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目的:探讨B超联合FISH实验室诊断技术分析胎儿稽留流产与染色体非整倍体关系并对其他影响因素进行综合分析。方法:采用FISH技术对广西267例B超诊断为稽留流产孕妇的胎儿绒毛组织行13,16,18,21,22,X,Y染色体数目检测,荧光显微镜下观察结果;采用SPSS13.0对相关数据进行统计分析。结果:267例稽留流产胎儿绒毛组织中,染色体数目异常95例,异常率35.6%,数目异常以三体最常见,其次为四体,少见部分单体;异常病例样本中存在多种染色体混合嵌合体现象,如混合嵌合三体(2n+1/2n),混合嵌合四体(2n+2/2n),混合嵌合单倍体、三体、四体(2n-1/2n+1/2n+2/2n)等;稽留流产与患者年龄、流产史、孕周具有显著相关性。结论:染色体数目异常与染色体混合嵌合均是稽留流产的重要原因,同时稽留流产发生与患者高龄、多次流产史、早期妊娠密切关系。
OBJECTIVE: To investigate the relationship between fetal abortion and chromosomal aneuploidy by using B-FISH combined with FISH laboratory diagnostic techniques and to analyze other influencing factors. Methods: FISH was used to detect the number of chromosomes 13, 16, 18, 21, 22, X and Y in fetus chorion tissue of 267 pregnant women diagnosed as missed abortion by Guangxi FISH. The results were observed by fluorescence microscopy. The correlation was analyzed by SPSS13.0 Data for statistical analysis. Results: There were 95 abnormal chromosomes and 35.6% abnormal chromosomes in 267 fetal abortion fetuses. The number of anomalies was the most common in trisomy, followed by the four-body and rare ones. In the abnormal cases, there were many mixed chromosomes (2n + 1 / 2n), mixed chimeric four (2n + 2 / 2n), mixed chimeric haploid, trisomic, quaternary (2n-1 / 2n + 1 / 2n + 2 / 2n), etc .; missed abortion and patient age, history of abortion, gestational age has a significant correlation. Conclusion: Abnormal chromosomal number and chimerism are the major causes of missed abortion. At the same time, abortion is closely related to the elderly patients, multiple abortion history and early pregnancy.