用荧光原位杂交技术快速诊断孕早期胚胎染色体数目异常

目的探讨荧光原位杂交(FISH)技术在快速产前诊断孕早期胚胎染色体数目异常中的价值.方法采用13,18,21,X和Y染色体特异性DNA探针,对46例孕47～65 d高危孕妇的绒毛间期细胞进行FISH检测,同时行常规染色体核型分析平行诊断.结果与染色体核型分析结果一致的染色体数目正常43例,异常3例(47,XY 21;47,XY 18和45,X).3例异常核型胚胎经治疗性流产后再分别对其绒毛行常规染色体核型分析,结果与产前诊断相符.结论FISH技术用于产前诊断孕早期胚胎染色体数目异常具有快速、准确等优点.

Rapid diagnosis of chromosomes abnormalities in early embryos by fluorescence in situ hybridization technique

Objective: To investigate the clinical value of fluorescence in situ hybridization (FISH) in chromosomes abnormalities of early embryos for rapid prenatal diagnosis. Methods: Using chromosome-specific DNA probes of 13, 18, 21, X and Y, the chorionic villi from 46 pregnant women with high risk factors were detected by FISH. The routine analysis of amniotic cells karyotypes served as parallel diagnosis was performed at same time. Results: Normal chromosomes were found in 43 cases and abnormal chromosomes (47, XY 21; 47, XY 18and 45, X) were detected in 3 cases by FISH. These results were almost as same as those obtained by routine analysis of chromosome karyotypes. The chorionic villi was performed routine analysis of chromosome karyotypes after 3 embryos with abnormal chromosome karyotypes had been selected to abortion, which was consistent with the conclusion of prenatal diagnosis. Conclusion: FISH technique applied in prenatal diagnosis of early embryo chromosomes abnormalities is rapid and accurate.