100例自然流产或死胎组织的染色体FISH检测

目的 1.探讨中国孕妇妊娠前三个月、中三个月、后三个月自然流产或死胎死产胎儿组织细胞中染色体异常总发生率及异常种类和各种异常发生率;2.为完善中国产前诊断与遗传咨询指南提供理论依据。方法对95例自然流产绒毛及5例死胎肌肉标本利用FISH检测13、16、18、21、22、X、Y染色体数目异常。结果检出异常病例44例,异常率为44%,其中阳性病例占20.45%,包括16号染色体三体,X染色体单体及47,XXY,分别占异常病例的2.27%,13.64%,4.55%。孕妇前、中、后三个月自然流产或死胎死产的发生率分别为77%,20%,3%;染色体异常率分别为66.67%,33.33%,0。结论染色体异常是导致自然流产的重要因素之一,FISH检测是进行染色体检查的一项有效方法,对自然流产的病因、诊断及再次妊娠具有重要的指导意义。

Fluorescence In Situ Hybridization of 100 cases of spontaneous abortion or fetal death

【Objective】 1.To study the mobidity of chromosomal abnormality,the type of chromosomal abnormality and the mobidity of each type of the fetal tissues which are from cases of spontaneous abortion or fetal death or stillbirth during frist,second and last trimester in China.2.To provide new theoretical evidence for improving the guide of prenatal diagnosis and genetic counseling of China.【Methods】 Chorionic villus from 95 cases of spontaneous abortion and muscle from 5 cases of fetal death were detected of number abnormality of chromosome 13、16、18、21、22、X and Y by Fluorescence In Situ Hybridization.【Results】 There are 44 abnormal cases(44%),the positive cases is 20.45% of it,including 16-trisomy(2.27%),45,X(13.64%) and 47,XXY(4.55%).The mobidity of spontaneous abortion or fetal death during first,second and last trimester is respectively 77%,20% and 3%,and the rate of chromosomal abnormality is respectively 66.67%,33.33% and 0.【Conclusion】 Embryo chromosomal abnormality is one of the most important reason of spontaneous abortion,and Fluorescence In Situ Hybridization is an effective method for chromosome detection,it of great help for the etiology and diagnosis of spontaneous abortion and the next pregnancy.