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目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在产前诊断中的优缺点及临床应用价值。方法用FISH技术检测163例孕17-33周孕妇的未培养羊水细胞,每例均行常规染色体核型分析。结果应用FISH法,所有样本均在24h内获得检测结果,除4例羊水培养失败外,其余样本均在3周内获得细胞遗传学诊断。两种方法均检测出3例非整倍体,FISH结果与核型分析结果一致。9例染色体结构异常,FISH法未能检出。结论 FISH技术应用于产前诊断染色体非整倍体,成功率高,准确可靠,较常规核型分析方法有效缩短报告时间。FISH不能完全替代常规染色体核型分析,疑有染色体结构异常者,必须行羊水细胞染色体核型分析。母血清唐氏征筛查异常孕妇产前诊断倾向选择FISH检测。
Objective To explore the advantages and disadvantages of fluorescence in situ hybridization (FISH) in prenatal diagnosis and its clinical value. Methods FISH technique was used to detect the uncultured amniotic fluid cells of 163 pregnant women with gestational age from 17 to 33 weeks, and routine karyotype analysis was performed in each case. Results FISH method was used. All samples were tested within 24 hours. Except for 4 cases of amniotic fluid culture failure, other samples were obtained cytogenetic diagnosis in 3 weeks. Three methods were used to detect aneuploidy, and the result of FISH was consistent with that of karyotype analysis. 9 cases of chromosomal abnormalities, FISH failed to detect. Conclusion FISH technique is applied to the diagnosis of aneuploidy in prenatal diagnosis. The success rate is high, accurate and reliable, and the shortening of reporting time can be achieved compared with conventional karyotyping methods. FISH can not completely replace conventional chromosome karyotype analysis, suspected chromosomal abnormalities who must line amniotic fluid cell karyotype analysis. Maternal Serum Down Syndrome Abnormal Pregnancy Women Prenatal Diagnosis Tendency Selection FISH.