胎儿脉络丛囊肿的产前诊断及处理

Prenatal diagnosis and treatment of fetal choroid plexus cysts

目的探讨胎儿脉络丛囊肿产前诊断的临床意义及处理原则。方法对我院2004年5月至2007年3月孕中期经 B 超诊断的55例胎儿脉络丛囊肿孕妇纳入研究,分别进行孕期胎儿染色体核型检查、B 超观察囊肿变化及消失时间、随访母儿结局。结果 55例胎儿脉络丛囊肿均在孕16～25周经 B 超诊断,囊肿直径0.2～2.4 cm,双侧25例、单侧30例;孤立性脉络丛囊肿50例、复杂性脉络丛囊肿5例。除5例引产外,44例囊肿在孕26周前消失,孕28周前全部消失。在50例胎儿染色体核型检查中,诊断18三体2例,21三体1例,5例未查染色体核型的胎儿出生后身体检查及随访1年未见异常。5例因伴发胎儿结构或染色体异常行中期引产,1例产后随访发现新生儿心脏室间隔缺损。此6例中,3例为高龄孕妇、5例合并胎儿结构畸形、5例为双侧或单侧脉络丛囊肿直径>1.0 cm。结论 (1)胎儿脉络丛囊肿可在孕中期经 B 超诊断,多在孕28周前自行消失。(2)孕妇高龄、合并胎儿超声结构异常及双侧或单侧脉络丛囊肿直径>1.0 cm,为染色体异常的高危因素,建议行胎儿染色体核型检查。

Objective To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts （CPC）. Methods From May 2004 to March 2007, 55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied. Each case was studied regarding fetal chromosome karyotype, disappearance weeks of the cyst, the clinical outcome and follow-up results respectively. Result The cases were diagnosed during 16-25 gestational weeks. The diameters of the cysts varied from 0. 2 cm to 2.4 cm. There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC . The cysts of all cases who continued pregnancy disappeared before 28 weeks. Fetal chromosome karyotypes were obtained in 50 cases. Among them, two cases were 18-trisomy, and one case was 21-trisomy. Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester. One neonate was diagnosed as ventricular septal defect among 50 cases of follow up. Among these six cases, three were from advanced-age pregnant women, five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm. Conclusion （ 1 ） Fetal CPC can be diagnosed during second trimester, and the majority disappear before 28 gestational weeks. （2） High risk factors for fetal abnormal chromosome karyotype may be： advanced-age pregnant women, abnormal structure of fetus, and the diameter of bilateral or unilateral cyst more than 1.0 cm. It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.