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Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis

Archives of Gynecology and Obstetrics volume 291, pages 347–354 (2015)Cite this article

An Erratum to this article was published on 03 September 2014

Abstract

Purpose

The present study aims to evaluate whether multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric probes is to be an alternative method of routine G-banding chromosome analysis from pregnancy loss.

Methods

A review of 5 years (from 2005 to 2009) of karyotype for products of conception (POCs) was carried out. From June 2010 to June 2012, MLPA was performed in parallel with karyotype analysis on 347 miscarriages. Karyotyped miscarriages served as controls in this blinded study. Abnormal results were confirmed by fluorescence in situ hybridization.

Results

A review of 5 years of karyotype results for POCs indicated that 11.46 % of cases failed to karyotyping. In the study periods, MLPA results were successfully obtained from all cases including 51 (14.7 %) culture failed cases, chromosomal abnormalities were detected in 27 (52.9 %) of cases which failed to grow or could not be cultivated. It took 3 weeks by conventional karyotyping, but it required at least 24 h and at most a week by MLPA from tissue sampling to final reporting. 47 cases showed discordant results between karyotyping and MLPA because of maternal cell contamination, polyploidy, mosaicism, or balanced translocation.

Conclusions

MLPA technique is relatively low cost, less labor intensive and reduces waiting time with high accuracy compared with conventional cytogenetic analysis. Therefore, MLPA can be the first approach for chromosome analysis from pregnancy loss.

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Acknowledgments

This work was supported by Priority Research Centers Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2009-0093821).

Conflict of interest

All authors have nothing to disclose.

Author information

Affiliations

  1. Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea

    Ji Won Kim, Sang Woo Lyu & Tae Ki Yoon

  2. Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea

    Sae Ra Sung, Ji Eun Park & Sung Han Shim

  3. Department of Obstetrics and Gynecolocy, CHA Gangnam Medical Center, CHA University, Seoul, Korea

    Dong Hyun Cha

  4. Department of Biomedical Science, College of Life Science, CHA University, Seoul, Korea

    Jung Jae Ko

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  1. Ji Won Kim
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  2. Sang Woo Lyu
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Correspondence to Sung Han Shim.

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Kim, J.W., Lyu, S.W., Sung, S.R. et al. Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis. Arch Gynecol Obstet 291, 347–354 (2015). https://doi.org/10.1007/s00404-014-3403-5

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  • DOI: https://doi.org/10.1007/s00404-014-3403-5

Keywords

  • MLPA
  • G-banding chromosome analysis
  • Spontaneous abortion