染色体微阵列分析在胎儿侧脑室增宽中的应用价值

Chromosome microarray analysis for fetuses with ventriculomegaly

目的探讨染色体微阵列分析技术(CMA)在检测侧脑室增宽胎儿染色体异常中的应用价值。方法收集2015年5月至2017年12月与深圳市妇幼保健院产前诊断中心就诊的50例经产前超声诊断为胎儿侧脑室增宽的患者临床资料进行回顾性分析。比较常规染色体核型分析技术和CMA技术在侧脑室增宽胎儿中染色体异常的检出率。结果 50例侧脑室增宽胎儿中,经染色体核型分析技术共检出6例异常结果,异常检出率为12%;经CMA技术共检出12例异常结果,包括全部6例染色体核型分析检出的异常结果,异常检出率为24%。经统计学分析(χ~2检验)提示,两种技术的异常检出率存在统计学差异,P=0.031。结论与常规染色体核型分析相比,染色体微阵列分析技术能够提高侧脑室增宽胎儿染色体异常的检出率,能够为侧脑室增宽胎儿的产前遗传咨询和预后评估提供更精确更全面的遗传学信息。

Objective:To investigate the clinical value of Chromosome microarray analysis used in fetuses with ventriculomegaly. Methods:Fifties fetuses who were diagnosed with ventriculomegaly by ultrasound were collected for retrospective analysis. Compare the detection rate of the chromosomal abnormality between karyotyping and chromosome microarray analysis. Results:Six abnormal results(12%)were dected by routine karyotype analysis and twelve abnormal results(24%)including Six abnormal results dected by routine karyotype analysis were dected by chromosome microarray analysis. Significant difference(P=0.031)was found in two groups by using χ~2 test. Conclusion:Compared with routine karyotype analysis,the chromosome microarray analysis can increase the abnormal detection rate of chromosomal abnormality and provide more genetic information to genetic counseling and prognostic evaluation for fetuses with ventriculomegaly.