title: Aneuploidies detection in miscarriages and fetal deaths using multiplex ligation-dependent probe amplification: an alternative for speeding up results?
abstract: OBJECTIVE
  The aim of this prospective study was to apply the MLPA technique to products of miscarriages and fetal deaths in order to detect the more frequent chromosome aneuploidies and compare the results to conventional karyotyping.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification (MLPA) is a relatively new molecular technique for targeted detection of common chromosomal aneuploidies, namely trisomy 13, 18, 21 and sex chromosomal abnormalities. The reliability and high accuracy of this technique constitute an alternative for rapid results in large scale testing. In this study, a total of 489 DNA samples from fetal tissue were used for aneuploidy detection of chromosomes 13, 18, 21, X and Y using a commercial MLPA kit (SALSA P095) and were simultaneously subjected to conventional karyotyping.
  
  
  RESULTS
  MLPA was the only result available in 33% of the cases. A cytogenetic result was obtained in only 328/489 samples. MLPA detected 7.8% of chromosome aneuploidies. Among the total samples karyotyped, MLPA failed to detect some aneuploidies and the false-negative rate was 0.82%. As expected, ploidy changes and reciprocal translocations were not detected by this technique, but MLPA gave a conclusive result even in cases of mosaicism.
  
  
  CONCLUSIONS
  The present data confirm that MLPA is a rapid, simple and reliable method for detection of chromosome 13, 18, 21, X and Y abnormalities in fetal tissue.
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal.
authors.forename: Berta
authors.initials: B
authors.lastname: Carvalho
authors.forename: Sofia
authors.initials: S
authors.lastname: Dória
authors.forename: Carla
authors.initials: C
authors.lastname: Ramalho
authors.forename: Otília
authors.initials: O
authors.lastname: Brandão
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
authors.forename: Alexandra
authors.initials: A
authors.lastname: Matias
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011247:Pregnancy; D011446:Prospective Studies; D014314:Trisomy / Q000175:diagnosis