胎儿前脑无裂畸形产前诊断分析  

Prenatal diagnostic analysis of fetal holoprosencephaly

作　　者：凌晨[1] 邓学东[1] 陆伟[1] 唐亚奇[1] 刘一琳[2] 王挺[2] 

机构地区：[1]南京医科大学附属苏州医院苏州市立医院超声中心,215002 [2]南京医科大学附属苏州医院苏州市立医院生殖与遗传中心,215002

出　　处：《中华医学超声杂志（电子版）》2012年第7期25-28,共4页Chinese Journal of Medical Ultrasound(Electronic Edition)

摘　　要：目的总结胎儿前脑无裂畸形(HPE)的产前超声图像特征。方法对32例产前超声检出并经引产证实为前脑无裂畸形胎儿的超声影像表现、分型特征及染色体检查结果进行总结分析。结果 32例前脑无裂畸形胎儿中无叶前脑无裂畸形19例,产前超声表现为单一脑室腔,丘脑融合,脑中线结构缺如;半叶前脑无裂畸形5例,产前超声表现为单一脑室腔,丘脑部分融合,脑中线结构部分缺如;叶状前脑无裂畸形8例,产前超声表现为无透明隔腔,侧脑室前角融合。32例前脑无裂畸形胎儿中合并单发或多发畸形,其中颜面部畸形17例,心脏畸形7例,脊柱裂2例,肾脏异常5例,腹裂2例,脐膨出1例,胸腔或腹腔积液2例,全身水肿2例,单脐动脉3例,脐带囊肿1例,宫内缺氧1例,羊水过多2例。1例胎儿肢体异常(多指和趾畸形)。32例中4例(均为单胎)行染色体核型分析检查,结果2例为13-三体,1例为三倍体,1例染色体核型分析正常。结论产前超声检查在胎儿前脑无裂畸形诊断中作用卓著,联合相应染色体检查可进一步提高诊断有效性和准确性。Objective To summarize the prenatal ultrasound diagnosis of fetal holoprosencephaly （ HPE） . Methods A total of 32 fetuses diagnosed as holoprosencephaly from 2010 to 2011 in our hospital were taken retrospectively analysis by sonographic features,typing characteristics and chromosomal analysis results. Results Among the 32 fetuses,19 cases were diagnosed as alobar HPE,5 cases as semilobar HPE, and 8 as lobar HPE. The characteristic ultrasound findings in alobar HPE were related to the single primitive ventricle,fused thalami,and absence of midline structures; semilobar HPE were related to the single primitive ventricle,partial fused thalami,and partial absence of midline structures; and lobar HPE were related to the absence of septum pellucidum cavity,and fused lateral ventricle anterior horn. There were 17 cases combined with other craniofacial malformations,7 with cardiovascular malformations,2 with spina bifida,5 with kidney malformations,2 with gastroschisis,1 with acromphalus,2 with pleural and / or peritoneal effusion,2 with subcutaneous edema,3 with single umbilical artery,1 with umbilical cord cyst,1 with intrauterine hypoxia, 2 with polyhydramnios,and 1 with multi-finger / toe deformity. Four karyotype analysis resulted in 2 Trisomy 13,1 Triploid,and 1 normal. Conclusion Ultrasonography plays an important role in prenatal diagnosis of fetal HPE,and the effectivity and accuracy can be improved by combining with chromosomal examination.

关 键 词：超声检查 产前 胎儿 前脑无裂畸形 染色体 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]