胎儿脉络丛囊肿与染色体异常的相关性分析

Analysis on the correlation between fetal choroid plexus cyst and chromosomal anomalies

目的：分析胎儿脉络丛囊肿（CPC）与染色体异常之间的相关性。方法：对2008~2009年间9 833例孕妇行超声检查,发现胎儿脉络丛囊肿166例（1.69%）,其中87例行染色体检查,其余随访至分娩后。结果：166例脉络丛囊肿胎儿中,92例为单侧性（55.42%）,74例为双侧性（44.58%）;合并其他超声异常40例（24.10%）,其中胎儿结构畸形7例,其他超声软指标25例,其他超声异常10例;发现染色体异常5例,均为18-三体;大部分脉络丛囊肿于孕28周前消失。结论：胎儿脉络丛囊肿一般于中孕期作出超声诊断,主要与18-三体有关。胎儿单纯脉络丛囊肿预后良好,若合并其他高危因素,如胎儿结构畸形、母亲高龄、双侧多发脉络丛囊肿、其他超声软指标等,则染色体异常风险明显增加,应行羊膜腔或脐血穿刺术以明确染色体核型。

Objective：To analyze the correlation between fetal choroid plexus cyst（CPC） and chromosomal anomalies.Methods：9 833 pregnant women received ultrasonography from 2008 to 2009,166 pregnant women were found with fetal CPC,accounting for 1.69%,87 pregnant women received chromosomal examination,the other pregnant women were followed up until delivery.Results：Among 166 cases with fetal CPC,92 cases（55.42%） were found with unilateral cysts and 92 cases（44.58%） were found with bilateral cysts;40 cases（24.10%） combined with other ultrasonic abnormalities,including 7 cases with fetal structural abnormality,25 cases with other ultrasonic soft indexes and 10 cases with other ultrasonic abnormalities;5 cases were found with chromosomal anomalies（trisomy 18）;most of the cysts disappeared before 28 gestational weeks.Conclusion：Fetal CPC can be diagnosed by ultrasonography during the second trimester of pregnancy,which is mainly related to trisomy 18.The prognosis of simple fetal CPC is good,but the risk of chromosomal anomalies increases obviously when the cases are combined with other high risk factors,such as fetal structural abnormality,elderly mothers,bilateral and multiple cysts and other ultrasonic soft indexes;amniocentesis or umbilical cord blood puncture should be conducted to determine the chromosomal genotypes.