胎儿外侧裂异常的产前影像学分类及相关疾病  

Prenatal imaging classification and potential diseases of fetal abnormal sylvian fissure

作　　者：廖伊梅 汪兵[2] 文华轩 欧阳淑媛 韩洞明 罗彩群 刘阳 刘炳光 曾晴 秦越 罗丹丹 梁美玲 温昕 陈芷萱 向海山 袁鹰 成官迅[2] 李胜利 Liao Yimei;Wang Bing;Wen Huaxuan;Ouyang Shuyuan;Han Dongming;Luo Caiqun;Liu Yang;Liu Bingguang;Zeng Qing;Qin Yue;Luo Dandan;Liang Meiling;Wen Xin;Chen Zhixuan;Xiang Haishan;Yuan Ying;Cheng Guanxun;Li Shengli(Department of Ultrasound,Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University,Shenzhen 518028,China;Department of Radiology,Peking University Shenzhen Hospital,Shenzhen 518035,China;Department of Central Laboratory,Affiliated Shenzhen Maternity&Child Healthcare Hospital,Southern Medical University,Shenzhen 518028,China;College of Life Sciences,University of Chinese Academy of Sciences,Shenzhen 518028,China;Department of Radiology,Affiliated Shenzhen Maternity&Child Healthcare Hospital,Southern Medical University,Shenzhen 518028,China;Institute of Maternity and Child Medical Research,Shenzhen Maternity and Child Healthcare Hospital Affiliated to Nanfang Medical University,Shenzhen 518028,China)

机构地区：[1]南方医科大学附属深圳妇幼保健院超声科,深圳518028 [2]北京大学深圳医院放射科,深圳518035 [3]南方医科大学附属深圳妇幼保健院中心实验室,深圳518028 [4]中国科学院大学生命科学学院,深圳518028 [5]南方医科大学附属深圳妇幼保健院放射科,深圳518028 [6]南方医科大学附属深圳妇幼保健院妇幼医学研究所,深圳518028

出　　处：《中华超声影像学杂志》2023年第3期211-219,共9页Chinese Journal of Ultrasonography

基　　金：深圳市科技计划项目(JCYJ20220530155208018,JCYJ20210324130812035)。

摘　　要：目的分析胎儿外侧裂异常的超声图像特征及相关疾病,探讨全基因组测序技术在胎儿外侧裂异常中的应用价值。方法前瞻性纳入2018年10月至2020年10月在南方医科大学附属深圳妇幼保健院被诊断为外侧裂异常的胎儿28例。对胎儿颅脑进行详细神经超声评估及MRI检查。采集羊水/脐血或出生后脐带组织用于全基因组测序。记录妊娠结局、产后MRI结果,活产婴儿的神经发育随访需超出生后24个月。结果28例外侧裂异常胎儿孕周21.3~30.0(24.8±2.0)周。28例胎儿中包括脑皮质发育畸形(15例,53.6%)、可导致发育迟缓的染色体异常(3例,10.7%)或单基因遗传综合征(3例,10.7%)、脑积水或脑白质软化(4例,14.2%)、胼胝体发育不全伴中线囊肿(1例,3.6%)、良性蛛网膜下腔增宽(1例,3.6%)、多发畸形(1例,3.6%)。在15例脑皮质发育畸形胎儿中,无脑回/巨脑回畸形最常见,其次是脑裂畸形、严重小头畸形、半侧巨脑畸形伴脑室旁灰质异位、多小脑回。28例外侧裂异常的胎儿中23例为双侧外侧裂异常,5例为单侧外侧裂异常。根据其在丘脑横切面上的超声图像特征分为6型:无平台型、小平台型、直线型、不规则波浪状型、Z字型、囊肿占位型。除外侧裂异常外,所有胎儿均合并其他异常或轻微变异。17例胎儿行宫内MRI检查,13例行产后影像学检查。25例引产;3例活产,其中2例出现典型的综合征改变且神经发育学预后差。57.1%(16/28,95%CI=37.6%~76.7%)胎儿获得阳性遗传学诊断,单核苷酸变异发生率为42.9%(12/28),其中新发突变占91.7%(11/12)。结论基于丘脑横切面进行胎儿外侧裂异常形态学分类可行。胎儿外侧裂异常可能与脑皮质发育畸形相关,也提示某些可导致神经发育预后不良的染色体异常或单基因遗传综合征,且受皮层外因素影响。建议对外侧裂异常胎儿进行针对性的产前遗传学诊断。Objective To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF),and to explore the value of whole-genome sequencing(WGS)in prenatal detection.Methods A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included.The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail.Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS.Pregnancy outcomes and postnatal MRI were recorded,and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results During the study period,28 fetuses with abnormal SF were identified,with a gestational age of 21.3-30.0(24.8±2.0)weeks.Abnormal SF presented in MCD(n=15,53.6%),chromosomal anomalies(n=3,10.7%)or single-gene genetic syndromes(n=3,10.7%)with the affected fetuses showing developmental delay,hydrocephalus or leukomalacia(n=4,14.2%),corpus callosal agenesis with large interhemispheric cysts(n=1,3.6%),benign subarachnoid space enlargement with arachnoid cysts(n=1,3.6%),and multiple malformations(n=1,3.6%).Among the 15 cases with MCD,the most common pathology was lissencephaly/pachygyria,followed by schizencephaly,severe microcephaly,hemimegalencephaly with paraventricular heterotopia,and polymicrogyria.Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5.All cases were categorized into six types depending on SF morphology in the transthalamic section:no plateau-like or a small insula,linear type,irregular corrugated SF,Z-shaped,and cyst occupying type.In addition to abnormal SF,associated anomalies or mild variations were identified in all fetuses.There were 17 cases underwent intrauterine MRI,and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated;3 were born alive,and 2 had typical syndromic changes with poo

关 键 词：超声检查 产前 胎儿 外侧裂 脑皮质发育畸形 全基因组测序 

分 类 号：R714.5[医药卫生—妇产科学] R445[医药卫生—临床医学]