胎儿胼胝体发育不全的影像学诊断及其与染色体异常的关系  

Prenatal diagnosis of agenesis of corpus callosum and its relationship with fetal chromosomal abnormalities

作　　者：常清贤[1] 钟梅[1] 余艳红[1] 熊丽[1] 陈翠华[1] 陈耿[2] 李胜利[3] 宋兰林[1] 

机构地区：[1]南方医科大学南方医院妇产科,广州510515 [2]广州军区总医院妇产科 [3]深圳市妇幼保健院产科

出　　处：《中华妇产科杂志》2013年第11期810-814,共5页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的 探讨胎儿胼胝体发育不全（ACC）的影像学诊断及其与染色体异常的关系.方法 选择2007年3月至2012年11月在南方医科大学南方医院、广州军区总医院及深圳市妇幼保健院接受产前胎儿MRI检查、并诊断胎儿ACC的单胎孕妇40例.分析胎儿ACC与胎儿染色体异常的关系,观察ACC胎儿的超声影像学特点以及与MRI诊断的符合率.结果 （1）40例ACC胎儿中,单纯孤立性ACC 15例（38％,15/40）,非孤立性ACC 25例（63％,25/40）.25例非孤立性ACC中合并中枢神经系统发育异常18例（72％,18/25）,其中包括小脑蚓部发育不良、Dandy-walker综合征、小脑囊肿、叶状全前脑等;合并中枢神经系统以外畸形16例,主要包括5例心脏发育异常（20％,5/25）、3例颜面部发育异常（12％,3/25）、2例泌尿系统发育异常（8％,2/25）、1例四肢发育异常（4％,1/25）、其他占20％ （5/25）.（2）40例ACC胎儿中发现染色体多态性3例,其中包括2例46,XX,1qh＋和1例46,XY,13cenh＋;染色体数目异常4例,其中包括18三体1例,21三体1例,13三体1例,47,XYY 1例.（3）40例ACC胎儿超声检查结果与MRI诊断结果完全一致36例,符合率为90％ （36/40）;4例结果不一致.37例终止妊娠孕妇中,接受胎儿尸检28例,尸检结果与MRI诊断结果一致;对3例新生儿行MRI检查,证实产前MRI诊断正确.（4） 25例非孤立性ACC胎儿被终止妊娠,15例孤立型ACC胎儿中,12例选择终止妊娠,3例选择继续妊娠.3例继续妊娠孕妇中,足月分娩新生儿2例,早产1例.3例新生儿出生后均行MRI复查,证实产前MRI诊断正确,随访均未发现明显的生长发育及智能发育迟滞.结论 MRI对胎儿ACC的诊断,特别是合并颅内发育异常的非孤立性ACC有很高的临床诊断价值;超声检查的正确诊断率仅有90％的优势,可作为补充技术以明确ACC分类及分型.与孤立性ACC相比,非孤立性ACC合并染色体异常的可能性较大.Objectives To evaluate prenatal imaging diagnosis of agenesis of corpus callosum and to investigate the relationship between ACC and chromosomal abnormalities.Methods Forty singleton pregnancies diagnosed ACC prenatally in Southern Medical University,Nanfang Hospital,General Hospital of Guangzhou Military Command of PLA and Shenzhen Maternity and Children Health Care Hospital from 2007 to 2012 were recruited.The correlation between ACC and chromosomal abnormalities,the consistence of sonographic characteristics and MRI diagnosis were analyzed retrospectively.Results （1） Among the 40 cases,15 （38％,15/40） were diagnosed isolated ACC,while 25 （63％,25/40） were non-isolated ACC.In the non-isolated ACC cases,18 （72％） had central nervous system abnormalities,including cerebellar vermis hypoplasia,Dandy-Walker syndrome,cerebellar cyst,holoprosencephaly,etc.Extra-CNS abnormalities were identified in 16 cases,including 5 cardiac abnormalities,3 facial abnormalities,2 congenital anomalies of urinary system,1 limb skeletal abnormality and 5 other congenital anomalies.（2）In the 40 cases,3 were chromosomal polymorphisms,including 2 cases of 46,XX,1 qh ＋ and 1 case of 46,XY,13cenh ＋.Chromosomal abnormalities were identified in 4 cases,including trisomy1 3,trisomyl8,trisomy 21 and 47,XYY.（3） 36 cases （90％,36/40） diagnosed by ultrasound were consistent with MRI,while 4 cases were different with MRI.37 pregnancies were terminatied,in which 28 cases were confirmed by fetal autopsy.3 cases continued pregancy and ACC was confirmed by postnatal MRI.（4） 25 non-isolated ACC and 12 isolated ACC pregnancies were terminated.Among the 3 isolated ACC cases that continued pregnancy,2 were term delivery and 1 was premature dilivery.All of them were confirmed by postnatal MRI.No mental or growth retardation was found during follow-up.Conclusion MRI was prior to detect cases with nonisolated ACC and could be a supplementay method in the diagnosis and classification of ACC.Compared with isolated ACC,non

关 键 词：胼胝体发育不全 磁共振成像 染色体畸变 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]