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 .
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