胎儿脉络丛囊肿产前诊断及临床意义  

Prenatal diagnosis and clinical significance of fetal choroid plexus cysts

作　　者：霍平[1] 高健[1] 李亚丽[1] 楚伟[1] 王方娜[1] 郭文潮[1] 戎立敏[1] 冉战玲[1] 马丽爽[1] 李娟[1] 

机构地区：[1]河北省人民医院,河北石家庄050051

出　　处：《中国妇幼保健》2014年第1期119-121,共3页Maternal and Child Health Care of China

基　　金：河北省科技计划重点项目〔11276102D〕

摘　　要：目的:探讨脉络丛囊肿胎儿的产前诊断结果及临床意义,为临床遗传咨询提供依据。方法:对272例脉络丛囊肿胎儿行产前诊断核型分析,并定期超声复查胎儿发育情况,电话随访妊娠结局及胎儿出生后生长发育状况。结果:272例脉络丛囊肿胎儿中染色体核型异常者19例,占6.98%(非整倍体13例,占4.78%)。140例单侧脉络丛囊肿胎儿中,染色体异常5例,占3.57%,132例双侧脉络丛囊肿胎儿中染色体异常14例,占10.61%。145例孤立性脉络丛囊肿胎儿中染色体异常5例,占3.45%;127例复杂性脉络丛囊肿胎儿中染色体异常14例,占11.02%,其中脉络丛囊肿合并超声结构异常的15例胎儿中染色体异常5例(33.33%),合并染色体异常软标记的112例中染色体异常9例(8.03%)。成功随访233例,其中终止妊娠19例,活产214例;214例活产儿中3例生后出现生长发育异常或窒息死亡,其余211例产后生长发育未见明显异常。结论:染色体异常是导致胎儿脉络丛囊肿的重要原因;脉络丛囊肿不伴有超声结构严重异常并排除染色体畸变时大多数胎儿预后良好;脉络丛囊肿合并超声结构异常时,染色体畸变的几率明显增加。超声发现胎儿脉络丛囊肿时,应仔细扫查胎儿其他部位有无结构异常,并进行产前诊断染色体核型分析,避免严重缺陷儿出生。Objective： To study the prenatal diagnosis results and clinical significance of fetal choroid plexus cysts, and provide basis for clinical genetic counseling. Methods ： 272 cases of ehoroid plexus cysts were analyzed for prenatal diagnosis of karyotype, and give regular ultrasound examination of fetal development, telephone follow - up outcome of pregnancy and fetal postnatal condition. Results ： In 272 cases of choroid plexus cysts fetal, there were 19 abnormal chromosome karyotype, accounted for 6. 98% （ 13 non euploid karyotyp, ac- counted for 4. 78% ） . 5 cases chromosome abnormality in 140 cases of unilateral choroid plexus cysts, accounting for 3.57% , 14 cases of chromosomal abnormalities in 132 cases of bilateral choroid plexus cysts fetal, accounted for 10. 61%. 5 cases chromosome abnormality in 51 cases of isolated choroid plexus cysts, accounting for 3.45% ; 14 cases chromosome abnormality in 127 cases were not isolated fetal choroid plexus cysts, accounting for 11.02% , threr were 5 cases （33.33 % ） chromosome abnormality in the 15 cases of choroid plexus cysts associ- ated with ultrasonic structural abnormalities, and 9 cases （8.03%） chromosome abnormality in 112 cases associated with soft marker chro- mosome abnormality. Successfully follow -up was in 233 cases, 19 cases of pregnancy termination, live births in 214 cases. In these 214 live births there were 3 cases after birth growth abnormalities or choked to death, the remaining 211 cases of postpartum growth had no obvi- ous abnormalities. Conclusion： Chromosome abnormality is an important cause of fetal choroid plexus cysts. Fetal choroid plexus cysts is not accompanied by other serious structural anomalies and the exclusion of chromosome aberration when most of the fetal prognosis is good. Choroid plexus cysts associated with abnormalities, probability of chromosome aberration is increased significantly, when we find fetal choroid plexus cysts, we should carefully scan other parts of fetus if has structural abnormalities, an

关 键 词：脉络丛囊肿 产前诊断 超声检查 染色体 

分 类 号：R714.5[医药卫生—妇产科学]