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目的探讨羊水细胞荧光原位杂交(fluorescence in situ hybridization,FISH)技术与染色体核型分析联合检测特纳(Turner)综合征,并结合产前超声筛查结果,评价FISH技术在产前诊断中的应用价值。方法对2010年1月至2012年12月来院产前遗传学诊断6455例孕妇,抽取羊水体外细胞培养后用常规G显带技术染色体核型分析为Turner综合征5例,正常对照2例,同时用FISH检测间期细胞13、18、21及XY的染色体数目。结果 Turner综合征5例中2例为染色体核型及FISH检测45,X,超声筛查结果异常;3例为染色体核型46,X,i(X)(q10),FISH检测正常,超声筛查结果异常;2例为染色体核型46,XX,FISH检测正常,超声筛查结果未见明显异常。结论 (1)FISH技术应用于产前诊断较常规核型分析方法有效缩短报告时间,但在Turner综合征染色体结构异常的患者,单纯使用FISH将发生漏诊。(2)FISH检测不能完全替代常规染色体核型分析,必须同时行羊水细胞染色体核型分析。
Objective To investigate the combination of fluorescence in situ hybridization (FISH) and karyotype analysis of amniotic fluid cells for the detection of Turner’s syndrome and to evaluate the effect of FISH on prenatal diagnosis Value. Methods Prenatal genetic diagnosis of 6455 pregnant women from January 2010 to December 2012 in our hospital was carried out. Extracted amniotic fluid was cultured in vitro and analyzed by conventional G-banding technique. The karyotypes were Turner’s syndrome (5 cases) and normal control (2 cases) The number of chromosomes of interphase 13, 18, 21 and X Y was detected by FISH. Results Turner syndrome in 5 cases 2 cases of chromosome karyotype and FISH detection 45, X, ultrasound screening results were abnormal; 3 cases of chromosome karyotype 46, X, i (X) (q10), FISH was normal, ultrasound screening Check the results abnormalities; 2 cases of chromosome karyotype 46, XX, FISH was normal, no significant abnormal ultrasound screening results. Conclusion (1) FISH technique is more effective in prenatal diagnosis than conventional karyotyping method to shorten the reporting time. However, in patients with structural abnormalities of Turner syndrome, only FISH will be missed. (2) FISH test can not completely replace conventional chromosome karyotype analysis, karyotype analysis of amniotic fluid cell chromosome must be performed at the same time.