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

作者：Bocian Ewa^*; Kasprzycka Justyna; Jakubow Durska Krystyna; Luszczek Alicja; Bernaciak Joanna

来源：Ginekologia Polska, 2011, 82(9): 680-684.

• prenatal diagnosis
• aneuploidy
• MLPA technique

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.

• 出版日期2011-9