Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital,Prenatal Diagnosis

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Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-09-14 , DOI: 10.1002/pd.5829
Maddalena Santirocco _{1,

2} , Alberto Plaja _{2,

3} , Carlota Rodó _{1,

2} , Irene Valenzuela ₃ , Silvia Arévalo _{1,

2} , Neus Castells _{2,

3} , Anna Abuli _{2,

3} , Eduardo Tizzano _{2,

3} , Nerea Maiz _{1,

2} , Elena Carreras _{1,

2}

Affiliation

To evaluate the prevalence of DNA copy number variants (CNVs) detected with array comparative genomic hybridization (CGH) in fetuses with central nervous system (CNS) anomalies. Secondary objectives were to describe the prevalence of CNV in specific CNS abnormalities, in isolated defects or associated with other malformations or fetal growth restriction (FGR).

中文翻译：

中枢神经系统异常胎儿的染色体微阵列分析：来自三级保健大学医院的一项为期 8 年的观察性研究

评估在中枢神经系统 (CNS) 异常胎儿中使用阵列比较基因组杂交 (CGH) 检测到的 DNA 拷贝数变异 (CNV) 的流行率。次要目标是描述 CNV 在特定 CNS 异常、孤立缺陷或与其他畸形或胎儿生长受限 (FGR) 相关的患病率。

更新日期：2020-09-14

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