Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

摘要: In routine prenatal diagnostics we used a commercial multiplex ligation-dependent probe amplification (MLPA) kit for aneuploidy screening chromosomes 13, 18, 21, X and Y. We present the results of 1593 consecutive samples analysed diagnosed prior to knowledge G-banding analysis during 8-month use computer-assisted MLPA screening. total, 27 aneuploidies were detected. There no false positive while two negative could be explained by placental mosaicism partial monosomy, respectively. 3.2% inconclusive. conclude that automatic computer assisted is rapid, simple reliable method detection in diagnostics.