Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis
Joint Authors
Sun, Lijuan
Wu, Qingqing
Yan, Yani
Wang, Xin
Zhang, Juan
Liu, Yan
Yao, Ling
Ma, Yuqing
Wang, Li
Jiang, Shi-Wen
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-12
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
The aims of this study were to evaluate the contribution of chromosomal microarray analysis (CMA) in the prenatal diagnosis of fetuses with central nervous system (CNS) anomalies but normal chromosomal karyotype.
A total of 46 fetuses with CNS anomalies with or without other ultrasound anomalies but normal karyotypes were evaluated by array-based comparative genomic hybridisation (aCGH) or single-nucleotide polymorphism (SNP) array.
The result showed that CNVs were detected in 17 (37.0%) fetuses.
Of these, CNVs identified in 5 (5/46, 10.9%) fetuses were considered to be likely pathogenic, and CNVs detected in 3 (3/46, 6.5%) fetuses were defined as being of uncertain clinical significance.
Fetuses with CNS malformations plus other ultrasound anomalies had a higher rate of pathogenic CNVs than those with isolated CNS anomalies (13.6% versus 8.3%), but there was no significant difference (Fisher’s exact test, P>0.05).
Pathogenic CNVs were detected most frequently in fetuses with Dandy-Walker syndrome (2/6, 33.3%) when compared with other types of neural malformations, and holoprosencephaly (2/7, 28.6%) ranked the second.
CMA is valuable in prenatal genetic diagnosis of fetuses with CNS anomalies.
It should be considered as part of prenatal diagnosis in fetuses with CNS malformations and normal karyotypes.
American Psychological Association (APA)
Sun, Lijuan& Wu, Qingqing& Jiang, Shi-Wen& Yan, Yani& Wang, Xin& Zhang, Juan…[et al.]. 2015. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International،Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
Modern Language Association (MLA)
Sun, Lijuan…[et al.]. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International No. 2015 (2015), pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
American Medical Association (AMA)
Sun, Lijuan& Wu, Qingqing& Jiang, Shi-Wen& Yan, Yani& Wang, Xin& Zhang, Juan…[et al.]. Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-9.
https://search.emarefa.net/detail/BIM-1055443
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055443