胎儿胼胝体发育不全与合并其他异常的相关性  

Prenatal diagnosis of fetal agenesis of corpus callosum and its association with other abnormalities

作　　者：杨杰[1] 谢红宁[1] 何花[1] 李丽娟[1] 朱云晓[1] 

机构地区：[1]中山大学附属第一医院妇产超声科,广东广州510080

出　　处：《中国实用妇科与产科杂志》2009年第1期37-39,共3页Chinese Journal of Practical Gynecology and Obstetrics

基　　金：广东省教育部产学研合作项目(2007B090400140)

摘　　要：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 analyze the prenatal diagnosed fetal agenesis of corpus callosum （ACC） and its association with other malformations and chromosomal abnormality. Methods From Apr 2005 to Mar 2008, 46 pregnant women were prenataly diagnosed with fetal ACC in the First Affiliated Hospital of Sun Yat-Sen University, which were analyzed to investigate the correlation between ACC and chromosomal abnormality, and related accompanied abnormalities and its prognosis. Results Seventeen （ 37.0% ） of 46 cases were isolated ACC and 29 （63.0%） were accompanied with other malformations, with 19 （65.5%） presented with two or more malformations. Central nervous system abnormality was the most common accompanied malformations （62. 1% ）. Fetal chromosomal karyotype was examined in 23 cases and 3 of them wereabnormal karyotype, including trisomy 18, trisomy 13 and Robertsonian translocation, respectively. Six fetuses were term born, and the oldest one was 2. 6 years old up to now. Three of them appeared mental retardation and behavioral problems. Conclusion Fetal ACC is often associated with other malformations, especially with central nervous system abnormalities. In addition, the incidence of chromosomal ＇abnormality increases when ACC is accompanied with other anomalies. Infants with ACC may show up mental and behavioral retardation.

关 键 词：胼胝体发育不全 胎儿 超声 染色体异常 

分 类 号：R71[医药卫生—妇产科学]