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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Ou, Jian Yang, Chuanchun Cui, Xiaoli Chen, Chuan Ye, Suyan Zhang, Cai Wang, Kai Chen, Jianguo Zhang, Qin Qian, Chunfeng Fang, Guangguang Zhang, Wenyong |
| 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. |
| Related Links | https://rbej.biomedcentral.com/counter/pdf/10.1186/s12958-020-00572-5.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14777827 |
| DOI | 10.1186/s12958-020-00572-5 |
| Journal | Reproductive Biology and Endocrinology |
| Issue Number | 1 |
| Volume Number | 18 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-02-29 |
| Access Restriction | Open |
| Subject Keyword | Reproductive Medicine Endocrinology Complex chromosomal rearrangements Breakpoints mapping Whole-genome low-coverage mate-pair sequencing Preimplantation genetic testing for aneuploidy Junction-spanning PCR |
| Content Type | Text |
| Resource Type | Article |
| Subject | Endocrinology Obstetrics and Gynecology Developmental Biology Reproductive Medicine |
| Journal Impact Factor | 4.2/2023 |
| 5-Year Journal Impact Factor | 5.3/2023 |
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