The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Abstract Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individu...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-01-01
|
| Series: | Human Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40246-024-00577-w |
| _version_ | 1797273903432728576 |
|---|---|
| author | Xue Zhang Qian Chen Junnan Li Xin Luo Jianyun Luo Jian Li Ziye Zeng Yan Wu Hua Zhang Yanling Dong |
| author_facet | Xue Zhang Qian Chen Junnan Li Xin Luo Jianyun Luo Jian Li Ziye Zeng Yan Wu Hua Zhang Yanling Dong |
| author_sort | Xue Zhang |
| collection | DOAJ |
| description | Abstract Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145 autosomal recessive and 10 X-linked recessive disorders. A total of 43.27% (1617/3737) were found to be carriers of at least one of the 155 monogenetic diseases. The average number of carriers of these recessive mutations was 0.54 and ranged from 0 to 4. Of the 1048 couples, 74.81% (n = 784) were found to have at least one partner carrying more than one disease. In addition, 5.34% of the couples at risk (n = 56) were heterozygous for the same autosomal recessive disease, and 0.37% of the women (9/2440) were carriers of X-linked diseases. Our study demonstrated the clinical significance of ECS in Chinese populations and the need for a programme of familial screening for the prevention of severe recessive monogenetic diseases. |
| first_indexed | 2024-03-07T14:50:47Z |
| format | Article |
| id | doaj.art-b0d2517d29ce432a9eb752804cc51abf |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-03-07T14:50:47Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-b0d2517d29ce432a9eb752804cc51abf2024-03-05T19:44:36ZengBMCHuman Genomics1479-73642024-01-011811810.1186/s40246-024-00577-wThe effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseasesXue Zhang0Qian Chen1Junnan Li2Xin Luo3Jianyun Luo4Jian Li5Ziye Zeng6Yan Wu7Hua Zhang8Yanling Dong9Department of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityDepartment of Obstetrics, The First Affiliated Hospital of Chongqing Medical UniversityAbstract Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145 autosomal recessive and 10 X-linked recessive disorders. A total of 43.27% (1617/3737) were found to be carriers of at least one of the 155 monogenetic diseases. The average number of carriers of these recessive mutations was 0.54 and ranged from 0 to 4. Of the 1048 couples, 74.81% (n = 784) were found to have at least one partner carrying more than one disease. In addition, 5.34% of the couples at risk (n = 56) were heterozygous for the same autosomal recessive disease, and 0.37% of the women (9/2440) were carriers of X-linked diseases. Our study demonstrated the clinical significance of ECS in Chinese populations and the need for a programme of familial screening for the prevention of severe recessive monogenetic diseases.https://doi.org/10.1186/s40246-024-00577-wExpanded screening carrierNext-generation sequencingMonogenic genetic diseases |
| spellingShingle | Xue Zhang Qian Chen Junnan Li Xin Luo Jianyun Luo Jian Li Ziye Zeng Yan Wu Hua Zhang Yanling Dong The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases Human Genomics Expanded screening carrier Next-generation sequencing Monogenic genetic diseases |
| title | The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
| title_full | The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
| title_fullStr | The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
| title_full_unstemmed | The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
| title_short | The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases |
| title_sort | effectiveness of expanded carrier screening based on next generation sequencing for severe monogenic genetic diseases |
| topic | Expanded screening carrier Next-generation sequencing Monogenic genetic diseases |
| url | https://doi.org/10.1186/s40246-024-00577-w |
| work_keys_str_mv | AT xuezhang theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT qianchen theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT junnanli theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT xinluo theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT jianyunluo theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT jianli theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT ziyezeng theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT yanwu theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT huazhang theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT yanlingdong theeffectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT xuezhang effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT qianchen effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT junnanli effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT xinluo effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT jianyunluo effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT jianli effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT ziyezeng effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT yanwu effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT huazhang effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases AT yanlingdong effectivenessofexpandedcarrierscreeningbasedonnextgenerationsequencingforseveremonogenicgeneticdiseases |