Bocian Ewa, Kasprzycka Justyna, Jakubów-Durska Krystyna, Łuszczek Alicja, Bernaciak Joanna
Zakład Genetyki Medycznej, Instytut Matki i Dziecka w Warszawie, Polska.
Ginekol Pol. 2011 Sep;82(9):680-4.
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 aneuploidy
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.
MLPA is a reliable method of rapid prenatal detection of aneuploidy
本研究旨在确定多重连接依赖探针扩增技术（MLPA）在快速产前鉴定13、18、21号染色体以及X和Y染色体非整倍体方面的诊断应用。
对409例用于胎儿核型分析的羊水穿刺样本进行研究。使用QIAmp DNA Blood Midi试剂盒（348例样本）或通过蛋白酶K处理（61例样本）分离DNA。采用SALSA MLPA P095探针（mrc-Holland）检测非整倍体。
在324例研究（79.2%）中获得了诊断结果。发现16例（4.9%）存在染色体畸变。这些结果与标准核型一致。发现3例（0.92%）假阴性结果，但MLPA均未检测到所有异常。
MLPA是一种可靠的快速产前检测非整倍体的方法
