Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system.

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ID: 45890
2019
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Abstract
This study aimed to explore the relationships between urinary anomalies and copy number variations (CNVs) in fetuses and provide information for prenatal diagnosis and genetic counseling for parents.Three hundred seventeen fetuses with urinary system anomalies detected by prenatal ultrasound were enrolled; 251 had isolated urinary system anomalies, and 66 had nonisolated system anomalies. CMA was performed on the Affymetrix 750K platform.The frequency of chromosomal aberrations in fetuses with urinary system anomalies was 11.04%, including 6.31% with pathogenic CNVs (pCNVs). The detection rate of chromosomal abnormalities was significantly higher for the fetuses with nonisolated urinary system anomalies than for those with isolated urinary system anomalies. Seven fetuses (25.93%) with echogenic kidneys were identified with pCNVs; this detection rate was significantly higher than that for fetuses with other urinary anomalies. A 17q12 deletion was detected in eight fetuses with urinary anomalies, accounting for 40% of pCNVs.CMA is especially valuable in the prenatal diagnosis of fetuses with urinary system anomalies. The pCNV rates differed between the isolated and nonisolated subgroups of urinary anomalies. Fetuses with echogenic kidneys had the highest rate of pCNVs. The 17q12 deletion was the most frequent pCNV in fetuses with urinary anomalies.
Reference Key
hu2019prenatalprenatal Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Hu, Ting;Zhang, Zhu;Wang, Jiamin;Li, Qinqin;Zhu, Hongmei;Lai, Yi;Wang, He;Liu, Shanling;
Journal prenatal diagnosis
Year 2019
DOI
10.1002/pd.5550
URL
Keywords
mri, magnetic resonance imaging bioethics biobanks egf, ethical governance framework elsi, ethical, legal and social implications esc, european society of cardiology framework gnc, german national cohort gp, general practitioners if, incidental findings irbs, institutional review boards incidental finding nhi, national health insurance nih, national institutes of health p3g, public population project in genomics and society twb, taiwan biobank the wma declaration of taipei (2016) unesco, united nations education scientific and cultural organization wma, world medical association

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