摘要目的:探讨染色体微阵列分析(chromosome microarray analysis，CMA)对脉络丛囊肿(choroid plexus cysts，CPC)胎儿的检测价值。方法:对104例CPC胎儿进行羊水染色体核型分析，同时用CMA检测其染色体拷贝数变异(copy number variations，CNVs)的情况。结果:共检出10例(9.62%)核型异常胎儿，在核型未见异常的胎儿中额外检出14例CNVs。根据是否合并其他超声异常，将胎儿分为孤立CPC组( n＝87)与非孤立CPC组( n＝17)，两组的核型异常率分别为4.6%和35.3%，CMA异常率分别为4.6%和47.1%，非孤立组的核型异常率与CMA异常率均显著高于孤立组( P<0.05)。非孤立组的CMA异常率显著高于核型异常率( P<0.05)。在CMA异常的8例胎儿中，有4例合并单脐动脉，3例合并心脏结构异常，2例合并肠道强回声。 结论:CPC与染色体异常密切相关，核型分析联合CMA能够有效检出胎儿的基因组拷贝数异常，为产前咨询提供重要的依据。

abstractsObjective:To assess the value of chromosomal microarray analysis (CMA) for fetuses with choroid plexus cysts (CPC) detected by prenatal ultrasonography.Methods:Amniotic fluid chromosomal karyotype was analyzed in 104 fetuses with CPC, and copy number variations (CNVs) among the fetuses were detected by using CMA.Results:Ten fetuses (9.62%) were found to have an abnormal karyotype, and 14 additional CNVs were detected in those with a normal karyotype. The fetuses were divided into isolated CPC group ( n=87) and non-isolated CPC group ( n=17) based on the presence of additional ultrasonographic abnormalities. The detection rates for karyotypic abnormalities of the two groups were 4.6% and 35.3%, respectively, whilst those for the CMA were 4.6% and 47.1%, respectively. The detection rates for karyotypic abnormalities and CMA of the non-isolated CPC group were significantly higher than those of the isolated CPC group ( P<0.05). The detection rate for CMA in the non-isolated group was significantly higher than chromosomal karyotype abnormalities ( P<0.05). Among the 8 fetuses with abnormal CMA, 4 had single umbilical artery, 3 had abnormal cardiac structure, and 2 had enhanced intestinal echo. Conclusion:CPC is closely associated with chromosomal abnormalities. Chromosome karyotype analysis in combination with CMA can effectively detect fetal chromosomal abnormalities and provide a basis for genetic counseling.