Clinical evaluation of rapid prenatal detection of aneuploid abnormalities with multiplex ligationdependent probe amplification / 中华检验医学杂志

ABSTRACT

Objective To estimate clinical application of multiplex ligation-dependent probe amplification (MLPA) for rapid prenatal detection of aneuploid abnormalities in amniotic fluid.Methods Totally 1229 amniotic fluid samples were collected from the pregnant women receving prenatal diagnosis for chromosomal abnormalities in Prenatal Diagnosis Center of Shenzhen Maternity and Child Healthcare Hospital from October 2009 to December 2010.All the samples were investigated independently with both MLPA and G-band karyotyping to detect aneuploidies of chromosomes X,Y,13,18 and 21.A comparison was followed the results acquired from two methods for evaluation of sensitivity and specificity of MLPA.ResultsThirtyeight aneuploidies were detected by G-band karyotyping,in which 34 were nonmosaic aneuploidies and 4were mosaic aneuploidies.MLPA and G-band karyotyping had consistent results in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21. Among 4 mosaic aneuploidies detected by G-band karyotyping,2 were confirmed by MLPA independently.Conclusions The sensitivity and specificity of MLPA in detecting the nonmosaic aneuploidies of chromosomes X,Y,13,18 and 21 were clinically acceptable.MLPA provides an efficient,reliable method for rapid detection of aneuploidies.