Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements
Abstract Background The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). Methods We implemented a robust approach, which combined whole-genome low-coverage mate-pair sequencing (WGL-MPS), junct...
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| Format: | Article |
| Language: | English |
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BMC
2020-02-01
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| Series: | Reproductive Biology and Endocrinology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12958-020-00572-5 |
| _version_ | 1828420135780614144 |
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| author | Jian Ou Chuanchun Yang Xiaoli Cui Chuan Chen Suyan Ye Cai Zhang Kai Wang Jianguo Chen Qin Zhang Chunfeng Qian Guangguang Fang Wenyong Zhang |
| author_facet | Jian Ou Chuanchun Yang Xiaoli Cui Chuan Chen Suyan Ye Cai Zhang Kai Wang Jianguo Chen Qin Zhang Chunfeng Qian Guangguang Fang Wenyong Zhang |
| author_sort | Jian Ou |
| collection | DOAJ |
| description | Abstract Background The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). Methods We implemented a robust approach, which combined whole-genome low-coverage mate-pair sequencing (WGL-MPS), junction-spanning PCR and preimplantation genetic testing for aneuploidy (PGT-A) method to provide accurate chromosome breakpoint junctional sequences in the embryo selection process in the setting of assisted reproduction for a couple with recurrent abortions due to CCRs. Result WGL-MPS was applied to a female carrying CCRs which consisted of 9 breakpoints and 1 cryptic deletion related to fertility risks. Sequencing data provided crucial information for designing junction-spanning PCR and PGT-A process, which was performed on the 11 embryos cultivated. One embryo was considered qualified for transplanting, which carried the exact same CCRs as the female carrier, whose phenotype was normal. The amniotic fluid was also investigated by WGL-MPS and karyotyping at 19 weeks’ gestation, which verified the results that the baby carried the same CCRs. A healthy baby was born at 39 weeks’ gestation by vaginal delivery. Conclusion(s) Our study illustrates the WGL-MPS approach combining with junction-spanning PCR and PGT-A is a powerful and practical method in the setting of assisted reproduction for couples with recurrent miscarriage due to chromosomal abnormalities, especially CCRs carriers. |
| first_indexed | 2024-12-10T15:06:37Z |
| format | Article |
| id | doaj.art-5635094f4ba04346bf95ffb92f81ddef |
| institution | Directory Open Access Journal |
| issn | 1477-7827 |
| language | English |
| last_indexed | 2024-12-10T15:06:37Z |
| publishDate | 2020-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Reproductive Biology and Endocrinology |
| spelling | doaj.art-5635094f4ba04346bf95ffb92f81ddef2022-12-22T01:44:02ZengBMCReproductive Biology and Endocrinology1477-78272020-02-011811710.1186/s12958-020-00572-5Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangementsJian Ou0Chuanchun Yang1Xiaoli Cui2Chuan Chen3Suyan Ye4Cai Zhang5Kai Wang6Jianguo Chen7Qin Zhang8Chunfeng Qian9Guangguang Fang10Wenyong Zhang11Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal HospitalCheerLand Biological Technology Co., LtdCheerLand Biological Technology Co., LtdCheerLand Biological Technology Co., LtdShenzhen Dapeng New District Maternity & Child Health Hospital Department of GynecologyCheerLand Biological Technology Co., LtdCheerLand Biological Technology Co., LtdCheerLand Biological Technology Co., LtdCenter for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal HospitalCenter for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal HospitalShenzhen Dapeng New District Maternity & Child Health Hospital Department of GynecologySouthern University of Science and Technology-CheerLand Institute of Precision MedicineAbstract Background The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). Methods We implemented a robust approach, which combined whole-genome low-coverage mate-pair sequencing (WGL-MPS), junction-spanning PCR and preimplantation genetic testing for aneuploidy (PGT-A) method to provide accurate chromosome breakpoint junctional sequences in the embryo selection process in the setting of assisted reproduction for a couple with recurrent abortions due to CCRs. Result WGL-MPS was applied to a female carrying CCRs which consisted of 9 breakpoints and 1 cryptic deletion related to fertility risks. Sequencing data provided crucial information for designing junction-spanning PCR and PGT-A process, which was performed on the 11 embryos cultivated. One embryo was considered qualified for transplanting, which carried the exact same CCRs as the female carrier, whose phenotype was normal. The amniotic fluid was also investigated by WGL-MPS and karyotyping at 19 weeks’ gestation, which verified the results that the baby carried the same CCRs. A healthy baby was born at 39 weeks’ gestation by vaginal delivery. Conclusion(s) Our study illustrates the WGL-MPS approach combining with junction-spanning PCR and PGT-A is a powerful and practical method in the setting of assisted reproduction for couples with recurrent miscarriage due to chromosomal abnormalities, especially CCRs carriers.http://link.springer.com/article/10.1186/s12958-020-00572-5Complex chromosomal rearrangementsBreakpoints mappingWhole-genome low-coverage mate-pair sequencingPreimplantation genetic testing for aneuploidyJunction-spanning PCR |
| spellingShingle | Jian Ou Chuanchun Yang Xiaoli Cui Chuan Chen Suyan Ye Cai Zhang Kai Wang Jianguo Chen Qin Zhang Chunfeng Qian Guangguang Fang Wenyong Zhang Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements Reproductive Biology and Endocrinology Complex chromosomal rearrangements Breakpoints mapping Whole-genome low-coverage mate-pair sequencing Preimplantation genetic testing for aneuploidy Junction-spanning PCR |
| title | Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements |
| title_full | Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements |
| title_fullStr | Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements |
| title_full_unstemmed | Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements |
| title_short | Successful pregnancy after prenatal diagnosis by NGS for a carrier of complex chromosome rearrangements |
| title_sort | successful pregnancy after prenatal diagnosis by ngs for a carrier of complex chromosome rearrangements |
| topic | Complex chromosomal rearrangements Breakpoints mapping Whole-genome low-coverage mate-pair sequencing Preimplantation genetic testing for aneuploidy Junction-spanning PCR |
| url | http://link.springer.com/article/10.1186/s12958-020-00572-5 |
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