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目的应用荧光原位杂交技术对血清标记物产前筛查异常的孕妇进行产前诊断。方法用荧光原位杂交技术对78例羊水间期细胞做检测,以羊水细胞培养及核型分析作为结果验证。结果共检出21-三体两例,超雄综合征(47,XYY)一例,47,XYY/46,XY嵌合体核型一例,与羊水细胞核型分析结果完全相符。结论 FISH技术便捷、灵敏、快速、准确,可应用于血清标记物产前筛查异常孕妇的产前诊断,能补充传统细胞遗传学的不足,保证诊断结果,减少孕妇的等待时间。
Objective To apply fluorescence in situ hybridization to prenatal diagnosis of prenatal screening abnormalities of serum markers in pregnant women. Methods 78 cases of amniotic fluid cells were detected by fluorescence in situ hybridization (FISH), and amniotic fluid cell culture and karyotype analysis were used to verify the results. RESULTS: Two cases of 21-trisomy, one case of super XY syndrome (47 XYY) and one case of XYY / 46, XY chimera were found, which were completely consistent with the karyotype analysis of amniotic fluid cells. Conclusion The FISH technique is convenient, sensitive, rapid and accurate and can be applied to the prenatal diagnosis of prenatal screening abnormal serum markers. It can supplement the deficiency of traditional cytogenetics, ensure the diagnostic results and reduce the waiting time of pregnant women.