| Autor: |
Ih-Jane Yang, Yi-An Tu, Song-Po Pan, Ting-Chi Huang, Chih-Ling Chen, Ming-Wei Lin, Yi-Yi Tsai, Yi-Lin Yao, Yi-Ning Su, Shee-Uan Chen |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 1, Pp 174-179 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1028-4559 |
| DOI: |
10.1016/j.tjog.2021.11.030 |
| Popis: |
Objective: Beckwith-Wiedemann syndrome (BWS) is a rare imprinting gene disorder. Maternal CDKN1C mutation comprises 5% of etiologies of BWS. There is no successful report of preventing BWS by preimplantation genetic testing for monogenic disease (PGT-M) in the literature. Is PGT-M applicable for preventing BWS ? Case report: This 39-year-old woman conceived naturally and delivered a boy who was diagnosed of BWS. The genetic testing of her son revealed CDKN1C gene mutation, and of the mother showed a carrier of the same mutation. She underwent controlled ovarian stimulation, oocyte pickup, and intracytoplasmic sperm injection. Trophectoderm biopsies were performed and samples were checked for PGT. Two wild-type and euploid embryos were thawed and transferred. One intrauterine pregnancy was achieved. The patient delivered a healthy female baby at 37 weeks of gestation. Conclusion: In this case, we first report a successful pregnancy with a wild-type CDKN1C gene baby achieved by PGT-M. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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