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Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles
Authors:Jingnan Liao  Keli Luo  Dehua Cheng  Pingyuan Xie  Yueqiu Tan  Liang Hu  Guangxiu Lu  Fei Gong  Ge Lin
Affiliation:1.Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, 410008 China ;2.Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, 410008 China ;3.Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410008 China
Abstract:PurposeThe purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles.MethodsA retrospective study of 100 controlled ovarian stimulating cycles, 68 TS (sixty-four mosaic Turner syndrome (MTS) and four pure Turner syndrome (PTS)) women underwent PGT was conducted from 2013 to 2018.ResultsEmbryo X chromosome abnormal rates of TS women were significantly higher than women with normal karyotype (7.04 vs 1.61%, P<0.01). Cumulative live birth rates (CLBR) after PGT-NGS treatment were lower in TS than control (31.15 vs 45.59%, P<0.05). Clinical pregnancy rates per transfer (CPR), miscarriage rates (MR) and live birth rates per transfer (LBR) remained comparable between TS and control group. Reproductive outcomes (X chromosome abnormal rates, CPR, MR, LBR and CLBR) among low (<10%), medium (10–50%) and high (>50%) level 45,X mosaicism groups were not statistically different.ConclusionsTo avoid high risk of embryo X chromosome abnormalities, prenatal or preimplantation genetic testing should be recommended to mosaic or pure TS patients.
Keywords:Aneuploidy,   Live birth rate,   Mosaicism,   Preimplantation genetic screening,   Turner syndrome (TS)
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