Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Eur J Paediatr Neurol. 2020 Mar;25:106-112. doi: 10.1016/j.ejpn.2020.01.016. Epub 2020 Jan 22.
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).
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.
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.
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.
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张（VM）胎儿的染色体异常和拷贝数变异（CNVs）。
本回顾性研究纳入了 312 例诊断为 VM 的胎儿。通过羊膜穿刺术和脐带穿刺术分别采集羊水和脐血样本，并进行核型分析和/或 CMA。根据 VM 类型（包括轻度 VM [MVM]和重度 VM [SVM]、单侧和双侧 VM、孤立性 VM [IVM]和非孤立性 VM [NIVM]）进行亚组分析。
核型分析的染色体异常检出率为 12.1%（34/281），当 CMA 额外进行时为 20.6%（P<0.05）。CMA 在 17.4%（38/218）的胎儿中发现异常，在 5.0%（11/218）的胎儿中发现致病性 CNVs。值得注意的是，CMA 在 10.6%（23/218）核型正常的胎儿中检测到 CNVs。核型分析的染色体异常发生率在双侧 VM 中高于单侧 VM（20.5%对 6.5%），而 CMA 的检出率在 NIVM 中高于 IVM（21.4%对 10.3%；均 P<0.05）。在 NIVM 中，CMA 提供了 11.4%（16/140）的额外检出率，致病性 CNVs 和非整倍体的检出率为 10.0%。中枢神经系统（CNS）异常是最常见的其他超声异常。
建议在核型分析的基础上，对胎儿 VM 进行 CMA 检查，特别是在双侧 VM 和伴有 CNS 异常的 NIVM 胎儿中。需要进一步研究以探讨基因型和表型之间的关系，以促进胎儿 VM 的产前诊断。
