摘要
目的探讨产前超声检查对胎儿前脑无裂畸形(holoprosencephaly,HPE)的诊断价值。方法收集我院诊断胎儿前脑无裂畸形的超声图像并进行相关分析。结果 36例HPE胎儿中,叶状型8例,产前超声表现为透明隔腔消失,侧脑室前角融;半叶型6例,产前超声表现为单一脑室,丘脑发生部分融合,部分脑中线消失;无叶型22例,产前超声表现为单一脑室,丘脑相互融合,脑中线结构消失。36例HPE胎儿中合并单发或者多发畸形30例,其中24例颜面部畸形,9例心脏畸形,7例肢体异常,5例单脐动脉,5例肾脏异常,4例羊水过多,3例羊水过少,3例全身水肿,3例胃泡显示不清,2例脊柱裂,2例脐带囊肿。36例中12例行染色体核型分析检查,检查结果为13-三体3例,18-三体2例,染色体部分缺失1例,其余6例染色体核型正常。结论产前超声检查对胎儿前脑无裂畸形具有较高的诊断价值,能够降低有严重缺陷的患儿的出生率,具有重要的临床诊断意义。
Objective To investigate diagnostic value of prenatal ultrasound examination in fetal holoprosencephaly（HPE）.Methods We collected ultrasonic imaging data from fetal HPE in our hospital to conduct relative analysis.Results Of the 36 fetuses with HPE,there were 8cases diagnosed as lobar-type HPE that the cavity of septum pellucidum disappeared and the anterior horn of lateral ventricle fused shown by ultrasonic imaging,6cases as semilobar-type HPE identified with the sign of single ventricle,fusion of partial thalamus and vanishing of sectional brain midline,and 22 cases as alobar-type HPE that only one ventricle existed,thalamus completely fused and the brain midline drastically disappeared.30 cases concomitant with single or multiple malformations revealed by the imaging data of 36 fetuses,24cases were accompanied with facial dysmorphisms,9with cardiovascular malformations,7with limbs abnormality,5with single umbilical artery,5with kidney malformations,4with polyhydramnios,3with oligohydramnios,3with subcutaneous edema,3with absence of stomach,2with spina bifida,2with umbilical cord cyst.Additional,the results of karyotype analysis in 12 cases showed that 3cases were 13？trisomy,2cases 18-trisomy,1partial deletion of chromosome and 6normal.Conclusion Prenatal ultrasound exerts significant clinical effect on HPE resulting from its higher diagnostic value and effective reduction of the birth rate of defective fetus.
出处
《中国实用神经疾病杂志》
2016年第4期1-3,共3页
Chinese Journal of Practical Nervous Diseases
基金
河南省教育厅科学技术研究重点项目资助计划(编号:14A320025)
关键词
产前超声检查
前脑无裂畸形
缺陷胎儿
Prenatal ultrasonography
Holoprosencephaly
Defective fetus
