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OBJECTIVE@#To explore the value of BACs-on-Beads (BoBs) for the practice of prenatal diagnosis.@*METHODS@#The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared. Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis (CMA) with informed consent from patients.@*RESULTS@#BoBs has detected 46 cases of common aneuploidies involving chromosomes 13, 18, and 21, and 16 cases involving X and Y chromosomes. For 4 fetuses with normal results by BoBs, karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms (< 20%). BoBs has detected none of the 9 common microdeletions, but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications. In 10 cases, the couples had chosen CMA verification, and the results were all consistent.@*CONCLUSION@#As a rapid diagnostic technique, BoBs has a high accuracy for common aneuploidies, and is capable of discovering certain chromosome microdeletions and microduplications. The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.
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Objective To investigate the clinical features of initially treated pulmonary tuberculosis(TB)patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive.Methods Forty two initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive were included as the study group and 42 initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody as the control group The aspects of clinical symptoms,X-ray imaging manifestations,positive rate in sputum culture of Mycobacterium tuberculosis and rifampin dependent mycobacterium tuberculosis,treatment effects,etc.were compared between the two groups.Results The incidence rates of expectoration,hemoptysis and shortness of breath in the study group were significantly higher than those in the control group(P＜0.05);the X-ray image manifestations in the study group showed that the lesions were much more involved in two lungs and multiple lung fields(P＜0.05),while thlesions in the control group more confined to single lung and one lung field(P＜ 0.05),moreover the rate appearing pulmonary cavity in the study group was higher than that in the control group(P＜0.05);the sputum culture positive rate of Mycobacterium tuberculosis had no statistical difference between the two groups(P＞0.05),but the sputum culture positive rate of rifampin dependent mycobacterium tuberculosis in the study group was significantly higher than that in the control group(P＜0.05);as for the treatment effects,the cure rate in the control group was higher than that in the study group(P＜0.05),the ineffective ratio in the control group was less than that in the study group.Conclusion Initially treated pulmonary TB patients with rifampin dependent mycobacterium tuberculosis Rv0341 antibody positive have the characteristics of severe clinical symptoms,wide range lesions,easily appearing cavity,high culture positive rate of rifampin dependent mycobacterium tuberculosis and poor treatment effect.