摘要
目的探讨多重连接依赖探针扩增技术（multiplex ligation—dependent probea mplification，MLPA）在检测胎儿非整倍体染色体异常中的作用。方法2007年6月至2008年12月对263例需进行产前诊断的孕妇（产前诊断组）取羊水或脐血进行MLPA检测，同时进行传统的染色体核型分析。对26例发生稽留流产或死胎的孕妇取胎儿组织提取DNA进行MLPA检测。结果产前诊断组检出5例21-三体，4例18-三体，1例13-三体和3例45，X，与细胞核型分析结果一致。稽留流产或死胎组检出2例45，x和1例18-三体。结论MLPA可用于检测胎儿最常见的13、18、21、x、Y染色体非整倍体异常，用于产前诊断，快速简单，准确经济，有一定的临床推广价值。
Objective To investigate the role of multiplex ligation-dependent probe amplification （MLPA） in identifying fetal aneuploidy of chromosomes 13, 18, 21, X, and Y. Methods From June 2007 to December 2008, 263 samples （prenatal diagnosis group）, including amniotic or umbilical cord blood from pregnant women who required prenatal diagnosis, were processed in parallel by MLPA and conventional karyotype to detect fetal aneuploidy. Another 26 samples（fetal death group）, including retained abortion and fetal death, were also processed by MLPA. Results Five cases of 21-trisomy, 4 cases of 18-trisomy, 1 case of 13-trisomy and 3 cases of 45,X were identified among the prenatal diagnosis group by MLPA, and the results were consistent with karyotype. Two cases of 45,X and 1 case of 18-trisomy were identified among the retained abortion and fetal death group. Conclusions MLPA is a rapid, efficient, simple, reliable and economical technique in detecting most common chromosomal aneuploidies and have important clinical value.
出处
《中华围产医学杂志》
CAS
2010年第2期110-113,共4页
Chinese Journal of Perinatal Medicine
基金
福建省厦门市科技局计划指导性项目（3502220077069）
