Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.
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| Title: | Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders. |
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| Authors: | Xiao B; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China., Liu H; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China., Sun Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China., Su X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China., Xie X; Department of Obstetrics and Gynecology, The First Medical Center of Chinese PLA General Hospital, Beijing, China., Xu Z; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, China., Ren F; Department of Laboratory Medicine, The Second Affiliated Hospital of Dalian Medical University, Liaoning, China., Peng Y; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China., Hui L; Medical Genetics Center/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu, China., Xu L; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fujian, China., Zhang C; Department of Medical Genetics, Yunnan Maternal and Child Health Hospital, Kunming, China., Duan J; Department of Obstetrics, Zhongnan Hospital of Wuhan University, Wuhan, China., Zhang J; Department of Assisted Reproductive Centre, The affiliated Zhuzhou Hospital Xiangya Medical College, Central South University, Zhuzhou, Hunan, China., Li J; Medical Laboratory Center, The First Hospital of Lanzhou University, Lanzhou, China., Xue S; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, China., Liao S; Medical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China., Liu L; Department of Medical Genetic and Prenatal Diagnosis, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhao Z; Maternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan, China., Yuan D; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China., Qiu J; Laboratory of Prenatal Diagnosis, Longhua Maternity and Child Healthcare Hospital, Shenzhen, Guangzhou, China., Zhang F; Department of Reproductive Genetics, Women & Infants Hospital of Zhengzhou, Zhengzhou, China., Huang Y; Prenatal Diagnosis Center, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China., Ha Y; Department of Prenatal Diagnosis, Yinchuan Maternal and Child Health Care Hospital, Yinchuan, Ningxia, China., Yu L; Central Laboratory, Guiyang Maternal and Child Health Care Hospital, Guiyang, China., Tang K; Genetic Eugenics Laboratory, Maternal and Child Health Hospital of Baoji, Baoji, China., Li X; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China., Pan W; Guizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China., Shu J; Center for Reproductive Medicine, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China., Zhu J; Medical Genetics Center, Anhui Women and Children's Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China., Meng L; Medical Genetics and Prenatal Diagnosis Center, Bijie Maternal and Child Health Hospital, Bijie, Guizhou, China., Xu C; Genetics Center, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China., Mao A; Department of Research and Development, Berry Genomics Corporation, Beijing, China., Yan N; Department of Medical Product and Support, Berry Genomics Corporation, Beijing, China., Yu Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China. yuyongguo@shsmu.edu.cn. |
| Corporate Authors: | Chinese Medical Doctor Association of Genetics Counselling Board |
| Source: | Genome medicine [Genome Med] 2026 Apr 24; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 24. |
| Publication Type: | Journal Article; Multicenter Study |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42026640 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Xiao+B%22">Xiao B</searchLink>; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China.<br /><searchLink fieldCode="AU" term="%22Liu+H%22">Liu H</searchLink>; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.<br /><searchLink fieldCode="AU" term="%22Sun+Y%22">Sun Y</searchLink>; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China.<br /><searchLink fieldCode="AU" term="%22Su+X%22">Su X</searchLink>; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China.<br /><searchLink fieldCode="AU" term="%22Xie+X%22">Xie X</searchLink>; Department of Obstetrics and Gynecology, The First Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Xu+Z%22">Xu Z</searchLink>; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, China.<br /><searchLink fieldCode="AU" term="%22Ren+F%22">Ren F</searchLink>; Department of Laboratory Medicine, The Second Affiliated Hospital of Dalian Medical University, Liaoning, China.<br /><searchLink fieldCode="AU" term="%22Peng+Y%22">Peng Y</searchLink>; Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Hui+L%22">Hui L</searchLink>; Medical Genetics Center/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-care Hospital (Gansu Provincial Central Hospital), Lanzhou, Gansu, China.<br /><searchLink fieldCode="AU" term="%22Xu+L%22">Xu L</searchLink>; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fujian, China.<br /><searchLink fieldCode="AU" term="%22Zhang+C%22">Zhang C</searchLink>; Department of Medical Genetics, Yunnan Maternal and Child Health Hospital, Kunming, China.<br /><searchLink fieldCode="AU" term="%22Duan+J%22">Duan J</searchLink>; Department of Obstetrics, Zhongnan Hospital of Wuhan University, Wuhan, China.<br /><searchLink fieldCode="AU" term="%22Zhang+J%22">Zhang J</searchLink>; Department of Assisted Reproductive Centre, The affiliated Zhuzhou Hospital Xiangya Medical College, Central South University, Zhuzhou, Hunan, China.<br /><searchLink fieldCode="AU" term="%22Li+J%22">Li J</searchLink>; Medical Laboratory Center, The First Hospital of Lanzhou University, Lanzhou, China.<br /><searchLink fieldCode="AU" term="%22Xue+S%22">Xue S</searchLink>; Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, China.<br /><searchLink fieldCode="AU" term="%22Liao+S%22">Liao S</searchLink>; Medical Genetics Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Liu+L%22">Liu L</searchLink>; Department of Medical Genetic and Prenatal Diagnosis, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhao+Z%22">Zhao Z</searchLink>; Maternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan, China.<br /><searchLink fieldCode="AU" term="%22Yuan+D%22">Yuan D</searchLink>; Department of Medical Genetics, Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China.<br /><searchLink fieldCode="AU" term="%22Qiu+J%22">Qiu J</searchLink>; Laboratory of Prenatal Diagnosis, Longhua Maternity and Child Healthcare Hospital, Shenzhen, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+F%22">Zhang F</searchLink>; Department of Reproductive Genetics, Women & Infants Hospital of Zhengzhou, Zhengzhou, China.<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Prenatal Diagnosis Center, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.<br /><searchLink fieldCode="AU" term="%22Ha+Y%22">Ha Y</searchLink>; Department of Prenatal Diagnosis, Yinchuan Maternal and Child Health Care Hospital, Yinchuan, Ningxia, China.<br /><searchLink fieldCode="AU" term="%22Yu+L%22">Yu L</searchLink>; Central Laboratory, Guiyang Maternal and Child Health Care Hospital, Guiyang, China.<br /><searchLink fieldCode="AU" term="%22Tang+K%22">Tang K</searchLink>; Genetic Eugenics Laboratory, Maternal and Child Health Hospital of Baoji, Baoji, China.<br /><searchLink fieldCode="AU" term="%22Li+X%22">Li X</searchLink>; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Pan+W%22">Pan W</searchLink>; Guizhou Prenatal Diagnosis Center, Affiliated Hospital of Guizhou Medical University, Guiyang, Guizhou, China.<br /><searchLink fieldCode="AU" term="%22Shu+J%22">Shu J</searchLink>; Center for Reproductive Medicine, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.<br /><searchLink fieldCode="AU" term="%22Zhu+J%22">Zhu J</searchLink>; Medical Genetics Center, Anhui Women and Children's Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University, Hefei, China.<br /><searchLink fieldCode="AU" term="%22Meng+L%22">Meng L</searchLink>; Medical Genetics and Prenatal Diagnosis Center, Bijie Maternal and Child Health Hospital, Bijie, Guizhou, China.<br /><searchLink fieldCode="AU" term="%22Xu+C%22">Xu C</searchLink>; Genetics Center, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Mao+A%22">Mao A</searchLink>; Department of Research and Development, Berry Genomics Corporation, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yan+N%22">Yan N</searchLink>; Department of Medical Product and Support, Berry Genomics Corporation, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Yu+Y%22">Yu Y</searchLink>; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Room 801, Sci & Edu Bldg, 1665 Kong Jiang Road, Shanghai, 200092, China. yuyongguo@shsmu.edu.cn. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Chinese+Medical+Doctor+Association+of+Genetics+Counselling+Board%22">Chinese Medical Doctor Association of Genetics Counselling Board</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Apr 24; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Apr 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Multicenter Study – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42026640 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-026-01628-8 Languages: – Code: eng Text: English Titles: – TitleFull: Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Xiao B – PersonEntity: Name: NameFull: Liu H – PersonEntity: Name: NameFull: Sun Y – PersonEntity: Name: NameFull: Su X – PersonEntity: Name: NameFull: Xie X – PersonEntity: Name: NameFull: Xu Z – PersonEntity: Name: NameFull: Ren F – PersonEntity: Name: NameFull: Peng Y – PersonEntity: Name: NameFull: Hui L – PersonEntity: Name: NameFull: Xu L – PersonEntity: Name: NameFull: Zhang C – PersonEntity: Name: NameFull: Duan J – PersonEntity: Name: NameFull: Zhang J – PersonEntity: Name: NameFull: Li J – PersonEntity: Name: NameFull: Xue S – PersonEntity: Name: NameFull: Liao S – PersonEntity: Name: NameFull: Liu L – PersonEntity: Name: NameFull: Zhao Z – PersonEntity: Name: NameFull: Yuan D – PersonEntity: Name: NameFull: Qiu J – PersonEntity: Name: NameFull: Zhang F – PersonEntity: Name: NameFull: Huang Y – PersonEntity: Name: NameFull: Ha Y – PersonEntity: Name: NameFull: Yu L – PersonEntity: Name: NameFull: Tang K – PersonEntity: Name: NameFull: Li X – PersonEntity: Name: NameFull: Pan W – PersonEntity: Name: NameFull: Shu J – PersonEntity: Name: NameFull: Zhu J – PersonEntity: Name: NameFull: Meng L – PersonEntity: Name: NameFull: Xu C – PersonEntity: Name: NameFull: Mao A – PersonEntity: Name: NameFull: Yan N – PersonEntity: Name: NameFull: Yu Y IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 04 Text: 2026 Apr 24 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1756-994X Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Genome medicine Type: main |
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