Fetal aneuploidy detected by multiplex ligation-dependent probe amplification (MLPA)

VernacularTitle:多重连接依赖探针扩增技术检测胎儿非整倍体染色体异常
Author: Qichang WU ; Wenbo WANG ; Yu JIANG ; Hui KONG ; Xiaoling ZHONG ; Weiwei YU ; Li SUN ; Yulin ZHOU
Publication Type:Journal Article
Keywords: Aneuploidy; Chromosome; Karyotype; MLPA; Prenatal diagnosis
From: Chinese Journal of Perinatal Medicine 2010;13(2):110-113
CountryChina
Language:Chinese
Abstract: Objective To investigate the role of muhiplex 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).ineluding retained abortion and fetal death,were also processed bv MLPA. Results Five cases of 21-trisomy,4 eases 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.