JBRA Assisted Reproduction 2025;29(Suppl.2 SBRA 2025):42
Poster Presentation
29^th Annual Congress of the SBRA. São Paulo/SP - Brazil, 2025
doi: 10.5935/1518-0557.20263580

P-30. Autologous IVF with PGT-A in Turner Syndrome: Embryo Aneuploidy Rates and Reproductive Outcomes

Giuliano Bedoschi¹, Caroline Ingold¹, Matheus Roque², Paula Andrea Navarro³

¹Fertivitro - São Paulo - SP - Brasil
²Huntington Medicina Reprodutiva - São Paulo - SP - Brasil
³Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo - Ribeirão Preto - SP - Brasi

Objective: Turner syndrome (TS), the most common sex chromosome disorder in women, often leads to primary ovarian insufficiency. Conception with autologous oocytes carries an increased risk of miscarriage, chromosomal abnormalities, and adverse obstetric outcomes. Preimplantation genetic testing for aneuploidy (PGT-A) in autologous in vitro fertilization (IVF) cycles has been proposed to mitigate these risks; however, embryo aneuploidy rates and clinical outcomes in TS remain uncertain. This study aimed to evaluate these outcomes through a systematic literature review.
Methods: A comprehensive search was conducted in MEDLINE, Embase, Cochrane CENTRAL and LILACS according to the Cochrane Handbook and PRISMA guidelines. The search identified studies reporting embryonic aneuploidy rates and clinical outcomes in autologous IVF cycles with PGT A in women with TS. The review followed the PICO framework: Population: reproductive age women with TS; Intervention: autologous IVF with PGT A; Comparison: women without chromosomal abnormalities; Outcomes: embryo aneuploidy, clinical pregnancy per transfer (CPR), live birth per transfer (LBR) and miscarriage rate (MR).
Results: Of 1,717 references, 1,338 remained after the removal of duplicates. After screening, 23 texts were evaluated and 17 were excluded. Six studies met the criteria, but three were case reports, resulting in three retrospective studies published in 2020-2021. They included women with mosaic or pure TS who underwent autologous IVF; two compared PGT-A cycles with healthy control groups and one compared PGT-A with conventional IVF in patients with Turner syndrome, totaling 240 autologous PGT-A cycles (maternal age 33.8–38.4 years). In the first study, 65 PGT-A cycles were compared with 140 oocyte-donation cycles in TS patients. In the PGT-A cycles, the embryo aneuploidy and mosaicism rates were 61.3% and 9.4%, with a maternal age of 38.1 years. CPR (41.9% vs. 56.6%, p<0.05) and LBR (22.5% vs. 37.7%, p<0.05) were lower, while cycle cancellation rates were higher (52.3% vs. 7.8%, p<0.05) in PGT-A compared with oocyte-donation cycles. MR did not differ between groups. In the second study, 75 PGT-A cycles were compared with 284 conventional IVF cycles in women with TS. In the patients who underwent PGT-A, embryo aneuploidy and mosaicism rates were 46.8% and 9.1%, with a mean maternal age of 33.8 years. No significant differences were found in CPR per transfer (58.3% vs. 69.6%, p=0.48), LBR per transfer (52.1% vs. 53.1%, p=0.76), or MR (10.7% vs. 23.5%, p=0.35) or cycle cancellation rate (27.27% vs. 28.17%, p=0.86) between the PGT-A and conventional IVF groups. In the third study, 68 TS patients were age-matched 1:2 with 136 women with a normal karyotype, and all underwent PGT-A. Embryonic X chromosome aneuploidy was significantly higher in TS embryos (7.04% vs. 1.61%, p<0.01). However, there were no significant differences in mean maternal age (35.4 vs. 35.8 years, p>0.05), CPR (73.3% vs. 81.5%, p>0.05), LBR (63.3% vs. 72.1%, p>0.05), MR (13.6% vs. 8.6%, p>0.05) or cycle cancellation rate (43.0% vs. 42.6%, p>0.05) between TS patients and controls. However, cumulative LBR was significantly lower in TS patients (31.2% vs. 45.6%, p<0.05).
Conclusion: Evidence derived from only three retrospective studies indicates that in women with Turner syndrome undergoing autologous IVF with PGT-A, clinical pregnancy and live birth rates per embryo transfer may be comparable to those in women with a normal karyotype. However, higher cycle cancellation rates, often due to the absence of transferable embryos, may lower cumulative live birth rates in this population. Overall embryo aneuploidy rates do not appear consistently elevated, although one study found an increased incidence of sex chromosome aneuploidy. Given methodological heterogeneity and the small number of studies, well-designed research is needed to clarify the Turner karyotype’s impact on embryo aneuploidy risk.