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目的探讨间期核荧光原位杂交技术(interphase fluorescence in situ hybridization,FISH)在稽留流产病因诊断中的应用价值以及稽留流产中染色体异常的发生率。方法 2010～2011年我院妇产科收治的稽留流产病例95例及人工流产病例40例,取流产绒毛组织分别行间期核FISH检测13、16、18、21、22、X、Y染色体数目异常,同时进行细胞培养,制备中期染色体进行G显带核型分析。结果间期核FISH在95例流产绒毛组织中共检出40例(42.1%)染色体数目异常,与G显带核型分析结果相一致。40例中三体31例(32.6%),X单体5例(5.3%),多倍体4例(4.2%)。常染色体非整倍体的发生率(35.8%)大于性染色体非整倍体(6.3%),检出率最高的是16三体,占48.4%(15/31),单体型异常仅检出X单体,未检出常染色体单体。稽留流产组染色体数目异常发生率高于对照组(P<0.05),年龄大于或等于35岁者稽留流产染色体数目异常的发生率高于年龄小于35岁者(P<0.05)。结论绒毛染色体数目异常是导致稽留流产的重要病因,在诊断稽留流产染色体异常方面,间期核FISH技术是一种快速简便、灵敏特异的方法,具有重要的临床应用价值。
Objective To investigate the value of interphase fluorescence in situ hybridization (FISH) in the diagnosis of missed abortion and the incidence of chromosomal abnormalities in missed abortion. Methods From 2010 to 2011, 95 cases of missed abortion and 40 cases of induced abortion were treated by obstetrics and gynecology in our hospital. Interphase nucleus FISH was used to detect the number of 13,16,18,21,22, X, Y chromosome Abnormal, while cell culture, preparation of metaphase chromosomes G-band karyotype analysis. Results Interphase nuclear FISH detected a total of 40 (42.1%) chromosomal abnormalities in 95 cases of abortion villus, which was consistent with the results of G-band karyotype analysis. There were 31 cases (32.6%) with trisomy in 40 cases, 5 cases (5.3%) with X, 4 cases with polyploidy (4.2%). The incidence of autosomal aneuploidy (35.8%) was greater than that of sex chromosome aneuploidy (6.3%), the highest detection rate was 16 trisomy 16 (48.4%, 15/31) Out of X monomer, not detected autosomal monomer. The incidence of chromosomal abnormalities in missed abortion group was higher than that in control group (P <0.05). The incidence of abnormal abortion chromosome number in patients older than or equal to 35 years old was higher than that in patients younger than 35 years old (P <0.05). Conclusion The abnormal chromosome number is the important cause of missed abortion. Interphase nuclear FISH is a rapid, convenient and sensitive method for the diagnosis of missed abortion, which has important clinical value.