title: Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Mir Davood
authors: MD
authors: Omrani
authors: Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Faezeh
authors: F
authors: Azizi
authors: Department of Clinical Biochemistry, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Masoumeh
authors: M
authors: Rajabibazl
authors: Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Niloufar
authors: N
authors: Safavi Naini
authors: Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors: Sara
authors: S
authors: Omrani
authors: Edward Via College of Osteopathic Medicine, Virginia, USA.
authors: Arezo Mona
authors: AM
authors: Abbasi
authors: Feto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University, Tehran, Iran.
authors: Soraya
authors: S
authors: Saleh Gargari
keywords: Common aneuploidies; MLPA; Prenatal screening