ABSTRACT

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.

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