: Xiaorui Xie, Yuan Lin, Linjuan Su, Xuemei Chen, Meiying Cai, Liangpu Xu, Ying Li, Hailong Huang, Xiaoqing Wu, Na Lin
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Molecular Cytogenetics
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00481-7
Popis: 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.
Databáze: OpenAIRE
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