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2015 ; 2015
(ä): 426379
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Prenatal Diagnosis of Central Nervous System Anomalies by High-Resolution
Chromosomal Microarray Analysis
#MMPMID26064910
Sun L
; Wu Q
; Jiang SW
; Yan Y
; Wang X
; Zhang J
; Liu Y
; Yao L
; Ma Y
; Wang L
Biomed Res Int
2015[]; 2015
(ä): 426379
PMID26064910
show ga
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.
|*Microarray Analysis
[MESH]
|*Prenatal Diagnosis
[MESH]
|Central Nervous System Diseases/blood/*genetics/physiopathology
[MESH]