Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution Chromosomal Microarray Analysis

Content Provider	Semantic Scholar
Author	Sun, Lijuan Wu, Qingqing Jiang, Shi-Wen Yan, Yani Wang, Xin Yao, Ling Ma, Yuqing Wang, Li
Copyright Year	2015
Abstract	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.
File Format	PDF HTM / HTML
DOI	10.1155/2015/426379
PubMed reference number	26064910
Journal	Medline
Volume Number	2015
Alternate Webpage(s)	http://downloads.hindawi.com/journals/bmri/2015/426379.pdf
Alternate Webpage(s)	https://doi.org/10.1155/2015%2F426379
Journal	BioMed research international
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article