MLPA联合染色体核型分析在产前诊断中的应用探讨  

Combination of MLPA with karyotype analysis in the prenatal diagnosis

作　　者：周君[1] 朱庆文[1] 徐爱萍[1] 张玲莉[1] 

机构地区：[1]南通市妇幼保健院产前筛查与诊断中心,江苏南通200618

出　　处：《中国优生与遗传杂志》2015年第10期49-50,22,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨MLPA技术联合羊水培养核型分析在产前诊断中的应用价值。方法采集妊娠18周-24周、有产前诊断指征孕妇的羊水标本695例,同时进行MLPA与染色体核型分析2种检测方法。结果在常见染色体数目异常方面,MLPA检测结果与染色体核型分析结果达到高度一致性,符合率达100%;优缺点:前者操作简便、出结果快速,但不能检测出染色体结构异常;后者不仅能检测染色体非整倍体异常也可检测染色体结构异常,但耗时长、技术要求高。结论同时开展MLPA检测和羊水培养核型分析,可实现优势互补,在产前诊断中具有良好的应用前景。Objective：To study the combination of MLPA with karyotype analysis in the prenatal diagnosis. Methods：The amniotic fluid samples were collected from 695 women at 18-24 weeks of pregnant women with indications of prenatal diagnosis. MLPA and karyotyping,two different inspection methods were performed at the same time. Results：MLPA results were consistent completely with that of karyotype analysis in the number of chromosome abnormalities. Pros and cons：the former is simple to operate,early to be reported,but could not detect chromosome structural abnormalities;the latter could not only detect chromosome aneuploidy abnormalities also could detect chromosome structural abnormalities,but it was time-consuming and demanded high in technic. Conclusion：The combination of MLPA and karyotype analysis could complement each other to achieve a good prospect in prenatal diagnosis.

关 键 词：MLPA 产前诊断 染色体核型分析 非整倍体 联合应用 

分 类 号：R714.55[医药卫生—妇产科学]