Journal of Assisted Reproduction and Genetics最新文献

Purpose: It is widely accepted that pursuing fertility treatment is a costly endeavor, however, there are limited reports on the indirect costs of pursuing treatment-including the impact on professional careers, and costs of time away from work or home required to pursue fertility care.

Methods: A 36-question survey was developed in RedCap and distributed to patients at the Massachusetts General Hospital (MGH) Fertility Center, following exemption from the IRB. This study included English speaking patients, aged > 18 and < 50 years old, undergoing IVF cycles between August 1 and December 31, 2024. Two hundred fifty-one survey invitations were sent through Epic Gateway patient messages with 54 unique responses (22% response rate) after trigger before oocyte retrieval. Self-reported impact of fertility care on professional lives including time away from work, additional financial burden, and workplace privacy. Distance and time spent travelled were calculated through GoogleMaps with cost estimates generated using IRS cost/mile and lost work hours.

Results: Forty-seven respondents (90%) reported missing work to attend appointments. Additionally, 31 (60%) patients reported attending appointments affected their privacy at work and 26 (50%) had to disclose the reason for missing work to their employer, of which 14 (54%) would have preferred not to disclose this information. Thirty-four (65%) participants reported missing professional obligations and 27 (52%) reported missing personal obligations to attend appointments. A total of 8 (15%) reported changing work responsibilities to accommodate fertility treatment. When accounting for travel time and potential work hours missed, an average of 260.15 min/cycle and an average of $53.63/hour wage this amounts to $232.53 lost work hours/productivity. Total time accounted for an additional "cost" of $544.53 per IVF cycle.

Conclusion: This pilot survey highlights the significant indirect costs of pursuing fertility care and identifies time away from work and workplace privacy as two of the two primary drivers. There is a clear need for additional research in the area of the indirect cost of fertility care.

Objective: This study aimed to explore the fertility potential in Turner syndrome through a detailed multidisciplinary analysis of a 45,X patient who achieved a successful live birth via IVF, integrating clinical, genetic, and molecular perspectives to inform future fertility management strategies.

Methods: A retrospective analysis was performed on a 30-year-old 45,X Turner syndrome patient diagnosed with primary infertility and bilateral fallopian tube obstruction. Genetic analyses, including karyotyping and CNV-seq, were conducted. The assessment covered medical history, auxiliary examinations, IVF treatment, prenatal diagnosis, and pregnancy outcomes.

Results: The patient's peripheral blood karyotype was pure 45,X, but she successfully achieved pregnancy and delivered a healthy female infant via IVF-ET. Prenatal diagnosis revealed the fetal karyotype to be 46,XX, with no pathogenic CNVs detected.

Conclusion: These findings indicate that a subset of Turner syndrome patients with a pure 45,X peripheral blood karyotype may retain reproductive potential, likely attributable to an underlying germline mosaicism. Healthy live births are achievable with assisted reproductive technology and prenatal diagnosis. Therefore, comprehensive fertility assessment, genetic counseling, and personalized management strategies should be offered to these individuals.

Purpose: The purpose of this study is to assess the impact of acute anomalous high-temperature exposure on mouse ovaries, hormone profiles, estrous cyclicity, and folliculogenesis.

Methods: Reproductively young CD-1 mice (6-12 weeks old) were housed in temperature-adjustable chambers under control (28 °C) or heat stress conditions (35 °C) for 1 or 4 consecutive days. Ovaries were collected either immediately after exposure or after a 3-week delay period.

Results: Body weights remained unchanged across groups. Ovary weight was significantly reduced immediately following 4 days of heat exposure, while ovary length trended toward a decrease. Serum hormones-AMH, FSH, and progesterone-were not significantly different between groups. All animals cycled at least twice during a 2-week monitoring period. Follicle counts across all follicle stages were also not significantly different between groups.

Conclusion: Short-term exposure to elevated temperature (35 °C) leads to a transient reduction in ovary weight without altering hormone levels, cyclicity, or folliculogenesis. These findings suggest that acute heat stress may primarily affect the ovarian stroma, warranting further investigation into its structural and functional consequences.

Purpose: Endometriosis (EM) is a chronic inflammatory gynecological disorder characterized by ectopic endometrial-like lesions, where aberrant angiogenesis is a hallmark driving lesion establishment and progression. However, the transcriptional mechanisms underlying pathological vascular remodeling in EM remain unclear.

Methods: In this study, we identified E26 transformation-specific 1 (ETS1) as a key transcriptional regulator in EM pathogenesis through integrative analysis of bulk and single-cell transcriptomic datasets.

Results: Across three independent transcriptome datasets and two validation cohorts, ETS1 expression was consistently elevated in endometriosis lesions, particularly in ovarian endometrioma. Single-cell RNA sequencing further revealed that ETS1 was predominantly expressed in endothelial cells and dynamically upregulated along the endothelial differentiation trajectory. Functional enrichment and pseudotime analyses indicated that ETS1 + endothelial cells exhibited enhanced angiogenic activity and vascular remodeling potential. Mechanistically, ETS1 amplified VEGF signaling by upregulating VEGFR1 and VEGFR2, while macrophage-derived VEGFA acted as the principal upstream activator within the lesion microenvironment.

Conclusions: Collectively, our findings delineate the VEGF-ETS1 axis as a central driver of pathological angiogenesis in endometriosis, positioning ETS1 as both a mechanistic hallmark and a promising therapeutic target for endometriosis.

Purpose: Poor ovarian response and primary ovarian insufficiency remain major challenges in assisted reproductive technologies. Recent advances propose mechanical approaches-such as in vitro activation, drug-free IVA, and whole ovarian laparoscopic incision (WOLI)-as well as biological strategies like platelet-rich plasma (PRP) injections to improve ovarian function. This study aims to evaluate the impact of WOLI and PRP on ovarian follicular activation, with a particular focus on the associated biomechanical alterations in the ovarian cortex.

Methods: Experimental pilot study includes six aged female Merino sheep. Group A underwent WOLI on one ovary, and group B received PRP injections. Contralateral ovaries served as controls. Laparoscopic bilateral oophorectomies were performed at 2, 4, and 6 months. Atomic force microscopy (AFM) measured ovarian cortical stiffness, and histological analysis assessed follicular activation. Analyses were performed by comparing the operated ovary to the contralateral, non-operated ovary.

Results: AFM measurements showed that in group A, ovarian stiffness significantly increased at 6 months (8.683 kPa vs. 5.551 kPa; p < 0.001), with no significant differences at 2 or 4 months. In group B, stiffness increased significantly at 2 months (11.177 kPa vs. 6.590 kPa; p < 0.001), but not at 4 or 6 months post-intervention. Growing follicle proportions differed between treated and control ovaries respectively, with activation at 2 months (58.95% vs. 29.73%) in group A and 6 months in group B (53.01% vs. 20.33%).

Conclusion: The study suggests that the activating effect on ovarian folliculogenesis of both the surgical procedure and PRP administration shows a different time course and that could be related to its effect on ovarian cortex mechanobiology.

Purpose: To assess the impact of transvaginal ovarian drilling (TVOD) on euploidy rates following repeat in vitro fertilization (IVF) in subjects with polycystic ovarian syndrome (PCOS).

Materials and methods: A single institution retrospective cohort study between January 2017 and December 2024, all patients with PCOS, as confirmed by Rotterdam criteria, who had TVOD performed prior to a repeat IVF cycle and underwent PGT-A in both the prior and repeat cycles were included and compared to a well-matched control. The primary outcome was the number of transferable embryos per cycle. Secondary outcomes included: blastocyst yield, euploid yield, and rates of aneuploidy.

Results: Eighteen subjects met criteria in our study time frame and were compared to 57 control subjects. The mean age for the TVOD and control groups was 35.3 ± 4.6 and 36.5 ± 4.4 respectively (p = 0.34). TVOD was associated with a doubling of blastocyst yield, a sixfold increase in the yield of euploid blasts, and a nearly fourfold decrease in the percentage of aneuploid blasts. When compared to controls, TVOD resulted in a significant improvement in the yield of euploid embryos, from + 1.3 to + 2.4 (p = 0.01), and transferable embryos from + 1.5 to + 3.9 (p = 0.001). TVOD also resulted in a decrease in the percentage of aneuploid embryos from - 8.5 to - 49% (p < 0.001).

Conclusion: TVOD appears to have positively impacted the yield of transferable embryos and euploid embryos in patients with PCOS when compared to a well-matched control.

Background and objective: Artificial intelligence (AI) has emerged as a promising tool for clinical decision support in reproductive medicine, yet the performance of general-purpose large language models (LLMs) in predicting in vitro fertilization (IVF) outcomes remains insufficiently characterized. This exploratory proof-of-concept study aimed to evaluate and compare the out-of-the-box performance of three widely accessible LLM-based systems (ChatGPT, DeepSeek, and Gemini) in forecasting key clinical and laboratory outcomes of IVF treatments.

Methods: This retrospective single-center study used data from 1473 autologous IVF/ICSI cycles, each representing a unique patient. For each cycle, relevant clinical and laboratory variables were incorporated into a standardized anonymized patient-level vignette and submitted via the publicly available web interfaces of three LLMs (ChatGPT, DeepSeek, Gemini) without any fine-tuning or internal customization. The models were asked to predict stimulation protocol, ovulation trigger type, total and mature oocyte counts, usable embryo counts, and clinical pregnancy. Predictive performance was evaluated using accuracy and tolerance-based accuracy for categorical and count-based outcomes, mean absolute error for numerical predictions, and the area under the receiver operating characteristic (ROC) curve for clinical pregnancy.

Results: Gemini achieved the highest accuracy in predicting stimulation protocols (51.26%) and embryo counts (68.22%), while DeepSeek demonstrated the lowest numerical error for oocyte count predictions. Clinical pregnancy prediction was the most challenging task; all models showed only moderate discrimination, with Gemini achieving the highest AUC (0.711), followed by ChatGPT (0.690) and DeepSeek (0.676). Overall, model performance varied considerably across tasks and remained below thresholds that would be considered sufficient for reliable stand-alone clinical use.

Conclusions: In this exploratory proof-of-concept setting, general-purpose AI systems showed variable and overall suboptimal performance in predicting IVF outcomes from standardized clinical vignettes. Although certain models demonstrated relative strengths in specific tasks, none reached the reliability, consistency, or interpretability required for safe clinical implementation. These findings indicate that, in their current form, such models should not be used as clinical decision-support tools for IVF decision-making and that their use should remain restricted to carefully controlled research settings until they have been prospectively validated in multicenter cohorts and systematically compared with rigorously developed, task-specific prediction models. This study provides comparative insight into how these AI systems behave in IVF-related prediction tasks and underscores the need for cautious interpretation of AI-generated outputs.

We report a case of fertility preservation using random-start controlled ovarian stimulation and embryo cryopreservation in a patient with a recent second trimester termination. A 32-year-old patient at 17 weeks of gestation was diagnosed with advanced colorectal cancer after presenting with hematochezia and acute blood loss anemia. To initiate urgent chemotherapy, the patient underwent an elective termination at 18-week gestation. Random-start controlled ovarian stimulation (COS) was initiated seven days later using a gonadotropin-releasing hormone antagonist protocol. Despite a β-human chorionic gonadotropin level of 52.4 mIU/mL, ovarian stimulation was started. Nineteen oocytes were retrieved after 10 days of ovarian stimulation, of which 15 were mature. Eleven mature oocytes fertilized successfully using intracytoplasmic sperm injection. All 11 embryos developed into the blastocyst stage and underwent biopsy for preimplantation genetic testing for aneuploidy screening. Five blastocysts were found to be euploid. The patient subsequently initiated chemotherapy seven days after her oocyte retrieval. This case highlights the feasibility of random-start COS and embryo cryopreservation for fertility preservation immediately after a second trimester termination in a patient with newly diagnosed colorectal cancer.

Purpose: Since 2021, elective egg freezing (EEF) without medical indication has been authorized and fully reimbursed in France for women aged 29 to 37. While this regulatory change represents a significant advancement in reproductive rights, it also raises new ethical and organizational challenges. This study aimed to explore the ethical issues experienced by infertility specialists involved in the clinical implementation of EEF in France.

Methods: This prospective, qualitative, monocentric study was conducted in a university-based ART center. All physicians involved in EEF at the center were invited to participate in semi-structured interviews. Data were analyzed inductively using Grounded Theory methodology.

Results: Eight practitioners participated. Four main themes emerged: (1) challenges in accessing EEF due to resource constraints and growing demand; (2) a new relationship between caregiver and patient in a context where care is no longer strictly medical; (3) a need to redefine the role of EEF in society, including the terminology used and funding mechanisms; and (4) questions about the future of EEF, including prioritization criteria, equitable access, and sustainability of the current model.

Conclusions: While EEF is widely supported by healthcare professionals, its integration into routine practice reveals tensions between autonomy, justice, beneficence, and public resource management. National guidelines, improved access to information, and further research-particularly incorporating women's perspectives-are essential to ensure ethically sound implementation.