染色体多态性与不良孕产史关系的探讨  

Association between chromosome heteromorphisms and abnormal pregnancy

作　　者：付杰[1] 陈亮[1] 潘虹[1] 马京梅[1] 于丽[1] 杨慧霞[1] 

机构地区：[1]北京大学第一医院妇产科,北京100034

出　　处：《中国性科学》2016年第5期112-115,共4页Chinese Journal of Human Sexuality

摘　　要：目的:探讨染色体多态性与不良孕产史的关系。方法:对2007年10月1日至2014年9月30日在北京大学第一医院行羊水穿刺的两组孕妇的胎儿染色体多态性的发生率进行比较。孕妇曾有自然流产、胎停育、胎儿畸形史共836例(A组);已分娩正常活婴、生育年龄大于35岁并且B超未发现胎儿异常2899例(B组)。结果:A组检出30例胎儿染色体多态性,检出率为3.59%,明显高于B组胎儿染色体多态性检出率2.03%(P<0.01)。A组检出的染色体多态性中,9号染色体臂间倒位[inv(9)]最多,检出率为1.67%,与B组0.83%相比,差异有统计学意义(P<0.05);A组检出含Y染色体胎儿432例,4例Yqh-,检出率为0.93%,B组检出含Y染色体胎儿1471例,3例Yqh-,检出率为0.20%,Yqh-两组差异有统计学意义(P<0.05)。而D、G组染色体随体区变异、1qh+、9qh+、16qh+及Yqh+等染色体多态性检出率两组胎儿差异无统计学意义(P>0.05)。结论:染色体多态性中inv(9)、Yqh-与不良孕产史可能存在相关性,需进一步大样本资料加以证实。染色体多态性与不良孕产史的关系值得进一步深入研究。Objectives： To study the relationship between chromosome heteromorphisms and abnormal pregnancy. Methods： The presence of chromosome heteromorphisms in the fetal karyotypes of two pregnant women groups in Peking University First Hospital from October 1,2007 to September 30,2014 was compared. 836 pregnant women had a history of spontaneous abortion,embryo development arrest or induction of fetal malformation（ Group A）. 2899 pregnant women had delivered at least one normal living child and were 35 or older at their expected date of birth. There were no abnormalities in the fetuses detected during B ultrasound examination（ Group B）. Results： 30 cases were found to have chromosome heteromorphisms in group A,a frequency of heteromorphisms of 3. 59%,which was significantly higher than that of group B（ 2. 03%）,P〈0. 01. The most frequent type of heteromorphisms in group A was pericentric inversion of chromosome 9（ inv[9]） with a percentage of 1. 67%,and the difference was significant compared to 0. 83% in group B（ P〈0. 05）. In group A,432 fetuses were male,and 4 cases were found to be carriers of Yqh-,with a percentage of 0. 93%,while in group B,1471 fetuses were male,and 3 cases were found to be carriers of Yqh-,with a percentage of 0. 20%. Differences in frequency of Yqh- between the two groups was significant（ P〈0. 05）. There was no significant difference in the frequency of other heteromorphisms such as D,G- group variants,1qh ＋,9qh ＋,16 qh ＋ and Yqh ＋ between the two group,P〈0. 05. Conclusion： Among chromosome heteromorphisms,significant difference between the two groups is found in the inv（ 9） and Yqh- variants. The relationship between other chromosome heteromorphisms and abnormal pregnancy remains to be further studied.

关 键 词：染色体多态性 不良孕产史 

分 类 号：R698.2[医药卫生—泌尿科学]