A novel use for Levey-Jennings charts in prenatal molecular diagnosis

Abstract

Background: The goal of this study was to determine whether Levey-Jennings charts, which are widely used in clinical laboratories, can be used to create standardized internal quality controls (IQCs) for prenatal molecular diagnosis. Methods: Aneuploid amniocyte lines with trisomy 13, 21, and 18, and 47,XXY were established by transfection with SV40LTag-pcDNA3.1(−)and combined at different ratios to generate aneuploidy chimeric quality-control cell mixtures A to H. These quality-control cells were then used to calculate the X, X ±1 standard deviation (SD), X ±2 SD, and X ±3 SD values to develop standardized IQCs for methods used for the prenatal diagnosis of aneuploidies such as FISH. Results: Methods for constructing aneuploid amniocyte lines were developed and a set of quality-control cells (A-H) were prepared. The X ±1 SD, X ±2 SD, and X ±3 SD values of these quality-control cells for trisomy 13 and 21