20例嵌合型Turner综合征的辅助生殖助孕及相关文献复习

ART outcomes in twenty patients with mosaic Turner syndrome and literature review

目的探讨嵌合型Turner综合征患者的生育功能及辅助生殖助孕的方式。方法选择2011年4月至2017年10月于苏州市立医院生殖中心收治的20例因不孕症要求行辅助生殖助孕的嵌合型Turner综合征患者,回顾性分析临床资料、辅助生殖助孕治疗过程、妊娠结局及其子代核型。结果 20例患者经过辅助生殖助孕,15例分娩正常核型子代(其中14例行IVF/ICSI,1例行PGS),1例孕早期稽留流产(绒毛染色体核型为47,XY,+13),1例生化妊娠,3例未孕(其中包括1例赠卵IVF)。结论对于卵巢功能尚未衰竭的嵌合型Turner综合征患者,结合临床具体情况,可尊重患者意愿尝试自体卵母细胞的辅助生殖助孕,治疗前需知情同意、充分评估。

Objective： To investigate the fertility function and the patterns of ART in patients with mosaic Turner syndrome. Methods： The clinical histories,the process of ART,pregnancy outcomes and offsprings karyotype of 20 patients with mosaic Turner syndrome who treated in the reproductive center of Suzhou Municipal Hospital from Apr. 2011 to Oct. 2017 were retrospectively analyzed. Results： Among 20 patients with mosaic Turner syndrome,15 patients（14 patients by IVF/ICSI and 1 patient by PGS） delivered offsprings with normal karyotype. However, 1 patient miscarried in early pregnancy because of abnormal karyotype（47,XY,＋13）;1 patient was biochemical pregnancy; and the other 3 patients failed to be pregnant（including one oocyte donation cycle）. Conclusions： For patients with mosaic Turner syndrome whose ovarian function has not been exhausted,the assist reproductive technique can be used for them with autologous oocytes in combination with clinical specific conditions. The informed consent and adequate evaluation are necessary before treatment.