open access

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).

open access

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.

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.
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Keywords

prenatal diagnosis, aneuploidy, MLPA technique

About this article
Title

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

Journal

Ginekologia Polska

Issue

Vol 82, No 9 (2011)

Bibliographic record

Ginekol Pol 2011;82(9).

Keywords

prenatal diagnosis
aneuploidy
MLPA technique

Authors

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

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