[Usefulness of MLPA technique for rapid prenatal detection of aneuploidy. Results of 409 diagnostic studies]. / Przydatnosc metody MLPA do szybkiej prenatalnej identyfikacji aneuploidii. Wyniki 409 badan diagnostycznych.

OBJECTIVES: The study was aimed to determine diagnostic application of MLPA for rapid prenatal identification of chromosome 13, 18, 21 and X and Y aneuploidies. MATERIAL AND METHODS: 409 amniotic fluid samples from amniocentesis for fetal karyotyping were studied. DNA was isolated using the QIAmp DNA Blood Midi Kit (348 samples) or through proteinase K treatment (61 samples). SALSA MLPA P095 probes (mrc-Holland) were used to detect aneuploidy RESULTS: In 324 studies (79.2%) diagnostic results were obtained. Chromosomal aberrations were found in 16 cases (4.9%). These results were concordant with standard karyotype. In 3 cases (0.92%) false negative results were found but all abnormalities were undetectable with MLPA. CONCLUSIONS: MLPA is a reliable method of rapid prenatal detection of aneuploidy