MLPA技术联合染色体核型分析在羊水染色体非整倍体产前诊断中的应用  

Application of MLPA technique combined with karyotype analysis in prenatal diagnosis of chromosomal aneuploidy in amniotic fluid

作　　者：覃宋强 徐玉婵 韦小妮 罗世强 韦塑峰 覃柳群 韦德宁 王秋华 王文丹 罗颖花 陈丽竹 蔡鹏飞 许泽辉 严提珍 蔡稔 QIN Song-qiang;XU Yu-chan;WEI Xiao-ni;LUO Shi-qiang;WEI Su-feng;QIN Liu-qun;WEI Dening;WANG Qiu-hua;WANG Wen-dan;LUO Ying-hua;CHEN Li-zhu;CAI Peng-fei;XU Ze-hui;YAN Ti-zhen;CAI Ren(Department of Medical Genetics,Liuzhou Maternity and Child Healthcare Hospital,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院医学遗传科,广西柳州545001

出　　处：《中国优生与遗传杂志》2020年第2期157-160,共4页Chinese Journal of Birth Health & Heredity

基　　金：柳州市科技重大专项项目(2018AF10501);广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2015192);广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20180044)。

摘　　要：目的探讨多重连接探针扩增技术联合染色体核型分析在羊水染色体非整倍体产前诊断中的应用。方法选取我院2016年1月至2017年12月收治的9370例符合产前诊断指征的孕妇,行羊膜腔穿刺术获取胎儿羊水标本,同时进行MLPA技术检测和染色体核型分析,并采集产前诊断指征等相关临床资料。结果 MLPA技术对羊水产前诊断样本检测成功率为100%,21、13、18、性染色体非整倍体与染色体核型分析两者检测符合率为99.8%;染色体非整倍体异常检出率由高到低的孕妇产前诊断指征分别为:高龄妊娠(占55.7%)、NIPT高风险(30.17%)、唐氏筛查临界/高风险(26.72%)、B超异常中以NT增厚和胎儿鼻骨未显示所占比例较高,分别为6.03%,5.60%。结论 MLPA技术具有高通量、快速、低成本等优势,但也有不能检测低比例的嵌合、三倍体和染色体倒位、易位,探针不能覆盖整个基因组的局限性,联合传统的染色体核型分析应用于羊水染色体非整倍体产前诊断,对提高胎儿染色体非整倍体的检出,减少出生缺陷具有重要意义。Objective:To explore the clinical value of multiple ligation-dependent probe amplification(MLPA)and karyotype analysis in prenatal detection of amniotic fluid aneuploidy.Methods:9370 pregnant women with prenatal diagnosis indications admitted to our hospital from January 2016 to December 2017 were selected.Amniocentesis was performed to obtain fetal amniotic fluid samples.Meanwhile,MLPA technique and chromosome karyotype analysis were performed,and prenatal diagnostic criteria were collected.Results:The success rate of MLPA in detecting antepartum diagnostic samples of amniotic fluid was 100%,and the coincidence rate of 21,13,18,sex chromosome aneuploidy and karyotype analysis was 99.8%.The prenatal diagnostic indicators of the high to low detection rate of chromosomal aneuploidy abnormalities in pregnant women were as follows:Advanced age pregnancy(55.7%),high risk of NIPT(30.17%),threshold or high-risk of Down′s screening(26.72%),high proportion of NT thickening and fetal nasal bone failure in ultrasound abnormalities(6.03% and 5.60%,respectively).Conclusion:MLPA has the advantages of high throughput,high speed and low cost,but it can not detect low proportion of chimerism,triploid and chromosome inversion,translocation,and the limitation of the probe that can not cover the whole genome.MLPA combined with traditional chromosome karyotype analysis for prenatal diagnosis of amniotic fluid chromosome aneuploidy is of great significance to improve the detection of fetal chromosome aneuploidy and reduce birth defects.

关 键 词：多重连接探针扩增技术 染色体非整倍体 产前诊断 染色体核型分析 

分 类 号：R596.1[医药卫生—内科学]