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Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.

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Title: Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.
Authors: Zhu Y; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; Obstetrics and Gynecology Medical Center, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School,Nanjing University, Nanjing, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China., Chau MHK; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China., Wang H; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; Maternal-Fetal Medicine Institute, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Bao'an Maternity and Child Health Hospital affiliated to Jinan University School of Medicine, Shenzhen, China., Song N; Hangzhou Diagens Biotechnology Co., Ltd., Hangzhou, China., Wei R; Hangzhou Diagens Biotechnology Co., Ltd., Hangzhou, China., Suen KW; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China., Chan ACS; Department of Obstetrics & Gynaecology, Prince of Wales Hospital, Hong Kong SAR,, China., Hung WC; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China., Cao Y; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China., Dong Z; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China., Leung TY; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China., Cheung SW; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Choy KW; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China. richardchoy@cuhk.edu.hk.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China. richardchoy@cuhk.edu.hk.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.; Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.
Source: Human genetics [Hum Genet] 2025 Dec; Vol. 144 (11-12), pp. 1269-1276. Date of Electronic Publication: 2025 Nov 10.
Publication Type: Journal Article; Review
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Zhu+Y%22">Zhu Y</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; Obstetrics and Gynecology Medical Center, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School,Nanjing University, Nanjing, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.<br /><searchLink fieldCode="AU" term="%22Chau+MHK%22">Chau MHK</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; Maternal-Fetal Medicine Institute, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Bao'an Maternity and Child Health Hospital affiliated to Jinan University School of Medicine, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Song+N%22">Song N</searchLink>; Hangzhou Diagens Biotechnology Co., Ltd., Hangzhou, China.<br /><searchLink fieldCode="AU" term="%22Wei+R%22">Wei R</searchLink>; Hangzhou Diagens Biotechnology Co., Ltd., Hangzhou, China.<br /><searchLink fieldCode="AU" term="%22Suen+KW%22">Suen KW</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Chan+ACS%22">Chan ACS</searchLink>; Department of Obstetrics & Gynaecology, Prince of Wales Hospital, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Hung+WC%22">Hung WC</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Cao+Y%22">Cao Y</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Dong+Z%22">Dong Z</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Leung+TY%22">Leung TY</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China.<br /><searchLink fieldCode="AU" term="%22Cheung+SW%22">Cheung SW</searchLink>; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Choy+KW%22">Choy KW</searchLink>; Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.; The Obstetric and Paediatric Center [Shenzhen] under Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Shenzhen,, China. richardchoy@cuhk.edu.hk.; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China. richardchoy@cuhk.edu.hk.; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.; Fertility Preservation Research Center, Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR,, China. richardchoy@cuhk.edu.hk.
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        Value: 10.1007/s00439-025-02789-z
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