Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, 410008, China.
Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha, 410008, China.
J Assist Reprod Genet. 2021 May;38(5):1247-1253. doi: 10.1007/s10815-021-02127-y. Epub 2021 Mar 6.
The purpose of this study is to explore the reproductive outcomes of women with Turner syndrome (TS) in preimplantation genetic testing (PGT) cycles.
A 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.
Embryo 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.
To avoid high risk of embryo X chromosome abnormalities, prenatal or preimplantation genetic testing should be recommended to mosaic or pure TS patients.
本研究旨在探讨行胚胎植入前遗传学检测（PGT）周期的特纳综合征（TS）女性的生殖结局。
回顾性分析了 2013 年至 2018 年期间 100 个控制性卵巢刺激周期中 68 例 TS（64 例嵌合型特纳综合征（MTS）和 4 例纯特纳综合征（PTS））行 PGT 的患者数据。
TS 女性胚胎 X 染色体异常率显著高于正常核型女性（7.04%比 1.61%，P<0.01）。PGT-NGS 治疗后的累积活产率（CLBR）在 TS 组中低于对照组（31.15%比 45.59%，P<0.05）。TS 组和对照组的临床妊娠率/移植（CPR）、流产率（MR）和活产率/移植（LBR）相当。低（<10%）、中（10-50%）和高（>50%）水平 45,X 嵌合体组的生殖结局（X 染色体异常率、CPR、MR、LBR 和 CLBR）无统计学差异。
为避免胚胎 X 染色体异常的高风险，应建议嵌合型或纯 TS 患者行产前或胚胎植入前遗传学检测。
