Wang Yan, Hu Ping, Xu Zhengfeng
Department of Prenatal Diagnosis, State Key Laboratory of Reproductive Medicine, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu Province, China.
Curr Opin Obstet Gynecol. 2018 Apr;30(2):104-110. doi: 10.1097/GCO.0000000000000439.
Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly. Recently, with the introduction of chromosomal microarray analysis (CMA) in prenatal diagnosis, copy number variations (CNVs) have been identified in cases of ventriculomegaly. The purpose of this review is to summarize the current knowledge about the genetic cause of fetal ventriculomegaly, with particular attention to primary articles regarding the association between CNVs and fetal ventriculomegaly.
Recent studies have disclosed that in addition to numerical chromosomal abnormalities and large chromosomal imbalances, pathogenic CNVs are another important genetic cause of fetal ventriculomegaly, which may be involved in the pathological process of fetal ventriculomegaly as well as postnatal neurodevelopmental disorders. Furthermore, it is reported that the incidences of pathogenic CNVs in fetuses with ventriculomegaly were associated with the presence of other structural anomalies, but were irrelevant to the severity of ventriculomegaly.
CNVs are an important cause of fetal ventriculomegaly and CMA should be offered to all fetuses with ventriculomegaly, regardless of the degree of ventriculomegaly or whether combined with other structural anomalies.
脑室扩大是最常见的超声异常表现之一，与先天性感染、染色体及其他结构异常相关。目前，核型分析是检测脑室扩大胎儿染色体异常的主要方法。近年来，随着染色体微阵列分析（CMA）在产前诊断中的应用，在脑室扩大病例中已发现拷贝数变异（CNV）。本综述旨在总结目前关于胎儿脑室扩大遗传病因的知识，尤其关注有关CNV与胎儿脑室扩大关联的原始文章。
近期研究表明，除了染色体数目异常和大片段染色体失衡外，致病性CNV是胎儿脑室扩大的另一个重要遗传病因，可能参与胎儿脑室扩大的病理过程以及出生后的神经发育障碍。此外，据报道，脑室扩大胎儿中致病性CNV的发生率与其他结构异常的存在有关，但与脑室扩大的严重程度无关。
CNV是胎儿脑室扩大的重要病因，对于所有脑室扩大的胎儿，无论脑室扩大程度如何或是否合并其他结构异常，均应进行CMA检测。
