胎儿侧脑室和(或)后颅窝池增宽影像学评价与致病性拷贝数变异的差异

Differences in imaging evaluation of fetal lateral ventricle and(or) posterior cerebral fossa cistern enlargement with pathogenic copy number variation

目的:探讨胎儿侧脑室增大(VM)和(或)后颅窝池增宽(PCFCE)影像学评价与致病性拷贝数变异(CNVs)的差异。方法:收集2015年1月至2020年10月温州医科大学附属第二医院育英儿童医院及玉环市人民医院经产前超声诊断为胎儿VM和(或)PCFCE共1 114例,其中468例胎儿行MRI及染色体核型分析(16~24周羊水检测317例,24~38周脐血检测151例),染色体核型正常胎儿440例行全基因组高分辨染色体微阵列分析(CMA)检测,分析胎儿VM和(或)PCFCE程度与各系统畸形及CNVs的差异,评估妊娠结局。结果:(1)468例胎儿中,染色体核型异常发生率为5.98%(28/468),其中数目异常11例,结构异常10,数目+结构异常7例,28例均引产;440例染色体核型正常胎儿中,致病性CNVs发生率为8.41%(37/440)。(2)440例染色体核型正常胎儿中,重度VM和(或)PCFCE组致病性CNVs发生率高于轻中度组(13.71%vs. 6.33%,P=0.012);三组间致病性CNVs发生率比较为VM+PCFCE>单纯PCFCE>单纯VM(12.14%vs. 11.69%vs. 4.93%,P=0.029)。(3)37例致病性CNVs胎儿中,并发中枢神经系统畸形5例,泌尿生殖系统4例,心脏大血管畸形5例,消化系统畸形2例。(4)重度VM和(或)PCFCE组胎儿畸形发生率高于轻中度组(7.26%vs. 2.22%,P=0.020);37例致病性CNVs胎儿中,引产23例,分娩14例。结论:重度VM和(或)PCFCE组发生致病性CNVs及胎儿畸形率较高,VM+PCFCE组致病性CNVs高于单纯VM或PCFCE组;精准的影像学评估有助于VM和(或)PCFCE胎儿的宫内转归、临床评估和遗传咨询。

Objective: To investigate the difference between the imaging evaluation of fetal lateral ventriculomegaly(VM) and/or posterior cerebral fossa cistern enlargement(PCFCE) and pathogenic copy number variants(CNVs). Methods: From January 2015 to October 2020, the fetuses diagnosed with VM and/or PCFCE were collected from the Second Affiliated Hospital of Wenzhou Medical University and Yuhuan People’s Hospital by prenatal ultrasound. A total of 1 114 cases, of which 468 fetuses underwent MRI and karyotype analysis(16-24 week, amniotic fluid detection in 317 cases;24-38 week, cord blood test in 151 cases), and 440 fetuses with normal karyotype underwent whole-genome high-resolution chromosome microarray analysis(CMA) detection.Difference between fetal VM and/or PCFCE degree with malformations in all systems and CNVs was analyzed,pregnancy outcome was evaluated. Results: Among 468 fetuses, the incidence rate in abnormal chromosomal karyotypes was 5.98%(28/468), of which 11 were abnormal in number, 10 in structure, 7 in number+structure,and all 28 cases induced labor;Among 440 fetuses with normal karyotype, the incidence of pathogenic CNVs was 8.41%(37/440). Among 440 fetuses with normal karyotype, the incidence of pathogenic CNVs in severe VM and/or PCFCE group was higher than that in mild to moderate group(13.71% vs. 6.33%, P=0.012).The incidence of pathogenic CNVs among simple VM, simple PCFC and VM+PCFCE was VM+PCFCE >simple PCFCE > simple VM(12.14% vs. 11.69% vs. 4.93%, P=0.029). Among 37 cases of CNVs, 5 cases were complicated with central nervous system malformation, 4 cases were complicated with genitourinary system, 5 cases were complicated with cardiac macrovascular malformation, 2 cases were complicated with digestive system malformation. The incidence of fetal malformation in severe VM and/or PCFCE group was higher than that in mild to moderate group(7.26% vs. 2.22%, P=0.020). Among the 37 fetuses with pathogenic CNVs, 23 cases were induced labor and 14 cases were delivered. Conclusion: The incidence of pathogenic CNVs and fetal malformations was higher in severe VM and/or PCFCE group, and the pathogenic CNVs in VM+PCFCE group was higher than that in simple VM or PCFCE group. Accurate imaging evaluation is helpful for intrauterine outcome, clinical evaluation and genetic counseling of VM and/or PCFCE fetuses.