定量荧光聚合酶链反应和染色体微阵列分析技术在性染色体嵌合体产前诊断中的应用

Application of quantitative PCR and chromosome microarray analysis in prenatal diagnosis of sex chromosome mosaicism

目的评价定量荧光聚合酶链反应(OF-PCR)技术和染色体微阵列分析技术(CMA)在性染色体嵌合体产前诊断中的应用价值。方法选取2017-2020年于广东省妇幼保健院进行QF-PCR检测后提示不排除性染色体嵌合体产前诊断样本15例进行CMA及染色体核型分析,比较并分析3种方法的结果一致性。结果 15例QF-PCR提示不排除性染色体嵌合体样本中,CMA共检出正常1例,性染色体嵌合9例,性染色体嵌合缺失或重复5例。染色体核型分析结果显示45,X/46,XX嵌合4例,45,X/46,XY嵌合3例,其他异常性染色体核型嵌合8例。结论 QF-PCR可快速提示部分性染色体嵌合体,缓解患者的焦虑,但存在误诊的可能性。CMA技术在性染色体嵌合体产前诊断中具有优势。对于胎儿产前诊断检出性染色体嵌合体时,建议结合CMA技术、染色体核型分析技术等结果进行分析,从而更准确地进行临床产前咨询。

Objective Evaluate the value of fluorescence quantitative polymerase chain reaction(QF-PCR) and CMA chromosome microarray analysis in prenatal diagnosis of sex chromosome mosaicism. Methods A total of 15 samples of sex chromosome mosaicism patients were recruited from the QF-PCR test in our center from 2017 to 2020, CMA and chromosome karyotype were used for the further analysis, and the results of the three methods were compared. Results Among the 15 cases of QF-PCR, CMA was found to be normal in 1 case, sex chromosome mosaicism in 9 cases, sex chromosome mosaicism deletion or duplication in 5 cases, karyotype analysis results showed 45,X/46,XX in 4 cases, 45,X/46,XY in 3 cases, and other abnormal sex chromosome karyotypes in 8 cases. Conclusion QF-PCR can quickly indicate some sex chromosome mosaicism and relieve patients’ anxiety, but there is the possibility of misdiagnosis. CMA technology has an advantage in prenatal diagnosis of sex chromosome mosaicism. It is suggested to combine the results of CMA, and karyotyping for prenatal diagnosis of sex chromosome mosaicism, so as to carry out a better clinical prenatal consultation.