title: Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes.
abstract: OBJECTIVE
  To test whether the Multiplex Ligation-dependent Probe Amplification (MLPA) technique can be used as a screening test for rapid diagnosis of aneuploidies in uncultured amniocentesis.
  
  
  METHODS
  In this prospective blind study, MLPA with chromosomes 13,18,21,X and Y specific probe mixes was performed in 500 amniotic fluid samples. Chromosome copy numbers were determined by analyzing size and peak area for each MLPA probe. Results were compared with those of karyotyping/FISH.
  
  
  RESULTS
  Conclusive test results were obtained in 98% of the samples, whereas 10 were inconclusive. In all conclusive tests, the MLPA results were concordant with that of cytogenetic and/or FISH analyses. There were no false-positive results. A case with 69,XXX triploidy could not be diagnosed by MLPA. In total, 28 aneuploidies were diagnosed. There were no false-positive results. The performance of each probe was determined.
  
  
  CONCLUSIONS
  MLPA is a rapid, simple and reliable assay for aneuploidy screening in uncultured amniocytes.
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Yurdakul
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Beyhan
authors.initials: B
authors.lastname: Durak
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Muhammed Hamza
authors.initials: MH
authors.lastname: Müslümanoğlu
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Muhsin
authors.initials: M
authors.lastname: Ozdemir
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Oğuz
authors.initials: O
authors.lastname: Cilingir
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Turgay
authors.initials: T
authors.lastname: Sener
authors.affiliation: Department of Medical Genetics, School of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey.
authors.forename: Sevilhan
authors.initials: S
authors.lastname: Artan
keywords: MLPA; common aneuploidies; prenatal screening; uncultured amniocytes