孕中期羊水染色体产前诊断异常检出率与临床诊断相关性的研究  

Association study about abnormality detection rate of cytogenetic prenatal diagnosis in second trimester amniotic fluid and clinical description

作　　者：王鼎[1] 孔舒[1] 潘倩莹[1] 钟旋[1] 范勇[1] 孙筱放[1] 

机构地区：[1]广州医科大学附属第三医院妇产科研究所实验部,广东省产科重大疾病重点实验室,广东省普通高校生殖与遗传重点实验室,广州510150

出　　处：《中国优生与遗传杂志》2015年第1期25-27,59,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金资助项目(81202604;31171229;U1132005);广东省自然科学基金资助项目(S2013040012649);广州市科信局计划(2011y-00038-1);教育部博士点新教师项目(B2012169)

摘　　要：目的应用羊水进行细胞遗传产前诊断,探讨孕中期胎儿染色体的送检趋势,以及临床诊断与染色体异常检出率之间的相关性。方法对产前诊断送检的羊水样本进行染色体分析。收录、统计2012年10月至2013年12月共2026份送检羊水染色体检查标本的临床诊断资料与染色体结果,总结羊水染色体送检的变化,分析各临床诊断中染色体异常检出率的差异,评估在染色体异常方面的风险值。结果 2012年第四季度至2013年第二季度产前诊断羊水染色体送检数量同比变化不大,2013年第三、四季度明显下降。异常检出率最高的组别是不良孕史组,为8.77%,与总样本的异常检出率相比,差异有统计学意义(卡方检验,P值为0.03,小于0.05)。评估临床诊断检查染色体异常的风险值,无高风险或低风险诊断组别。结论孕妇无创产前筛查和CGH的开展使羊水细胞遗传产前诊断显著减少,不良孕产史的羊水染色体遗传产前检出率最高,有统计学意义;所有临床分组的风险值升高或降低不明显。Objective： This study was to illustrate the trend of the prenatal diagnosis and find out the difference of abnormal karyotypes detection rate in each clinical description by processing the amniotic fluid cytogenetic diagnosis. Methods： Cytogenetic prenatal diagnosis was performed by clinical punctured amniotic fluid samples. There were 2026 records of amniotic fluid cytogenetic diagnosis was involved in this study from 2012 October to 2013 December, including the clinical description and the karyotypes report. The difference between the abnormal detection rate of each clinical description with the total rate was compared by chi square statistical analysis, in order to find out the most important clinical description of influence of karyotypes abnormal. Results： The number of prenatal diagnosis of anmiotic fluid cytogenetic was increased from 2012 the fourth quarter to 2013 the second quarter, while it is decreased in 2013 the third and fourth quarter. The highest abnormal detection rate was 8.77%, which was the pregnant with bad pregnancy history group, and it was significant, while the comparison of abnormal detection in each clinical description grouping and total sample, P= 0.03 （〈0.05） by chi square test. The odds ratio of each clinical group was not significant higher or lower. Conclusion： As the trend of amniotic fluid cytogenetic prenatal diagnosis cases reduce, the reason was due to the process of prenatal noninvasive screening and CGH. The association of clinical description and abnormal detection was significant higher in the bad pregnancy history group. The odds ratio of each clinical grouping was not higher or lower than the others.

关 键 词：产前诊断 羊水 核型分析 临床诊断 

分 类 号：R714.55[医药卫生—妇产科学]