can we rely on the multiplex ligation-dependent probe amplification method (mlpa) for prenatal diagnosis?

background: the major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, x and y. because multiplex ligation-dependent probe amplification (mlpa) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. objective:  to evaluate the sensitivity and specificity of mlpa in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. materials and methods:  genomic dna was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. aneuploidies screening of chromosomes 13, 18, 21, x and y were carried out using specific mlpa probe mixes (p095-a2). for comparison purposes, samples were also tested by quantitative fluorescent-pcr (qf-pcr) and routine chromosomal culture method. results:  using this specific mlpa technique and data-analyzing software (genemarker v1.85), one case was diagnosed with 45, x (e.g. monosomy x or turner’s syndrome), and the remaining 54 cases revealed normal karyotypes. these results were concordant with routine chromosomal culture and qf-pcr findings. conclusion:  the experiment demonstrates that mlpa can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.