荧光原位杂交技术在稽留流产和死胎组织染色体检测中的应用

目的：采用荧光原位杂交(FISH)技术检测稽留流产和死胎组织中的染色体，探讨染色体数目异常与稽留流产、死胎的关系。方法：收集107例稽留流产及死胎组织，应用FISH技术检测13、16、18、21、22、X及Y染色体数目异常。结果:107例样本中有效样本99例，结果异常样本21例，异常比例为21.2%。常染色体数目异常以16、21号染色体三体的发生率最高(8/21)，其次为18(7/21)、22(7/21)、13(6/21)号染色体三体。在性染色体中，XXY发生率最高(6/21)。染色体异常在不同性别组间比较差异无统计学意义(P>0.05)。结论：染色体异常在孕早期、中期即可引起胚胎组织发育异常，导致胚胎停止发育或引起胎儿死亡，发生率与胚胎性别无关;应用FISH技术对早期妊娠及中期妊娠孕妇行染色体检
查，对有不良孕产史、高危产妇有临床指导意义。

Application of FISH technique in chromosome detection for missed abortion and dead fetus tissues

Objective To detect the chromosome in missed abortion an dead fetus tissues with fluorescence in situ hybridization(FISH) and study the relationship between number abnormality of chromosomes and missed abortion,dead fetus.Methods 107 cases of missed abortion or dead fetus were detected and the number abnormalities of 13,16,18,21,22,X,Y chromosomes were detected by FISH.Results Among 107 cases of samples,the number of useful cases was 99,there were 21 cases of abnormal results,the abnormal ratio was 21.2%.Trisomy of chromosome 21 and 16 had the highest incidence(8/21) among autosomal samples,followed by trisomy of chromosome 18(7/21),22(7/21) and 13(6/21).XXY had the highest incidence(6/21) among sex chromosome abnormalities.There was no significant difference in the chromosome abnormalities between different sexes(P>0.05).Conclusion Chromosome abnormality can cause the abmormal development of embryo tissue in the early and middle pregnancy,and lead to embryo stop growing or cause fetal death;and the occurrence rate has no relationship with sex.So it has clinical guiding significance to make targeted chromosome examination in early and middle pregnancy with FISH technique when the woman has the history of abnormal pregnancy or high risk pregnancy.