染色体微阵列分析在脉络丛囊肿胎儿诊断中的应用

Application of chromosomal microarray analysis for fetuses with choroid plexus cysts

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。

Objective 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.