IMR Press / CEOG / Volume 44 / Issue 2 / DOI: 10.12891/ceog3502.2017

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Original Research
QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages
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1 Regional Center of Medical Genetics, Hospital of Perugia, Perugia, Italy
2 Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy
Clin. Exp. Obstet. Gynecol. 2017, 44(2), 220–225;
Published: 10 April 2017

Purpose of investigation: The aim of this study was to assess the efficacy of the quantitative fluorescent-polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA) combined system to detect chromosome alterations in miscarriage products, as an alternative to conventional cytogenetic testing. Material and Methods: This study was conducted between 2011 and 2015 on 264 samples, analyzed using the combined system: QF-PCR/MLPA. This approach first analyzed miscarriage products for chromosomes 13, 18, 21, X and Y, using QF-PCR analysis; in case of ovular fragments, an analysis of maternal DNA was carried out in order to establish the origin of material. Whenever fetal origin was determined, MLPA analysis on the subtelomeric regions was carried out. Results: On 264 miscarriages analyzed, 229 were of fetal origin and produced the following results: 53.7% normal and 46.3% pathological. Of the latter, 74.4% were autosomal aneuploidies, 10.4% triploidies, 8.5% sex chromosomal aneuploidies, 3.7% structural alterations, and 2.7% multiple aneuploidies. Results from QF-PCR were obtained from all samples, whereas unambiguous MLPA results were obtained in about 90% of all cases. Conclusion: This approach results being highly effective for examining all chromosome aneuploidies, triploidies, as well as structural unbalanced alterations in the subtelomeric regions.
Recurrent miscarriages
Chromosomal alterations
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