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Clinical and Experimental Obstetrics & Gynecology  2017, Vol. 44 Issue (2): 220-225    DOI: 10.12891/ceog3502.2017
Original Research Previous articles | Next articles
QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages
I. Isidori1, *(), C. Spapperi1, A. Barbati2, A. Mencarelli1, 2, G. Stangoni1
1 Regional Center of Medical Genetics, Hospital of Perugia, Perugia, Italy
2 Department of Surgical and Biomedical Sciences, University of Perugia, Perugia, Italy
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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.
Key words:  Recurrent miscarriages      QF-PCR      MLPA      Aneuplodies      Chromosomal alterations     
Published:  10 April 2017     
*Corresponding Author(s):  I. ISIDORI     E-mail:

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I. Isidori, C. Spapperi, A. Barbati, A. Mencarelli, G. Stangoni. QF-PCR and MLPA: a reliable molecular system to detect chromosomal alterations in miscarriages. Clinical and Experimental Obstetrics & Gynecology, 2017, 44(2): 220-225.

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