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

Autor: Ewa, Bocian, Justyna, Kasprzycka, Krystyna, Jakubów-Durska, Alicja, Łuszczek, Joanna, Bernaciak
Rok vydání: 2012
Předmět:
Zdroj: Ginekologia polska. 82(9)
ISSN: 0017-0011
Popis: The study was aimed to determine diagnostic application of MLPA for rapid prenatal identification of chromosome 13, 18, 21 and X and Y aneuploidies.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 aneuploidyIn 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.MLPA is a reliable method of rapid prenatal detection of aneuploidy
Databáze: OpenAIRE