胎儿脉络丛囊肿的产前诊断及预后评估

Prenatal Diagnosis of Fetal Choroid Plexus Cysts

胎儿脉络丛囊肿（choroid plexuscysts，CPCs）是一种常见的胎儿中枢神经系统异常，其发病率达1％～4％．通过妊娠早中期的产前超声检查可诊断。CPCs可能和胎儿的某些染色体和神经系统异常有关，尤其是18三体综合征和Aicardi综合征。大量研究表明，这种相关性还受到许多其他因素的影响，故临床医师发现CPCs时需考虑到胎儿是否合并其他畸形或异常，联合妊娠期母亲血清筛查风险性结果以及CPCs的特点等因素，对妊娠妇女进行个体化的风险评估，并予以恰当的处理。

Fetal choroid plexus cysts （CPCs） are a common central nervous system malformation, with 1%- 4% of all fetus suffering. They can be diagnosed by routine ultrasound examination during the first or second trimester pregnancy ,and be associated with fetal chromosomal abnormalities and nervous system abnormalities especially with regard to trisomy 18 and Aicardi syndrome. This association is also influenced by many factors. So physicians should consider these factors first, such as isolated CPCs or CPCs associated with other fetal abnormalities, the risk of trisomy based on mother＇s serum screening, the characteristics of CPCs and so on. Then, physicians can predict the individual risk and provide accurate genetic counseling.