180例孕中期胎儿羊水细胞染色体倒位的细胞遗传学分析

180 cases of second trimester fetal amniotic fl uid cytogenetic analysis of chromosome inversion

目的研究孕中期胎儿羊水染色体倒位与孕妇临床诊断之间的关系。方法通过对孕妇行羊膜腔穿刺,抽取羊水进行羊水细胞遗传学检查。胎儿染色体异常者需对父母进行外周血染色体检查。结果本实验室10364例羊水。共发现染色体倒位180例,其中9号染色体倒位159例,占倒位总数的88.9%(159/180),10例Y染色体倒位,占倒位总数的5.6%(10/180),其余的倒位还涉及1、2、3、4、7、11、14、15、16、20号常染色体。结论不同的临床指针都有可能是胎儿染色体倒位。

Objective： The mid pregnancy fetal amniotic fluid chromosome inversion and the relationship between the clinical diagnosis of pregnant women. Methods. Through the line for the pregnant woman amniotic cavity puncture, extraction of the anmiotic fluid in the amniotic fluid cytogenetic examination.Fetal chromosomal abnormal peripheral blood chromosome examination should be carded out to their parents. Results： In this lab, 10364 cases of amniotic fluid. 180 cases with chromosome inversion of chromosome 9 inversion in 159 cases, accounting for 88.9% of the total inversion （159/180） , 10 cases of Y chromosome inversion, 5.6% （10/180） of the total number of inversion, the rest of the inversion involving 1, 2, 3, 4, 7, 11, 14, 15, 16, 20, autosomal. Conclusions, Different clinical pointer can be fetal chromosomal inversion.