地贫孕妇与非地贫孕妇羊水染色体的对比分析  

Comparative analysis of amniotic fluid chromosomes between pregnant women with thalassemia and non thalassemia

作　　者：韦世录 余奇松 陈萍 WEI Shilu;YU Qisong;CHEN Ping(Institute of life sciences,Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学生命科学研究院,南宁530021

出　　处：《实用医学杂志》2019年第6期993-996,共4页The Journal of Practical Medicine

基　　金：中国医学科学院地中海贫血防治研究重点实验室(编号:2017PT32012);广西科技基地和人才专项(编号:桂科AD17129061);广西重点实验室建设项目(编号:17-259-25)

摘　　要：目的分析比较地贫孕妇与非地贫孕妇胎儿羊水染色体异常核型检出率。方法选择2016年1月至2018年8月于广西医科大学第一附属医院行羊膜腔穿刺进行染色体检查的635例地中海贫血孕妇和1 509例非地中海贫血孕妇为研究对象,回顾性分析孕妇胎儿羊水染色体异常核型及其产前诊断指征。结果 2 144例羊水标本共检出染色体异常核型134例,检出率为6.25%,其中地贫组异常核型检出率为4.25%(27/635),非地贫组异常核型检出率为7.09%(107/1 509),两组羊水染色体异常核型检出率差异有统计学意义(P <0.05)。但两组羊水染色体异常核型在数目异常、结构异常、嵌合体分布以及不同羊膜腔穿刺指征异常核型检出率的比较中,差异无统计学意义(P> 0.05)。结论地贫孕妇胎儿羊水染色体异常核型检出率低于非地贫孕妇,差异有统计学意义(P <0.05)。孕妇患地中海贫血不会导致胎儿染色体异常或者增加胎儿染色体异常的几率。Objective To compare the rates of chromosomal abnormalities in amniotic fluid between thal assemia pregnant women and non thalassemia pregnant women. Methods Six hundred and thirty five thalassemia pregnant women and 1509 non thalassemia pregnant women who underwent amniocentesis in the First Affiliated Hospital of Guangxi Medical University from January 2016 to August 2018 were enrolled in this study. The chromo some abnormalities of amniotic fluid in pregnant women and their prenatal diagnostic indications were retrospective ly analyzed. Results Among 2144 amniotic fluid samples,134 cases were found to have abnormal karyotypes, with the detection rate of 6.25%. The detection rate of abnormal karyotypes was 4.25%( 27/635) in the thalassemia group and 7.09%( 107/1509) in the non thalassemia group. The detection rate of abnormal karyotypes in amniotic fluid between the two groups was statistically different(P < 0.05). However,there were no significant differences in the number of abnormal karyotypes,the structure of abnormal karyotypes,the distribution of chimeras and the detection rate of abnormal karyotypes in different indications of amniocentesis between the two groups(P > 0.05). Conclusion The detection rate of abnormal karyotype of amniotic fluid chromosome in thalassemia pregnant wom en was lower than that in non thalassemia pregnant women(P < 0.05). Thalassemia in pregnant women does not cause fetal chromosomal abnormalities or increase the risk of fetal chromosomal abnormalities.

关 键 词：地中海贫血孕妇 羊水染色体 异常核型 

分 类 号：R714.5[医药卫生—妇产科学]