ArticleThe Journal of molecular diagnostics : JMD2009
Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.
Article in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing.Diagnostics (Basel, Switzerland) · 2021Article
- Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.Genome research · 2018Article
- Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?Iranian journal of reproductive medicine · 2014Article
- Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?Molecular cytogenetics · 2012Article
- Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.Journal of postgraduate medicineArticle
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Authors and funding
11 authors.
Funding
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Abstract
The objective of this study was to examine the suitability of multiplex ligation-dependent probe amplification (MLPA) in chorionic villus samples as a replacement for traditional karyotyping for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Chorionic villus samples were diagnosed by traditional karyotyping using short-term cultures (STC) and long-term cultures (LTC), and by MLPA using kit P095. DNA was extracted after digestion of whole villi with proteinase K and/or trypsin and collagenase. Different cell-dissociation procedures were tested to obtain MLPA results representative of the cytotrophoblast layer and the mesenchymal core. Over 95% of the MLPA results were in concordance with the traditional karyotyping of STC and LTC. Traditional karyotyping revealed seven mosaics. After digestion of whole villi with proteinase K, only abnormal cell lines confined to the STC gave rise to abnormal MLPA results. In one sample, the complete discrepancy between STC and LTC was resolved after enzymatic dissociation of cells from the cytotrophoblast layer and the mesenchymal core. MLPA in chorionic villus samples was found to be a reliable test for the detection of (an)euploidies of chromosomes 21, 18, 13, X, and Y. Whole villi digestion with proteinase K resulted in the over-representation of cytotrophoblasts in the DNA pool. To obtain MLPA results representative for STC and LTC, enzymatic dissociation of cells from the cytotrophoblast layer and mesenchymal core is required.
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