早孕期规范化超声检查在胎儿前脑无裂畸形中的应用价值  

The application value of standardized ultrasonography for fetal holoprosencephaly in the first trimester

作　　者：邓凤莲 卢岷 刘可[1] 张鹭[1] 陈秋玲 黄妍卓 严思静[1] 谢昭鹏[1] DENG Feng-lian;LU Min;LIU Ke;ZHANG Lu;CHEN Qiu-ling;HUANG Yan-zhuo;YAN Si-jing;XIE Zhao-peng(Department of Ultrasound,Chongqing Traditional Chinses Medicine Hospital,Chongqing 400021,China)

机构地区：[1]重庆市中医院超声科,重庆400021

出　　处：《中国临床医学影像杂志》2021年第4期285-287,290,共4页Journal of China Clinic Medical Imaging

基　　金：“十二五”国家科技支撑计划(2014BA106B05)。

摘　　要：目的:探讨早孕期规范化超声检查在诊断胎儿前脑无裂畸形(HPE)中的临床价值。方法:选取2015年6月—2020年6月在我院进行早孕期规范化超声检查的孕妇中,经超声检查诊断为HPE的胎儿共19例为研究对象。进行常规产前超声检查,测量胎儿头臀长及颈项透明层(NT)厚度,并依次观察胎儿主要形态结构,重点观察胎儿颅脑及面部结构。对检出的HPE胎儿、追踪妊娠过程及临床结局。结果:19例HPE胎儿超声诊断无叶型13例,半叶型6例。无叶型HPE颅脑横切面示头呈圆形,脑中线显示不清,单一脑室,丘脑融合,脉络丛"蝴蝶征"消失。半叶型HPE脑中线部分显示不清,脉络丛"蝴蝶征"消失,丘脑融合或不融合。HPE胎儿常合并颜面部畸形、先天性心脏病、双上肢姿势异常、NT增厚、单脐动脉等其他结构的异常。HPE胎儿常伴有染色体异常,以13-三体综合征最常见。结论:早孕期规范化超声检查可有效筛查胎儿HPE,做到早发现、早干预,降低缺陷儿出生率,对提高我国优生优育水平具有重要意义。Objective:To evaluate the clinical value of standardized ultrasonography in the diagnosis of fetal holoprosencephaly(HPE).Methods:A total of 19 cases of fetus with HPE,diagnosed by ultrasound,were enrolled from June 2015 to June 2020 in our hospital.Routine prenatal ultrasound examination was conducted to measure the length of fetal head and hip and the thickness of transparent layer of the neck,and to observe the main morphological structures of the fetus in turn,especially the craniocerebral and facial structures of the fetus.The pregnancy process and clinical outcome of HPE fetuses were tracked.Results:Nineteen HPE fetuses were single pregnancy,18 were live,and 1 had died in utero.Ultrasonography diagnosed 13 cases without lobular HPE and 6 cases with semi-lobular HPE.The transverse section of the brain without leaf type HPE shows a round head,the brain line is not clear,single ventricle,thalamus fusion,choroid plexus"butterfly sign"disappeared.The cerebral line of hemiphyllobular HPE is unclear,choroid plexus"butterfly sign"disappears,thalamus fusion or not fusion.HPE fetuses are often associated with facial malformations,congenital heart disease,abnormal posture of both upper limbs,NT thickening,monomphalic artery and other structural abnormalities.Chromosomal abnormalities are common in HPE fetuses,with trisomy 13 syndrome being the most common.Conclusion:Standardized ultrasound examination in early pregnancy can effectively screen fetal HPE,achieve early detection and early intervention,reduce the birth rate of defective children,and is of great significance to improve the level of eugenics and eugenics in China.

关 键 词：前脑无裂畸形 胎儿 超声检查 产前 

分 类 号：R[医药卫生] R