• Arch Med Sci · Jan 2023

    Extended application of BACs-on-Beads technique in prenatal diagnosis.

    • Shiyu Sun, Zhonghua Zhang, Jing Zhao, and Xinqiang Lan.
    • Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), Weihai, China.
    • Arch Med Sci. 2023 Jan 1; 19 (1): 250257250-257.

    IntroductionThis study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.MethodsBoth chromosome karyotyping and BoBs technique were applied on a total of 2218 pregnant women. Chromosome microarray analysis (CMA) was performed on patients whose cells were reported as being abnormal by BoBs technique with a single probe.ResultsTwenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.ConclusionsWe believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.Copyright: © 2022 Termedia & Banach.

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