Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?
محل انتشار: مجله طب تولید مثل ایران، دوره: 12، شماره: 4
سال انتشار: 1393
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 477
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شناسه ملی سند علمی:
JR_IJRM-12-4_006
تاریخ نمایه سازی: 16 شهریور 1395
چکیده مقاله:
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.
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نویسندگان
Mir Davood Omrani
Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Faezeh Faezeh Azizi
Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Masoumeh Rajabibazl
Department of Clinical Biochemistry, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Niloufar Safavi Naini
Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran