Usefulness of MLPA technique for rapid prenatal detection of aneuploidy. Results of 409 diagnostic studies

Ewa Bocian; Justyna Kasprzycka; Krystyna Jakubów-Durska; Alicja Łuszczek; Joanna Bernaciak

Vol 82, No 9 (2011)

ARTICLES

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Usefulness of MLPA technique for rapid prenatal detection of aneuploidy. Results of 409 diagnostic studies

Ewa Bocian, Justyna Kasprzycka, Krystyna Jakubów-Durska, Alicja Łuszczek, Joanna Bernaciak

Ginekol Pol 2011;82(9).

Vol 82, No 9 (2011)

ARTICLES

Abstract

Abstract 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.