title: Molecular analysis of miscarriage products using multiplex ligation-dependent probe amplification (MLPA): alternative to conventional karyotype analysis.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Ji Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Sang Woo
authors.initials: SW
authors.lastname: Lyu
authors.forename: Se Ra
authors.initials: SR
authors.lastname: Sung
authors.forename: Sae Ra
authors.initials: SR
authors.lastname: Sung
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Park
authors.forename: Dong Hyun
authors.initials: DH
authors.lastname: Cha
authors.forename: Tae Ki
authors.initials: TK
authors.lastname: Yoon
authors.forename: Jung Jae
authors.initials: JJ
authors.lastname: Ko
authors.forename: Sung Han
authors.initials: SH
authors.lastname: Shim
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D002869:Chromosome Aberrations; D003430:Cross-Sectional Studies; D004311:Double-Blind Method; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D011123:Polyploidy; D011247:Pregnancy; D011446:Prospective Studies; D012189:Retrospective Studies