Outcomes of IVF-ET in patients with mosaic Turner syndrome: a retrospective study.

Abstract

Purpose: To compare the outcomes of in vitro fertilization and embryo transfer (IVF-ET) between patients with mosaic Turner syndrome (TS) and those with a normal karyotype, and assess the impact of the degree of mosaicism on the outcome of IVF-ET treatment.

Methods: Patients undergoing IVF-ET between January 2022 and October 2024 were retrospectively included. After 1:2 propensity score matching (PSM), 99 patients with mosaic TS and 198 patients with a normal karyotype were assigned into the TS group and control group, respectively. The TS group was further stratified into low mosaicism (< 10% abnormal cells) and high mosaicism (≥ 10% abnormal cells) subgroups. The ovarian response, quality of oocytes and embryos, and outcomes of first embryo transfer cycle were compared.

Results: The blastocyst rate was significantly lower in the TS group compared to the control group (43.45% vs. 51.40%, p = 0.011). Subgroup analysis revealed that the high mosaicism group had a significantly lower blastocyst rate compared to the low mosaicism group (38.39% vs. 48.76%, p = 0.034). No significant difference was detected in the rates of metaphase Ⅱ oocyte, normal fertilized oocyte, cleavage embryo, high-quality cleavage embryo, high-quality blastocyst, clinical pregnancy, live birth, miscarriage, complications during pregnancy, and birth weight and height of infants between the TS and control groups (p > 0.05) or between the TS subgroups.

Conclusion: The blastocyst formation rate was lower in patients with mosaic TS compared to those with a normal karyotype, showing a trend of decline along with the extent of mosaicism, while the outcomes of pregnancy are comparable.