title: Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception.
abstract: Background and Introduction: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA) offers advantage over karyotype in terms of lower failure rate, faster turnaround time, and much higher resolution than conventional karyotyping and found to be 98% concordant with conventional karyotype.
  
  
  OBJECTIVE
  We performed this study to look for the utility of MLPA in diagnosing chromosomal abnormalities in first-trimester abortions.
  
  
  METHODS
  MLPA using subtelomeric SALSA probe sets (P036 and P070) was used to detect cytogenetic abnormalities in products of conception in missed/spontaneous abortions.
  
  
  RESULTS
  A total of ninety abortus samples were analyzed by MLPA. Successful results were provided in (67) 74.4% of the cases while no conclusion could be drawn in 25.6% (23) of the cases. Fifty-five (82.1%) cases were cytogenetically normal and 17.9% (12) had some abnormality. Aneuploidy was detected in 8 (66.7%) cases, 3 (25%) had double-segment imbalance, and one (8.3%) had partial aneuploidy.
  
  
  CONCLUSIONS
  We suggest that MLPA is a good substitute to traditional karyotype.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: D
authors.initials: D
authors.lastname: Saxena
authors.affiliation: GenePath Dx Causeway Healthcare Ltd., Pune, Maharashtra, India.
authors.forename: M
authors.initials: M
authors.lastname: Agarwal
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: D
authors.initials: D
authors.lastname: Gupta
authors.affiliation: Department of Obstetrics and Gynaecology, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: S
authors.initials: S
authors.lastname: Agrawal
authors.affiliation: Department of Obstetrics and Gynaecology, King George's Medical University, Lucknow, Uttar Pradesh, India.
authors.forename: V
authors.initials: V
authors.lastname: Das
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: S R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000022:Abortion, Spontaneous / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D059785:Karyotype; D007621:Karyotyping; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies