Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China.Methods: Medical exome sequencing (...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.943058/full |
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| author | Keya Tong Keya Tong Wenbin He Wenbin He Wenbin He Yao He Yao He Yao He Xiurong Li Liang Hu Hao Hu Guangxiu Lu Guangxiu Lu Guangxiu Lu Ge Lin Ge Lin Ge Lin Chang Dong Victor Wei Zhang Juan Du Juan Du Juan Du Dongyun Liu Dongyun Liu Dongyun Liu |
| author_facet | Keya Tong Keya Tong Wenbin He Wenbin He Wenbin He Yao He Yao He Yao He Xiurong Li Liang Hu Hao Hu Guangxiu Lu Guangxiu Lu Guangxiu Lu Ge Lin Ge Lin Ge Lin Chang Dong Victor Wei Zhang Juan Du Juan Du Juan Du Dongyun Liu Dongyun Liu Dongyun Liu |
| author_sort | Keya Tong |
| collection | DOAJ |
| description | Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China.Methods: Medical exome sequencing (MES), including 4,158 disease-causing genes, was offered to couples at two reproductive centers. It was initially used as a diagnostic yield for potential patients and then used for ECS. Clinical information and ECS results were retrospectively collected.Results: A total of 2,234 couples, representing 4,468 individuals, underwent MES. In total, 254 individuals showed genetic disease symptoms, and 56 of them were diagnosed with genetic diseases by MES. Overall, 94.5% of them were carriers of at least one disease-causing variant. The most prevalent genes were GJB2 for autosomal recessive disorders and G6PD for X-linked diseases. The ARC rate was 9.80%, and couples were inclined to undergo preimplantation genetic testing when diseases were classified as “profound” or “severe.”Conclusion: This study provided insight to establish a suitable ECS gene panel for the Chinese population. Disease severity significantly influenced reproductive decision-making. The results highlighted the importance of conducting ECS for couples before undergoing assisted reproductive technology. |
| first_indexed | 2024-04-14T03:03:03Z |
| format | Article |
| id | doaj.art-b7828bc65bd448569033da199da3ed18 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-14T03:03:03Z |
| publishDate | 2022-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-b7828bc65bd448569033da199da3ed182022-12-22T02:15:51ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-08-011310.3389/fgene.2022.943058943058Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in ChinaKeya Tong0Keya Tong1Wenbin He2Wenbin He3Wenbin He4Yao He5Yao He6Yao He7Xiurong Li8Liang Hu9Hao Hu10Guangxiu Lu11Guangxiu Lu12Guangxiu Lu13Ge Lin14Ge Lin15Ge Lin16Chang Dong17Victor Wei Zhang18Juan Du19Juan Du20Juan Du21Dongyun Liu22Dongyun Liu23Dongyun Liu24Center for Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Human Embryo Engineering, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaSchool of Basic Medical Science, Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, ChinaGenetics Centre, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, ChinaCenter for Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Human Embryo Engineering, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaChongqing Clinical Research Center for Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaSchool of Basic Medical Science, Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, ChinaGenetics Centre, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaSchool of Basic Medical Science, Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, ChinaGenetics Centre, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, ChinaAmCare Genomics Lab, Guangzhou, ChinaAmCare Genomics Lab, Guangzhou, ChinaNational Engineering and Research Center of Human Stem Cells, Changsha, ChinaSchool of Basic Medical Science, Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, ChinaGenetics Centre, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, ChinaCenter for Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaChongqing Key Laboratory of Human Embryo Engineering, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaChongqing Clinical Research Center for Reproductive Medicine, Women and Children’s Hospital of Chongqing Medical University, Chongqing, ChinaPurpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China.Methods: Medical exome sequencing (MES), including 4,158 disease-causing genes, was offered to couples at two reproductive centers. It was initially used as a diagnostic yield for potential patients and then used for ECS. Clinical information and ECS results were retrospectively collected.Results: A total of 2,234 couples, representing 4,468 individuals, underwent MES. In total, 254 individuals showed genetic disease symptoms, and 56 of them were diagnosed with genetic diseases by MES. Overall, 94.5% of them were carriers of at least one disease-causing variant. The most prevalent genes were GJB2 for autosomal recessive disorders and G6PD for X-linked diseases. The ARC rate was 9.80%, and couples were inclined to undergo preimplantation genetic testing when diseases were classified as “profound” or “severe.”Conclusion: This study provided insight to establish a suitable ECS gene panel for the Chinese population. Disease severity significantly influenced reproductive decision-making. The results highlighted the importance of conducting ECS for couples before undergoing assisted reproductive technology.https://www.frontiersin.org/articles/10.3389/fgene.2022.943058/fullexpanded carrier screeningHan Chinese ethnicityassisted reproductive technologypreimplantation genetic testingclinical utility |
| spellingShingle | Keya Tong Keya Tong Wenbin He Wenbin He Wenbin He Yao He Yao He Yao He Xiurong Li Liang Hu Hao Hu Guangxiu Lu Guangxiu Lu Guangxiu Lu Ge Lin Ge Lin Ge Lin Chang Dong Victor Wei Zhang Juan Du Juan Du Juan Du Dongyun Liu Dongyun Liu Dongyun Liu Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China Frontiers in Genetics expanded carrier screening Han Chinese ethnicity assisted reproductive technology preimplantation genetic testing clinical utility |
| title | Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China |
| title_full | Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China |
| title_fullStr | Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China |
| title_full_unstemmed | Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China |
| title_short | Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China |
| title_sort | clinical utility of medical exome sequencing expanded carrier screening for patients seeking assisted reproductive technology in china |
| topic | expanded carrier screening Han Chinese ethnicity assisted reproductive technology preimplantation genetic testing clinical utility |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.943058/full |
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