Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA).
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.
Gerdes
Tommy
T
Department of Clinical Genetics, Rigshospitalet, DK-2100 Copenhagen Ø, Denmark.
Kirchhoff
Maria
M
Lind
Anne-Marie
AM
Larsen
Gitte Vestergaard
GV
Schwartz
Marianne
M
Lundsteen
Claes
C
D000782:Aneuploidy; D002877:Chromosomes, Human / Q000235:genetics*; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D022521:Ligase Chain Reaction / Q000379:methods; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods