OBJECTIVES To systematically investigate chromosomal abnormalities and copy number variants (CNVs) in fetuses with different types of ventriculomegaly (VM) by karyotyping and/or chromosomal microarray analysis (CMA). METHODS This retrospective study included 312 fetuses diagnosed with VM. Amniotic fluid and umbilical blood samples were collected by amniocentesis and cordocentesis, respectively, and subjected to karyotyping and/or CMA. Subgroup analysis by VM type, including mild VM (MVM) and severe VM (SVM), unilateral and bilateral VM, isolated VM (IVM), and non-isolated VM (NIVM), was performed. RESULTS The detection rate of chromosomal abnormalities was 12.1% (34/281) by karyotyping and 20.6% when CMA was additionally performed (P < 0.05). Abnormalities were identified by CMA in 17.4% (38/218) of fetuses and pathogenic CNVs in 5.0% (11/218). Notably, CMA detected CNVs in 10.6% (23/218) of fetuses with normal karyotypes. The incidence of chromosomal abnormalities by karyotyping was higher in bilateral than in unilateral VM (20.5% versus 6.5%), whereas the incidence detected by CMA was higher in NIVM than in IVM (21.4% versus 10.3%; both P < 0.05). In NIVM, CMA provided an additional detection rate of 11.4% (16/140) and a detection rate of 10.0% for pathogenic CNVs and aneuploidies. Central nervous system (CNS) abnormalities were the most common other ultrasonic abnormalities. CONCLUSIONS CMA is highly recommended for prenatal diagnosis of fetal VM together with karyotyping, especially in fetuses with bilateral VM and NIVM with abnormal CNS findings. Further study is necessary to explore the relationships between genotypes and phenotypes to facilitate prenatal diagnosis of fetal VM.

中文翻译：

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脑室扩大胎儿染色体异常和拷贝数变异的产前检测

目的 通过核型分析和/或染色体微阵列分析 (CMA) 系统地研究不同类型脑室扩大 (VM) 胎儿的染色体异常和拷贝数变异 (CNV)。方法 这项回顾性研究包括 312 名诊断为 VM 的胎儿。分别通过羊膜穿刺术和脐带穿刺术收集羊水和脐血样本，并进行核型分析和/或 CMA。按 VM 类型进行亚组分析，包括轻度 VM (MVM) 和重度 VM (SVM)、单侧和双侧 VM、孤立 VM (IVM) 和非孤立 VM (NIVM)。结果 核型分析染色体异常检出率为12.1%（34/281），加用CMA检出率为20.6%（P < 0.05）。CMA 在 17.4% (38/218) 的胎儿中发现异常，在 5.0% (11/218) 中发现致病性 CNV。值得注意的是，CMA 在 10.6% (23/218) 的正常核型胎儿中检测到 CNV。双侧 VM 染色体异常的发生率高于单侧 VM（20.5% 对 6.5%），而 CMA 检测到的 NIVM 染色体异常发生率高于 IVM（21.4% 对 10.3%；均 P < 0.05）。在 NIVM 中，CMA 为致病性 CNV 和非整倍体提供了 11.4% (16/140) 的额外检出率和 10.0% 的检出率。中枢神经系统 (CNS) 异常是最常见的其他超声异常。结论 强烈推荐 CMA 与核型分析一起用于胎儿 VM 的产前诊断，尤其是双侧 VM 和 NIVM 且 CNS 发现异常的胎儿。有必要进一步研究探索基因型和表型之间的关系，以促进胎儿 VM 的产前诊断。