Journal of Assisted Reproduction and Genetics最新文献

Background: The "Healthy China" initiative, along with advancements in technology for cancer diagnosis and treatment, has significantly enhanced outcomes for patients with gynecologic tumors. The trends of late marriage and delayed childbirth have led to an increasing number of women diagnosed with gynecologic cancers who are seeking fertility preservation in China. This issue is critical yet often overlooked in clinical practice. This review aims to synthesize the existing research on fertility preservation within the field of gynecologic oncology, emphasizing both clinical explorations and expert guidelines.

Methods: We conducted a comprehensive literature review on fertility preservation in the context of gynecologic tumors, examining treatment approaches, commonly employed tumor management technologies, and specific techniques for preserving fertility.

Results: This extensive review highlights the importance of integrating fertility preservation strategies into treatment plans for gynecologic tumors. It explores various methods to safeguard fertility during chemotherapy, radiation therapy, and surgical interventions. For patients with early-stage cervical cancer, surgical options are available; however, these may result in obstetric complications. Neoadjuvant chemotherapy is currently under investigation as an alternative approach. Endometrial cancer can be managed through hysteroscopic resection combined with hormonal therapy. The feasibility of fertility preservation in ovarian cancer varies based on tumor type and patient age. In cases of vulvar and vaginal cancers, partial excision may be considered following a thorough evaluation. Chemotherapy for gestational trophoblastic tumors has proven effective and typically preserves fertility despite potential decreases in AMH levels.

Conclusion: This review provides a comprehensive and current synthesis of the latest evidence and clinical practice guidelines regarding fertility preservation in gynecologic cancers. Its aim is to assist clinicians and researchers in addressing the urgent and increasing demand for effective fertility preservation strategies for their patients.

Background: The aim of this study was to investigate the role of miR-361-5p (a tumor suppressor) in regulating granulosa cell function by targeting SLC25A24, a key mitochondrial protein, to uncover potential therapeutic targets for diminished ovarian reserve (DOR).

Methods: This study included patients undergoing assisted reproductive technology treatment at our hospital. Granulosa cells were isolated from follicular fluid, and KGN cells were used for in vitro experiments. miR-361-5p and SLC25A24 expression levels were manipulated using miRNA mimics and inhibitors, and their effects on cell viability, apoptosis, and mitochondrial function were assessed. Techniques employed included qRT-PCR, Western blot analysis, ELISA, JC-1 staining, and dual-luciferase reporter assays. Key quantitative metrics included changes in mitochondrial DNA (mtDNA), ATP production, and reactive oxygen species (ROS) levels.

Results: miR-361-5p expression was significantly lower in DOR patients' granulosa cells compared to controls (P < 0.01). miR-361-5p inhibition markedly decreased KGN cells viability and increased apoptosis (P < 0.01), while miR-361-5p overexpression had the opposite effects (P < 0.01). SLC25A24 expression was inversely correlated with miR-361-5p levels, and its knockdown reversed the effects of miR-361-5p inhibition. Additionally, miR-361-5p modulation significantly affected mitochondrial function, with its overexpression reducing ROS levels and increasing ATP production (P < 0.01).

Conclusion: miR-361-5p plays a pivotal role in maintaining mitochondrial function and reducing KGN cells dysfunction by targeting SLC25A24. These findings offer new insights into the molecular mechanisms of DOR and highlight miR-361-5p as a potential therapeutic target to enhance ovarian reserve and improve fertility outcomes.

Purpose: Women with polycystic ovary syndrome (PCOS) show greater heterogeneity in ovarian responses during ovarian stimulation. We aimed to investigate the potential predicting factors among individualized basic parameters that affect poor or hyper ovarian responses in PCOS patients.

Methods: We retrospectively screened 2058 women with PCOS who underwent their first cycle of in vitro fertilization/intracytoplasmic sperm injection. Spearman correlation analysis and multivariable linear regression model were applied to screen potential variables impacting the number of oocyte retrieved. Further, women with PCOS were divided into poor, sub-optimal, optimal, and hyper responders based on oocyte-retrieved numbers. Logistic regression model and receiver operating characteristic (ROC) curve were used to testify the predicting effect of screened parameters on ovarian response.

Results: Multivariable linear regression showed that body mass index (BMI) and follicle-stimulating hormone (FSH) were significantly negatively correlated with oocyte numbers, while luteinizing hormone and anti-Müllerian hormone (AMH) showed a positive correlation. Logistic regression model showed that high BMI (RR: 1.141, 95% CI: 1.090, 1.195) and FSH (RR: 1.161, 95% CI: 1.043, 1.293) were risk factors for poor and sub-optimal ovarian response, but not for hyper response. High AMH level was a risk factor (RR: 1.118, 95% CI: 1.075, 1.163) for hyper ovarian response. The optimal cutoff value was BMI = 23.25 kg/cm², FSH = 6.375 IU/L, and AMH = 9.8 ng/mL, respectively.

Conclusions: Individualized basic parameters including BMI, FSH, and AMH are crucial for predicting ovarian response of women with PCOS, providing valuable information for formulating personalized diagnosis and treatment plans.

Purpose: This survey aimed to assess the public's knowledge and opinions on oocyte donation (OD) among a large, unselected cohort of young Belgian women, and to explore aspects that could be enhanced to promote future OD programs.

Methods: We conducted a quantitative, epidemiological, cross-sectional web-based survey from February 2023 to April 2023. A private questionnaire was distributed to young women (21-30 years) living in Belgium via a digital link. The survey covered socio-demographic characteristics, knowledge about the OD procedure, compensation, personal attitudes, motivations and perceptions about anonymity assurance.

Results: A total of 390 women responded to the online questionnaire, with a drop-out rate of 10%. The survey revealed a good level of knowledge about the procedural aspects of OD, which did not influence willingness to donate. Only 19% of respondents were willing to donate, while 39.1% hesitated, particularly regarding private OD. No significant association was found between personal values and willingness to donate. Altruism emerged as the main motivation for gamete donation. Attitudes towards anonymity varied, with childless and older individuals more reluctant to reveal their identity.

Conclusions: Our study confirms that a small portion of the population is willing to donate oocytes, while a considerable proportion (39%) is hesitating. These findings highlight the urgent need for global education programs to raise awareness and address concerns that may prevent women from participating in OD programs.

Pregnancy complications pose challenges for both pregnant women and obstetricians globally, with the pathogenesis of many remaining poorly understood. Recently coined as a mode of cell death, cuproptosis has been proposed but remains largely unexplored. This process involves copper overload, resulting in the accumulation of fatty acylated proteins and subsequent loss of iron-sulfur cluster proteins. This cascade induces proteotoxic stress, leading to cell death. In recent years, studies have indicated a connection between abnormal copper metabolism and several pregnancy-related diseases, including maternal placental dysplasia, gestational diabetes mellitus (GDM), gestational hypertension (PIH), preterm birth or abortion, as well as conditions in offspring such as intrauterine growth restriction (IUGR), allergic disease, Menkes disease, and Wilson's disease. Investigating the mechanism of cuproptosis and abnormal copper metabolism in these pregnancy-related diseases emerges as a critical research area. This article provides a concise review of cuproptosis mechanisms and emphasizes the association between abnormal copper metabolism and pregnancy-related diseases. Nevertheless, the doubtful viewpoints were also discussed.

Purpose: To assess the association of serum vitamin D level and the live birth rate in women undergoing frozen embryo transfer (FET).

Methods: This is a retrospective cohort study involving 1489 infertile women who had frozen embryo transfer at two tertiary reproductive medicine centres from 2019 to 2021. Only the first frozen embryo transfer was included for women who had repeated transfers during the period. Archived serum samples taken at LH surge or before the start of progestogens for FET were analysed for 25(OH)D levels using mass spectrometry. The main outcome measure was the live birth rate. Vitamin D deficiency was defined as serum 25(OH)D < 50 nmol/l (< 20 ng/ml) based on the Endocrine Society Clinical Practice guidelines.

Results: The median age was 36 (25th-75th percentile 34-38) years. 37.7% (561/1489) women had cleavage stage embryo transfer and 62.3% (928/1489) women had blastocyst transfer. When analysing the results based on the threshold in the Endocrine Society guideline of 50 nmol/l (20 ng/ml) for vitamin D deficiency, there were no statistically significant differences in the live birth rate in the vitamin D deficient and non-deficient groups [151/489 (30.9%) vs 341/998 (34.2%), OR 0.861, 95% CI 0.683-1.086 P = 0.205]. There were no statistically significant differences in the pregnancy rates, ongoing pregnancy rates, and miscarriage rates between the two groups.

Conclusion: Serum vitamin D is not associated with birth rate in women undergoing FET.

Purpose: This study aimed to identify demographic and clinical factors associated with low maturation rates and to investigate if the rate of immature oocytes impacts the outcomes of mature sibling oocytes.

Methods: Women undergoing their first IVF-ICSI cycle between 2018 and 2022 at a fertility clinic were included. Cycles were classified into five groups according to the proportion of Metaphase II stage oocytes (MII): Null (0% MII, n = 46), Poor (1-25% MII, n = 44), Low (26-50% MII, n = 453), Acceptable (51-75% MII, n = 1641), and Optimal (76-100% MII, n = 2642). Demographic characteristics and clinical outcomes were compared between the five groups. In patients with a Null/Poor maturation rate, subsequent cycle outcomes were also evaluated.

Results: A total of 4826 cycles were included in the study; 69,909 oocytes were recovered, and 53,065 were MIIs (75.9%). The Null group was older, had lower levels of anti-Müllerian hormone (AMH), needed more gonadotropins and days of stimulation, had higher follicle stimulating hormone (FSH) levels on day 3, and had less follicles > 15 mm on the day of trigger. When the outcomes of mature oocytes were compared, fertilization, usable blastocyst, aneuploidy, and life birth rates were comparable among groups. A binary logistic regression model using number of oocytes, paternal age, and trigger type with live birth rate endpoint found no differences between the categories and the base line Poor category. When patients whose maturation rate was Null/Poor, 42 (47.0%) carried out a second cycle; the maturation rate increased (56.9 ± 31.5 vs. 11.6 ± 11.2%, P < 0.0001).

Conclusion: Our data suggest that poor responders are more likely to have low rates of oocyte maturation. The proportion of immature oocytes does not impact the outcomes of mature sibling oocytes. In patients with Null/Poor maturation in their first cycle, the subsequent cycle is often associated with improved maturation rates.

Purpose: To evaluate the safety, accuracy, and effectiveness of embryoscopy for the management of early abortion and to test the hypothesis that targeted embryo and chorionic villi sampling avoids maternal cell contamination (MCC) for genetic testing of products of conception (POC).

Methods: This ambispective study included 74 consecutive patients presenting with early abortion. Gestations between 5 and 9 weeks, obtained either spontaneously or through assisted reproductive technologies were included. Embryoscopies were performed under transabdominal ultrasound guidance using a 5-mm hysteroscope and forceps and scissors for sampling and resection of the gestational sac. Primary outcomes were the feasibility of the technique, the diagnostic accuracy as measured by absence of maternal cell contamination and the complication rate. The secondary outcome was the comparison between array-comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) in a subgroup of 20 patients.

Results: Seventy-four consecutive procedures were performed, with no cases of maternal contamination and no complications. In 60 patients, a follow-up sonohysterography was performed which showed a normal cavity. The remaining 14 patients had a normal transvaginal ultrasound 1 month after the embryoscopy. In the subgroup of 20 patients analyzed by both aCGH and NGS, we had one case of MCC with aCGH and none with NGS. Differences were found in the detection of mosaicism and triploidy.

Conclusion: Embryoscopy for uterine evacuation minimizes maternal contamination and post-operative complications. Safe and rapid embryoscopy furnishes prompt and reliable genetic analysis of POC that is of great importance in clinical management of early pregnancy failure.