Article
First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.
Taiwanese journal of obstetrics & gynecology - 1 Jan 2022
Yang Ih-Jane, Tu Yi-An, Pan Song-Po, Huang Ting-Chi, Chen Chih-Ling, Lin Ming-Wei, Tsai Yi-Yi, Yao Yi-Lin, Su Yi-Ning, Chen Shee-Uan
Abstract excerpt
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....
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