摘要
目的:探讨神经学超声检查在产前诊断胎儿皮质发育畸形(MCD)中的应用价值。方法:选择2020年7月至2022年12月因“胎儿颅脑发育异常”于南京大学医学院附属鼓楼医院母胎医学中心行神经学超声检查胎儿,评估颅内病灶及皮质发育,所有胎儿均接受磁共振(MRI)检查,超声检查结果与MRI和(或)病理结果相对照,同时建议行遗传学检查。结果:神经学超声检查共发现12例MCD胎儿,主要类型为小头畸形2例,无脑回2例,多小脑回8例和灰质异位2例,其中2例同时出现两种类型MCD。相关的颅内超声指标有外侧裂发育异常6例,皮质里程碑延迟出现7例,脑沟过早或异常出现8例,脑沟回形状和方向异常10例,脑室边界不规则2例和大脑半球不对称2例。12例MCD胎儿均伴有颅内结构异常,2例伴发颅外异常,神经学超声结果与MRI吻合10例(83.3%),补充诊断无脑回1例,漏诊灰质异位1例。8例(66.7%)接受染色体微阵列分析,其中2例(25%)发现致病性变异。12例MCD胎儿均引产,其中5例经病理检查证实。结论:神经学超声检查可在宫内发现MCD相关的颅内超声指标,明确MCD分类,提高其产前诊断率,诊断效能与MRI相似;对怀疑MCD胎儿,应建议进一步遗传学检查明确病因,从而更好地指导产前随访和管理。
Objective:To explore the value of neurosonography in the prenatal diagnosis of malformations of cortical development(MCD).Methods:Fetuses of suspected brain malformations referred to the Maternal-Fetal Medical Center of our hospital between July 2020 and December 2022 were included.The intracranial lesions and cortical development were evaluated through neurosonography and MRI.The ultrasonographic findings were compared with the results of the magnetic resonance imaging and/or pathology examination.Genetic testing was recommended if possible.Results:We suspected the presence of MCD by neurosonography in 12 fetuses,with microcephaly(n=2),lissencephaly(n=2),polymicrogyria(n=8)and heterotopia(n=2),among which two cases showed two types of MCD.Intracranial imaging signs were as follows:abnormal development of the Sylvian fissure(n=6),delayed achievement of cortical milestones(n=7),premature or aberrant appearance of sulcation(n=8),abnormal shape and orientation of the sulci and gyri(n=10),irregular ventricular borders(n=2)and asymmetric hemisphere(n=2).All fetuses presented with associated intracranial abnormalities and two had extracranial anomalies.The results of MCD were consistent with MRI in 10 cases(83.3%),with 1 case having lissencephaly as a supplementary diagnosis and 1 case missing heterotopia.We performed chromosomal microarray analysis in 66.7%of cases(8/12)and detected pathogenic variants in 25%(2/8).All parents opted for termination of pregnancy,and pathology examination confirmed MCD in 5.Conclusions:Based on the presence of intracranial imaging signs,neurosonography can diagnose MCD in utero,classify it and improve its prenatal diagnosis rate.The diagnostic performance was similar to that of MRI.For suspected MCD fetuses,genetic testing should be recommended to further clarify the etiology,thereby better guiding appropriate prenatal follow-up and management.
作者
徐燕
茹彤
朱湘玉
严陈晨
陈玲
Xu Yan;Ru Tong;Zhu Xiangyu(Maternal-Fetal Medical Center,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008)
出处
《现代妇产科进展》
2024年第10期741-746,共6页
Progress in Obstetrics and Gynecology
基金
南京市卫生局课题(No:YKK20077)
南京鼓楼医院培育项目(No:2021-LCYJ-PY-11)。
关键词
皮质发育畸形
胎儿
神经学超声检查
磁共振成像
Malformation of cortical development
Fetus
Neurosonography
Magnetic resonance imaging
