Ventriculomegaly is considered to be linked to abnormal neurodevelopment outcome. The aim of this retrospective study was to investigate the current applications of chromosomal microarray analysis (CMA) in foetuses with ventriculomegaly. A total of 548 foetuses with ventriculomegaly detected by prenatal ultrasound underwent single nucleotide polymorphism (SNP) array testing and were subjected to long-term follow-up. The overall prevalence of chromosomal aberrations was 7.30% (40/548), including 4.20% (23/548) with pathogenic/likely pathogenic copy number variants. The incidence of chromosomal aberrations was significantly higher in foetuses with bilateral ventriculomegaly than in those with unilateral ventriculomegaly (10.56% vs. 5.71%, P = 0.040), in foetuses with non-isolated ventriculomegaly than in those with isolated ventriculomegaly (12.99% vs. 2.38%, P < 0.0001), and in foetuses with severe ventriculomegaly than in those with mild-to-moderate ventriculomegaly (23.08% vs. 6.51%, P = 0.005). The outcome in foetuses with mild ventriculomegaly was significantly better than in those with moderate ventriculomegaly (95.60% vs. 84.00%, P = 0.003). Thus, CMA should be regarded as the first-tier test for prenatal diagnosis of foetal ventriculomegaly, especially in foetuses with bilateral or non-isolated ventriculomegaly. The outcome of foetuses with mild ventriculomegaly is favourable; however, there is an increased risk of neurodevelopmental disabilities in foetuses with moderate ventriculomegaly.

脑室肥大被认为与神经发育异常有关。这项回顾性研究的目的是研究染色体微阵列分析（CMA）在心室肥大胎儿中的当前应用。通过产前超声检查发现的总共548例脑室大的胎儿接受了单核苷酸多态性（SNP）阵列测试，并进行了长期随访。染色体畸变的总体患病率为7.30％（40/548），其中包括4.20％（23/548）的致病性/可能致病性拷贝数变异。双侧脑室扩大胎儿的染色体畸变发生率明显高于单侧脑室扩大胎儿（10.56％vs. 5.71％，P = 0.040），非孤立性脑室肥大的胎儿（12.99％vs.2.38％，P  <0.0001），以及严重脑室肥大的胎儿比轻度至中度脑室大的胎儿（23.08％vs. 6.51％，P  = 0.005）。轻度脑室大的胎儿的结局明显优于中度脑室大的胎儿（95.60％vs. 84.00％，P = 0.003）。因此，CMA应该被认为是胎儿心室肥大的产前诊断的一线检查，尤其是在双侧或非孤立性心室肥大的胎儿中。轻度心室大的胎儿的结局是有利的。然而，中度心室大的胎儿神经发育障碍的风险增加。