Guo Danhua, He Deqin, Shen Qingmei, Lin Na, He Shuqiong, Dai Yifang, Li Ying, Xu Liangpu, Wu Xiaoqing
Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou City, Fujian Province, People's Republic of China.
Department of Laboratory Medicine, Fujian Medical University, Fuzhou, 350002, Fujian, People's Republic of China.
Int J Gen Med. 2021 Nov 5;14:7719-7728. doi: 10.2147/IJGM.S335011. eCollection 2021.
This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM).
Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging. Subgroups of mild, moderate, and severe were determined according to lateral ventricle widths. The NIBVM group was further classified into pregnancies with soft markers, non-structural abnormalities, and structural abnormalities.
A total of 353 pregnancies were enrolled, including 153 cases of IBVM and 200 cases of NIBVM. Conventional karyotyping was performed on 192 samples, and 15 cases of numerical abnormalities and 3 cases of unbalanced structural abnormalities were identified. Chromosomal microarray analysis (CMA) was concurrently performed on 108 of them and revealed additional 5 cases (4.7%) of copy number variants with clinical significance. CMV DNA testing was performed on 154 of the 192 cases that underwent invasive prenatal diagnosis, and a positive result was found in 2 (1.3%) cases. In the IBVM group, the percentage of favorable prognosis in the mild, moderate and severe pregnancies were 94.4%, 79.2%, and 4.8%, respectively, and the termination of pregnancy (TOP) rates were 4.6%, 20.8%, and 85.7%, respectively. In both the mild and moderate NIBVM, the TOP rates progressively increased and the favorable prognosis survival rates progressively decreased relative to the soft markers, non-structural abnormalities, and structural abnormalities, respectively. Approximately 94.1% of severe NIBVM ended in termination.
Genetic disorders and fetal infection are important etiology of BVM. CMA is highly recommended for genetic disorders' evaluation. Pregnancies with severe BVM always ended in TOP, while in mild-to-moderate NIBVM, prenatal imaging by ultrasound and/or MRI plays important roles in the pregnancy outcomes.
本回顾性研究旨在系统评估双侧脑室扩大（BVM）胎儿的遗传疾病、巨细胞病毒（CMV）感染、额外超声检查结果及结局。
获取2014年至2020年期间有胎儿BVM的妊娠数据。根据产前影像学检查结果，将病例分为单纯双侧脑室扩大（IBVM）组和非单纯双侧脑室扩大（NIBVM）组。根据侧脑室宽度确定轻度、中度和重度亚组。NIBVM组进一步分为伴有软指标、非结构异常和结构异常的妊娠。
共纳入353例妊娠，其中IBVM 153例，NIBVM 200例。对192份样本进行了常规核型分析，鉴定出15例数目异常和3例结构不平衡异常。同时对其中108例进行了染色体微阵列分析（CMA），发现另外5例（4.7%）具有临床意义的拷贝数变异。对192例接受侵入性产前诊断的病例中的154例进行了CMV DNA检测，2例（1.3%）结果呈阳性。在IBVM组中，轻度、中度和重度妊娠的良好预后百分比分别为94.4%、79.2%和4.8%，终止妊娠（TOP）率分别为4.6%、20.8%和85.7%。在轻度和中度NIBVM中，相对于软指标、非结构异常和结构异常，TOP率分别逐渐升高，良好预后生存率分别逐渐降低。约94.1%的重度NIBVM以终止妊娠告终。
遗传疾病和胎儿感染是BVM的重要病因。强烈推荐进行CMA以评估遗传疾病。重度BVM妊娠通常以终止妊娠告终，而在轻度至中度NIBVM中，超声和/或MRI产前影像学检查对妊娠结局起重要作用。
