GENETICS / RESEARCH LETTER
Extended application of BACs-on-Beads technique in prenatal diagnosis
| 1 | Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital),Weihai, China |
| 2 | Dong Guan Eontec Co., Ltd, Dongguan, Guangdong, China |
| 3 | Department of Otorhinolaryngology, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital),Weihai, China |
| 4 | School of Life and Pharmaceutical Sciences, Dalian University of Technology,Panjin, China |
CORRESPONDING AUTHOR
Xinqiang Lan
Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital),Weihai, 264200, Weihai, China
Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital),Weihai, 264200, Weihai, China
Submission date: 2022-09-11
Final revision date: 2022-10-15
Acceptance date: 2022-10-22
Online publication date: 2022-12-09
Publication date: 2023-01-01
Arch Med Sci 2023;19(1):250–257
KEYWORDS
TOPICS
ABSTRACT
Introduction:
This 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.
Material and methods:
Both 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.
Results:
Twenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.
Conclusions:
We believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.
This 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.
Material and methods:
Both 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.
Results:
Twenty-two cases were detected as microdeletion/microduplication with a single probe, which was consistent with the CMA results.
Conclusions:
We believe that the microdeletion/microduplication results detected by BoBs technique with a single probe provide comprehensive guidance for prenatal diagnosis.
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