Evaluation of two aneuploidy screening tests for chorionic villus samples: Multiplex ligation-dependent probe amplification and fluorescence in situ hybridization

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

“…We used FISH as a representative method to study the feasibility of establishing Levey-Jennings chart-based IQCs for monitoring molecular diagnostic quality, because FISH is widely used to detect aneuploidies after amniocentesis and to perform chromosome analysis of leukemic blood samples and other tissues [20][21][22][23][24]. In general, each clinical sample only includes one karyotype.…”

“…Compared with non-chimeric karyotypes, chimeric karyotypes are more common and are more easily misdiagnosed in prenatal diagnosis by FISH, particularly in individuals with a low proportion of multiple karyotypes [24][25][26]. Thus, considering that the accuracy of aneuploidy detection by FISH can be improved by increasing cell counts [20][21][22]27], and that quality-control cells containing different proportions of karyotypes can more accurately assess detection quality [26], we used 60 and 20% as the thresholds for aneuploidy detection [28,29]. We prepared high-, medium-, and low-value qualitycontrol cells (A-H) with aneuploidy ratios of 10, 30, 70, and 90%, respectively, to provide a relatively consistent ratio of chimeras to the common clinical samples with various karyotypes as the basis to establish an ideal IQC for prenatal molecular diagnosis by FISH [20][21][22][23][24].…”

“…Thus, considering that the accuracy of aneuploidy detection by FISH can be improved by increasing cell counts [20][21][22]27], and that quality-control cells containing different proportions of karyotypes can more accurately assess detection quality [26], we used 60 and 20% as the thresholds for aneuploidy detection [28,29]. We prepared high-, medium-, and low-value qualitycontrol cells (A-H) with aneuploidy ratios of 10, 30, 70, and 90%, respectively, to provide a relatively consistent ratio of chimeras to the common clinical samples with various karyotypes as the basis to establish an ideal IQC for prenatal molecular diagnosis by FISH [20][21][22][23][24]. Although the quality-control cells transfected with SV40LT are not identical to primary amniocytes and Phaseolus vulgaris-leucoagglutinin (PHA)-stimulated lymphocytes used for FISH quality control approaches in 26 laboratories [30], they have several advantages as IQCs.…”

An efficient method for immortalization of amniocytes with chromosome abnormalities for renewable application of rare disease sources

“…Amniocyte lines from the 10 th to 15 th generation of aneuploid primary cells (47, XY, +13 47, XXY) were harvested. The 13/21 dual-color and 18/X/Y tri-color probes were used to detect chromosomes 13, 18, 21, X, and Y in both the generated cell lines and primary cells [11,12]. The fluorescence signals in the generated cell lines and primary cells were compared.…”

“…Theoretically, cells of each of the contributing karyotypes account for 25% of the total. Then, three blinded technicians were used for the FISH procedure [11,12].…”