Original Investigation

Performance of MLPA as a screening method for aneuploidy in uncultured amniocytes


  • Hüseyin Yurdakul
  • Beyhan Durak
  • Muhammed Hamza Müslümanoğlu
  • Muhsin Özdemir
  • Oğuz Çilingir
  • Turgay Şener
  • Sevilhan Artan

Received Date: 05.11.2010 Accepted Date: 14.11.2010 J Turk Ger Gynecol Assoc 2010;11(4):199-203 PMID: 24591936


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.

Material and 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.


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.


MLPA is a rapid, simple and reliable assay for aneuploidy screening in uncultured amniocytes.

Keywords: MLPA, prenatal screening, common aneuploidies, uncultured amniocytes