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目的探讨胎儿胼胝体发育不全的超声表现,及其合并其它异常及染色体异常的相关性。方法总结2005年4月至2008年3月在中山大学附属第一医院接受产前胎儿系统超声筛查15550例,发现胎儿胼胝体发育不全共46例,分析胼胝体发育不全合并畸形类型、与染色体异常的相关性及妊娠结局。结果46例胎儿胼胝体发育不全中,单纯性胼胝体缺失17例(37.0%),合并其他部位畸形29例(63.0%),其中19例(65.5%)为2种及2种以上畸形,以合并中枢神经系统异常(18例,62.1%)为主。23例(50.0%)接受胎儿染色体检查,3例(13.0%)合并染色体异常病例均合并畸形,1例13-三体综合征,1例18-三体综合征,1例罗伯逊易位[45,XX,der(14:22)(q10:q10)]。分娩足月儿6例,最大者已2岁8个月,3例幼儿运动及认知能力低于同龄儿童。结论胎儿胼胝体发育不全是特征性超声改变,了解胼胝体发育的规律,及时识别发育异常的特征性改变,可提高产前诊断率,胼胝体发育不全以合并中枢神经系统病变最为常见,合并畸形时染色体异常的可能性较大;胼胝体发育不全幼儿早期即可出现精神、运动发育迟缓。
Objective To investigate the sonographic manifestations of fetal corpus callosum hypoplasia and its association with other abnormalities and chromosomal abnormalities. Methods From April 2005 to March 2008, the First Affiliated Hospital of Sun Yat-sen University received 15,550 ultrasound screening of prenatal fetal system and found that the fetal corpus callosum hypoplasia in 46 cases, analysis of corpus callosum hypoplasia with deformity type, and chromosomal abnormalities Correlation and pregnancy outcome. Results In 46 cases of fetal corpus callosum hypoplasia, 17 cases (37.0%) had simple corpus callosum deletion and 29 cases (63.0%) had malformations of other parts, of which 19 cases (65.5%) had 2 or more deformities, Nervous system abnormalities (18 cases, 62.1%) dominated. Twenty-three patients (50.0%) underwent fetal chromosomal examinations. Three patients (13.0%) with chromosomal abnormalities were associated with deformity, one with trisomy 13, one with trisomy 18 and one with Robertson’s translocation , XX, der (14:22) (q10: q10)]. Childbirth full-term children in 6 cases, the largest have 2 years and 8 months, 3 cases of young children with exercise and cognitive ability than children of the same age. Conclusions Fetal corpus callosum hypoplasia is a characteristic ultrasound change. Understanding the law of the development of the corpus callosum and recognizing the characteristic changes of dysplasia in time can increase the rate of prenatal diagnosis. The corpus callosum hypoplasia is most common in patients with central nervous system diseases. Chromosomal abnormalities The possibility of greater; early age of corpus callosum hypoplasia can occur in the spirit of motor retardation.