Rapid detection of chromosome number aberration in spontaneously aborted fetuses using fluorescence in situ hybridization / 南方医科大学学报

<p><b>OBJECTIVE</b>To assess the value of fluorescence in situ hybridization (FISH) in the diagnosis of common chromosome number aberration in spontaneously aborted fetuses.</p><p><b>METHOD</b>A total of 100 spontaneously aborted fetuses were analyzed by G-banding and by FISH to test chromosome number aberration mainly for chromosomes 13, 18, 21, X and Y, and the results of FISH test was assessed according to those by G-banding test.</p><p><b>RESULTS</b>FISH results were well consistent with those by G-banding test. FISH test identified trisomy in 32 samples and polyploidy in 7 samples. Two samples with cell culture failure were found to have trisomy 16 by FISH. Discrepancies in the results between the two tests occurred in 3 samples, but the results of FISH were verified by other methods. Kappa test between FISH technology and G-banding showed a good consistency between FISH and karyotyping (P<0.05).</p><p><b>CONCLUSION</b>FISH is an effective and rapid method for detecting chromosome number aberration in spontaneously aborted fetuses, and the combination of FISH and karyotyping provides more reliable diagnostic evidence.</p>

Clinical application of SYBR Green I real-time fluorescence quantitative PCR for diagnosis of common chromosome aneuploidy / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the value of real-time fluorescence quantitative PCR in the diagnosis of chromosome anepuploidy.</p><p><b>METHODS</b>ABCC4 gene on chromosome 13, TYMS gene on chromosome 18, DSCR3 gene on chromosome 21, HPRT2 gene on chromosome X, and SRY gene on Y chromosome were used as the target genes, with GAPDH gene on chromosome 12 as the control gene. Using double-standard curve fluorescent relative quantitative PCR method with SYBR Green as the fluorescent dye, the gene expression levels were detected and the results were compared with those of karyotype analysis.</p><p><b>RESULTS</b>The ratio of the target gene on chromosome 13 to the control gene showed a significant difference between the normal karyotype group (0.90 - or + 0.31) and trisome group (1.39 - or + 0.12, P=0.003), and the genes on chromosome 18 (1.07 - or + 0.44 vs 1.66 - or + 0.12, P=0.000) and chromosome 21 (0.84 - or + 0.27 vs 1.73 - or + 0.54, P=0.000) showed similar results. The expression of the genes on the X chromosome showed no significant difference between 45, X group and 46,XY group (0.62 - or + 0.12 vs 0.63 - or + 0.25, P=0.965), nor between 46, XX group and 47,XXY group (1.32 - or + 0.37 vs 1.20 - or + 0.35, P=0.326), while a significant difference was noted between the single copy X (including 45,X and 46,XY) and two copies X (46,XX and 47,XXY) (0.63 - or + 0.23 vs 1.26 - or + 0.36, P=0.000). The expression of the target gene on the Y chromosome was not detected in normal females (46,XX), and a significant difference in the expression was found between normal male group (46,XY) and 47,XYY group (1.57 - or + 0.54 vs 3.08 - or + 0.15, P=0.003).</p><p><b>CONCLUSION</b>SYBR Green I real-time fluorescence quantitative PCR can be used for the purpose of rapid diagnosis of chromosome aneuploidy.</p>

Chorionic villus cell culture and karyotype analysis in 110 cases of early spontaneous abortion / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the value of fetal chromosomal karyotype analysis in cases of early spontaneous abortion.</p><p><b>METHODS</b>Chorionic villus specimens obtained from 110 cases of early spontaneous abortion were cultured for karyotype analysis.</p><p><b>RESULTS</b>Of the 110 cases, chorionic villus was successfully cultured in 103 cases (93.7%), and abnormal embryo karyotypes were identified in 52 cases (50.5%). Trisomy was the most frequent embryo karyotype abnormalities in these cases, and chromosomal aberration occurred in 29 cases (52.9%) of the first spontaneous abortion and in 23 cases (42.6%) of repeated abortions. Female fetuses accounted for 75.5% (78 cases) in the spontaneously aborted fetuses and for 67.3% (35 cases) in fetuses with chromosomal abnormalities.</p><p><b>CONCLUSION</b>Embryo chromosomal abnormality is the most important reason of early spontaneous abortion, and karyotype analysis of the villus helps identify the causes of abortion and ensure the success of the next pregnancy.</p>