FISH技术检测自然流产或死胎死产组织染色体异常的研究

Research on detection of chromosome abnormalities in spontaneous abortion,fetal death or stillbirth fetuses by FISH

目的探讨自然流产或死胎死产胎儿组织染色体异常发生情况。方法采用FISH技术对100例妊娠前三个月、中三个月和后三个月自然流产或死胎死产胎儿组织进行染色体数目检测。结果 100例样本检测全部成功,检出染色体数目异常病例45例,异常率45%,异常类型主要为16三体(20.00%),XO(17.78%)和XXY(17.78%),孕妇妊娠前、中、后三个月自然流产或死胎死产的发生率分别为60%、37.78%和2.22%。孕妇不同年龄组间(<35岁和≥35岁)和不同既往流产次数(0次、1次和≥2次)组间的染色体异常率差异并无统计学意义(P>0.05)。结论染色体数目异常是导致自然流产的重要因素之一,FISH技术是一种快速准确的分子诊断技术,对自然流产的病因明确、诊断及再次妊娠指导具有重要应用价值。

Objective：To evaluate the chromosome abnormalities in spontaneous abortion,fetal death or stillbirth fetuses. Methods：100 cases of spontaneous abortion,fetal death or stillbirth fetuses tissues were used to detect chromosome number by FISH. Results：The overall success rate for FISH was 100%. 45 abnormal cases were checked out,and the abnormal rate was 45%,mainly including trisomy 16（20.00%）,monosomy XO（17.78%）and XXY（17.78%）. Spontaneous abortion,fetal death or stillbirth rates during the first,middle and last three pregnant months were 60%,37.78% and 2.22% respectively. There was no significant statistical difference on chromosome abnormal rate among different age groups（35 and ≥35）and different abortion number groups（0,1 and 2 times）.（P〉0.05）Conclusion：Chromosome number abnormalities are one of the important factors that lead to abortion. FISH is a rapid and accurate molecular diagnosis method,and it is of great guiding significance for the etiological diagnosis of spontaneous abortion and reproduction.