Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

摘要: The introduction of prenatal screening requires rapid high-throughput diagnosis common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) allows for quick, easily automated multiplex testing these aneuploidies in one polymerase chain reaction. We performed a large prospective study using MLPA on 4000 amniotic fluid (AF) samples including all indications and compared its value to karyotyping fluorescence situ hybridization (FISH). can reliably determine with 100% sensitivity specificity. Moreover, some mosaic cases structural chromosome aberrations were detected as well. In male fetus, triploidies be by an aberrant pattern signals, which mimics maternal cell contamination (MCC). Macroscopic blood was encountered 3.2% the AF samples. 20% samples, found consistent MCC, although there no false negatives most As vast majority inconclusive results (1.7%) is due potential we designed protocol whether blood-contaminated if fetal origin. Then, number could theoretically reduced 0.05%. propose alternative interpretation relative signals aneuploidy (RAD). discuss detection (submicroscopic) anomalies. reliable method that replace FISH used stand-alone test RAD instead karyotyping.