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1: Eur J Hum Genet. 2005 Feb;13(2):171-5.Click here to read Links

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).

Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C.

Department of Clinical Genetics, Rigshospitalet, DK-2100 Copenhagen Ø, Denmark.

In routine prenatal diagnostics we used a commercial multiplex ligation-dependent probe amplification (MLPA) kit for aneuploidy screening for chromosomes 13, 18, 21, X and Y. We present the results of 1593 consecutive prenatal samples analysed and diagnosed prior to knowledge of the G-banding analysis during 8-month routine use of computer-assisted MLPA aneuploidy screening. In total, 27 aneuploidies were detected. There were no false positive results while two false negative results could be explained by a placental mosaicism and a partial monosomy, respectively. In total, 3.2% of the samples were inconclusive. We conclude that automatic computer assisted MLPA is a rapid, simple and reliable method for detection of aneuploidies in prenatal diagnostics.

PMID: 15483643 [PubMed - indexed for MEDLINE]