自然流产组织应用FISH技术的染色体异常遗传因素分析

目的分析兰州地区自然流产组织中的染色体异常发生率，并探讨染色体异常与自然流产的年龄、孕周、次数、胚胎性别的关系。方法应用荧光原位杂交（fluorescent in situ hybridization，FISH）技术检测了299例自然流产的绒毛或胚胎组织。结果我们检测出了119例染色体异常病例，其中16-三体最为常见，占所有异常总数的27．73％，X单体次之，占18．49％。我们还发现自然流产与流产时的妊娠孕周和胚胎性别有关。结论染色体异常是自然流产的一个重要原因，尽早地遗传咨询能够有效的降低出生缺陷的发生率。

The genetic factor analysis of the chromosome abnormalities by FISH in tissues of Spontaneous abortion.

Objective. The aim of this study was to highlight the most common chromosomal causes of fetal loss, and the relationship between the maternal age, gestational age, abortion times, fetus gender and spontaneous abortion. Methods： In this study, 299 of Spontaneous abortion were analyzed by using fluorescent in situ hybridization （FISH） on interphase nuclei from chorionic villus or fetal tissues. Results： 119 chromosomal abnormalities were observed. Of them, trisomy l6 was the most frequently represented, accounting for 27.73% of all chromosome aberrations, followed by monosomy X （18.49%） , We found the spontaneous abortion is associated with gestational age and fetus gender. Conclusion： Chromosome abnormality is an important reason of spontaneous abortion, genetic counseling can effectively reduce the incidence of birth defects as early as possible.