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目的探讨荧光原位杂交(FISH)技术和绒毛染色体核型分析技术在产前诊断中的应用价值。方法抽取384例孕8～12周的孕妇绒毛,同时将绒毛标本进行FISH检测和绒毛染色体核型分析。结果 384例绒毛标本FISH检测均得出结果,检测成功率为100%。FISH检测共检出54例阳性结果,异常核型检出率为14.1%。384例绒毛染色体核型分析中364例检测出结果,12例污染,8例无原因细胞不贴壁生长,检测成功率为94.8%。364例检出结果中异常核型检出59例,异常核型检出率为15.4%。结论 FISH检测绒毛标本具有快速、简便等优势,但只能检出非整倍体和嵌合体,应用具有一定的局限性。常规绒毛染色体核型分析操作技术要求高,培养时间长,但是绒毛染色体核型分析即能检出染色体的非整倍体又能检出染色体结构畸变。二者有机结合相互补充能够更好的服务于产前诊断。
Objective To investigate the value of fluorescence in situ hybridization (FISH) and chorionic karyotype analysis in prenatal diagnosis. Methods 384 pregnant women with gestational age of 8 to 12 weeks were enrolled in the study. Fluff samples were analyzed by FISH and karyotype analysis. Results 384 cases of villi specimens FISH test results were obtained, the detection success rate was 100%. FISH test detected a total of 54 cases of positive results, the detection rate of abnormal karyotype was 14.1%. Of the 384 chorionic karyotypes, 364 were detected, 12 were contaminated, and 8 were non-adherent. The detection success rate was 94.8%. Among the 364 detected cases, 59 cases were detected abnormal karyotypes, the detection rate of abnormal karyotype was 15.4%. Conclusion FISH detection of villus specimens has the advantages of fast, simple and convenient, but can only detect aneuploidy and chimerism, the application has some limitations. Chromosome karyotype analysis of conventional techniques require high technical knowledge and culture for a long time, but the chorionic karyotype analysis that can detect chromosome aneuploidy can detect chromosomal structural aberrations. The combination of the two can complement each other to better serve the prenatal diagnosis.