Laura Krygere, Ruta Bartasiene, Agne Kozlovskaja-Gumbriene, Egle Drejeriene
{"title":"Infertility management in a patient with Swyer syndrome: a case report.","authors":"Laura Krygere, Ruta Bartasiene, Agne Kozlovskaja-Gumbriene, Egle Drejeriene","doi":"10.1007/s10815-025-03442-4","DOIUrl":"https://doi.org/10.1007/s10815-025-03442-4","url":null,"abstract":"<p><strong>Purpose: </strong>To highlight the successful use of assisted reproductive technologies in achieving pregnancy and healthy childbirth in a woman with Swyer syndrome, a rare disorder of sex development characterized by gonadal dysgenesis, elevated gonadotropin levels, oestrogen insufficiency, tall stature, delayed puberty, and primary amenorrhoea. This case highlights the efficacy of reproductive treatments for individuals with nonfunctional gonads resulting from complete gonadal dysgenesis.</p><p><strong>Methods: </strong>This report describes a woman diagnosed with Swyer syndrome at 18 years, presenting with primary amenorrhoea and delayed puberty. Following diagnosis, the patient underwent bilateral gonadectomy due to the increased risk of germ cell neoplasia and began hormone replacement therapy to address oestrogen insufficiency. At 31, the patient pursued fertility treatment, undergoing in vitro fertilisation (IVF) with donated oocytes.</p><p><strong>Results: </strong>The IVF treatment using donor oocytes led to a successful pregnancy without complications. The pregnancy culminated in the delivery of a healthy baby via caesarean section, marking a successful outcome for a patient with Swyer syndrome.</p><p><strong>Conclusion: </strong>Assisted reproductive technologies, particularly in vitro fertilisation (IVF) using oocyte donation, provide a feasible option for individuals diagnosed with Swyer syndrome to achieve parenthood. This case adds to the growing research on reproductive success in women with complete gonadal dysgenesis, emphasizing the potential for positive outcomes through specific reproductive approaches.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mitochondrial FIS1 level in cumulus cells correlates with morphological grades of human cleavage-stage embryos.","authors":"Yizhen Sima, Sanbao Shi, Zhunyuan Min, Yuning Chen, Yongning Lu, Hongying Sha, Suying Liu","doi":"10.1007/s10815-025-03431-7","DOIUrl":"https://doi.org/10.1007/s10815-025-03431-7","url":null,"abstract":"<p><strong>Purpose: </strong>Advanced-age women have a lower good-quality embryo rate (GQER) compared to young women. However, GQER varies widely within the same age group, suggesting that factors beyond age influence embryo quality. Mitochondria regulate cellular metabolism through dynamic fission and fusion alterations. Specifically, cumulus cell (CC) mitochondria regulate not only the metabolism of CCs but also of adjacent oocytes. This study aims to investigate the relationship between CC mitochondrial dynamics and oocyte developmental potential post-fertilization.</p><p><strong>Methods: </strong>CCs were collected from 183 women aged 25-45 undergoing single sperm intracytoplasmic injection-embryo transfer treatments. Samples were stratified by age into young (< 35) and advanced age (≥ 35) groups. Each group was further subdivided into high and low subgroups based on day 3 GQER. Mitochondrial morphology, dynamics, fission-fusion gene expression, and mitochondrial functions were compared among groups and subgroups.</p><p><strong>Results: </strong>Consistent with the literature, data analysis from our laboratory revealed significant variances in GQER among individuals of the same age group. Morphological analysis suggested a negative correlation between GQER and mitochondrial length in CCs (P < 0.0001, r = - 0.38). Live-cell imaging showed that both fission and fusion frequencies of CC mitochondria in the advanced-age group were lower than those in the young group (P = 0.009, P = 0.01). Additionally, within the advanced-age group, CC mitochondria from the low GQER subgroup exhibited lower fission frequency and fission-fusion ratios compared to the high GQER subgroup (P = 0.04, P = 0.01). Consequently, GQER positively correlated with mitochondrial fission-fusion ratio in CCs (P = 0.01, r = 0.44). Notably, there were no significant differences in the expression of mitochondrial fusion-related proteins (OPA1, MFN1, and MFN2) between the advanced-age and young groups or among the subgroups. However, levels of fission proteins, including FIS1 and MFF, were significantly lower in the advanced-age group compared to the young group and in the low GQER subgroup compared to their high GQER counterparts. qPCR results further indicated that fis1 and mff mRNA levels in CCs were positively correlated with GQER (P < 0.0001, r = 0.55; P = 0.0025, r = 0.41). The CCs from the low GQER subgroup exhibit a higher level of mitochondrial dysfunction.</p><p><strong>Conclusions: </strong>Mitochondrial morphology, fission-fusion balance, and fission-fusion gene expression in CCs influence early embryonic development, independent of age. Of these factors, the FIS1 level shows the most robust correlation with GQER.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Isaac J Chamani, Lauren L Taylor, Hailie Ciomperlik, Timothy Dunn, Anna C Reynolds, Beatriz Varman, Karin A Fox, Laura Detti
{"title":"Preimplantation genetic testing and disorders of placental implantation: a systematic review and meta-analysis.","authors":"Isaac J Chamani, Lauren L Taylor, Hailie Ciomperlik, Timothy Dunn, Anna C Reynolds, Beatriz Varman, Karin A Fox, Laura Detti","doi":"10.1007/s10815-025-03441-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03441-5","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate whether embryo biopsy for preimplantation genetic testing (PGT) during in vitro fertilization (IVF) increases the risk of disorders related to abnormal placental implantation.</p><p><strong>Methods: </strong>A systematic search of Medline, Embase, and Web of Science was performed on February 17, 2023, and identified studies on placental implantation anomalies following PGT in IVF patients. The primary outcome was placenta accreta spectrum (PAS), while secondary outcomes included placental abruption, placenta previa, preterm premature rupture of membranes (PPROM), and hypertensive pregnancy disorders. Only peer-reviewed randomized controlled trials, cohort, case-control, and cross-sectional studies in English were considered. Two reviewers independently screened citations, extracted data, and assessed study quality. Data analysis was performed using RevMan 5.4.</p><p><strong>Results: </strong>Of 282 citations retrieved by our search, 8 studies met inclusion criteria. There was no statistically significant difference in PAS risk between groups (aggregated OR 0.78, 95% CI 0.22-2.76, P = 0.70). Amongst secondary outcomes, mean BMI was lower in PGT patients (mean difference - 0.57, 95% CI - 0.98 to - 0.17, P = 0.005), and PPROM rates were higher (OR 1.29, 95% CI 1.04-1.60, P = 0.02). Other secondary outcomes showed no significant differences.</p><p><strong>Conclusion: </strong>Embryo biopsy for PGT in IVF was not associated with an increased risk of PAS. However, PGT was more commonly performed in patients with lower BMI, and an elevated risk of PPROM was observed, primarily driven by a single study. Further investigation is needed to clarify this finding and its implications.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alice Poulton, Melody Menezes, Tristan Hardy, Sharon Lewis, Lisa Hui
{"title":"IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles.","authors":"Alice Poulton, Melody Menezes, Tristan Hardy, Sharon Lewis, Lisa Hui","doi":"10.1007/s10815-025-03416-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03416-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate live birth rates per embryo transfer where the primary indication for assisted reproduction was preimplantation genetic testing for monogenic conditions.</p><p><strong>Methods: </strong>All oocytes were fertilized using intracytoplasmic sperm injection. On days 5-7, ~ 5 trophectoderm cells were biopsied. Whole genome amplification was performed on biopsy samples, followed by a karyomapping protocol. Embryos underwent concurrent 24-chromosome screening. Outcomes included the number of stimulated cycles resulting in embryo biopsy, monogenic and aneuploidy screening results, embryo transfers, and clinical pregnancies and live births. Generalized Estimating Equations were used to analyze the relationship between binary clinical outcomes and fertility covariates.</p><p><strong>Results: </strong>Between 2015 and 2022, the laboratory biopsied and tested 2344 embryos for monogenic indications, from 527 stimulated cycles. Eight hundred forty-nine biopsied embryos were euploid and low probability of the condition of interest. Five hundred and thirteen embryos were transferred, resulting in 263 clinical pregnancies, and 230 live births. This translated to clinical pregnancy and live birth rates per embryo transfer of 51.3% (95% CI, 47.0-55.6%) and 44.8% (95% CI, 40.6-49.2%). Compared with patients undergoing preimplantation genetic testing without a subfertility factor, patients with a subfertility factor were 48% less likely to achieve a clinical pregnancy per embryo transfer (β = - 0.4797474, p = 0.026) and 42% less likely to achieve a live birth (β = - 0.4172361, p = 0.052).</p><p><strong>Conclusions: </strong>Individuals accessing preimplantation genetic testing for monogenic conditions have higher clinical pregnancy and live birth rates than couples accessing in vitro fertilization for other indications such as subfertility. These findings confirm that preimplantation genetic testing is an effective reproductive option for Australian carrier individuals.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jie Dong, Zhichuan Zou, Wenhua Wang, Li Chen, Rujun Ma, Xie Ge, Jun Jing, Jinzhao Ma, Bing Yao
{"title":"A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.","authors":"Jie Dong, Zhichuan Zou, Wenhua Wang, Li Chen, Rujun Ma, Xie Ge, Jun Jing, Jinzhao Ma, Bing Yao","doi":"10.1007/s10815-025-03443-3","DOIUrl":"https://doi.org/10.1007/s10815-025-03443-3","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to demonstrate the genetic factors of primary gonadal dysgenesis in a consanguineous family characterized by underdeveloped testes and non-obstructive azoospermia (NOA) in a male and primary amenorrhoea and primary ovarian insufficiency (POI) in a female.</p><p><strong>Methods: </strong>DNA was extracted from the male proband with infertility from the consanguineous family for whole-exome sequencing and bioinformatics analysis to screen for potential pathogenic genes and mutations. Sanger sequencing was used for further validation of his family pedigree. The effects of the identified novel mutation were evaluated in the male testes tissue by immunohistochemistry and in HEK293T cells by Western blot.</p><p><strong>Results: </strong>A homozygous frameshift mutation c.998delG (p. Gly333Glufs*50) in MCM8 was identified in the two siblings. The testes tissue sections in the male showed a Sertoli cell-only syndrome (SCOS). Functional analysis in vitro suggested that the mutation results in a truncated protein of MCM8 in HEK293T cells, and immunohistochemistry in vivo showed decreased expression of MCM8 protein.</p><p><strong>Conclusion: </strong>We identified a novel homozygous frameshift mutation of MCM8 in two siblings diagnosed with primary gonadal dysgenesis from a consanguineous family. Functional analysis confirmed the pathogenicity of this mutation. Our study not only further reveals the essential role of MCM8 in human gonadal development, but also expands the mutational spectrum of MCM8 involved in male NOA and female POI and provides a new molecular marker for genetic counseling of infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ninghua Xu, Yulin Du, Zhuolun Su, Shuang Yu, Wenjing Li, Yichun Guan, Hua Lou
{"title":"Analysis of pregnancy outcomes in patients with unexplained recurrent miscarriage assisted by IVF/ICSI with or without PGT-A.","authors":"Ninghua Xu, Yulin Du, Zhuolun Su, Shuang Yu, Wenjing Li, Yichun Guan, Hua Lou","doi":"10.1007/s10815-025-03438-0","DOIUrl":"https://doi.org/10.1007/s10815-025-03438-0","url":null,"abstract":"<p><strong>Purpose: </strong>The objective of this study was to evaluate the efficacy of preimplantation genetic testing for aneuploidy (PGT-A) in reducing the incidence of early miscarriage among patients diagnosed with unexplained recurrent spontaneous abortion (URSA).</p><p><strong>Methods: </strong>This investigation was designed as a retrospective cohort study, examining patients who underwent freeze-thaw embryo transfer (FET) of single blastocysts from January 2018 to August 2023. A total of 675 FET cycles involving patients with URSA were included in the study. The primary outcome measure was the early miscarriage rate, while secondary outcome measures included the clinical pregnancy rate, ongoing pregnancy rate, and live birth rate.</p><p><strong>Results: </strong>A total of 316 patients with URSA who underwent PGT-A utilizing next-generation sequencing (NGS) technology were designated as the PGT-A group. Additionally, 359 URSA patients who underwent in vitro fertilization (IVF)/intra-cytoplasmic sperm injection (ICSI) during the same time frame were selected as the control group. Following comprehensive embryo cryopreservation, the blastocyst exhibiting the highest morphological score was chosen for the initial FET cycle in both groups. The pregnancy outcomes between the two groups were subsequently compared. In patients with URSA, the application of PGT-A was associated with improved clinical pregnancy rates (64.2% vs. 45.7%; aOR, 2.012; 95% CI, 1.303 to 3.108; P = 0.002), ongoing pregnancy rates (53.2% vs. 34.0%; aOR, 2.121; 95% CI, 1.379 to 3.260; P = 0.001), and live birth rates (51.3% vs. 32.9%; aOR, 2.019; 95% CI, 1.316 to 3.097; P = 0.001). In patients aged 38 years and older with unexplained recurrent miscarriages, PGT-A not only increased the rate of ongoing pregnancies (50.0% vs. 17.5%; aOR, 4.325; 95% CI, 1.31 to 14.281; P = 0.016) and live birth rates (46.7% vs. 17.5%; aOR, 3.684; 95% CI, 1.141 to 11.893; P = 0.029), but also significantly reduced the rate of early miscarriage (16.7% vs. 40.0%; aOR, 0.098; 95% CI, 0.01 to 0.956; P = 0.046).</p><p><strong>Conclusions: </strong>PGT-A has been demonstrated to enhance clinical pregnancy rates, ongoing pregnancy rates, and live birth rates in patients experiencing unexplained recurrent miscarriages. Furthermore, the implementation of PGT-A significantly reduced the rate of early miscarriage among older patients aged 38 years and above.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Li Wang, Jianfang Li, Tiexia Lu, Chuyue Shan, Lixiu Wang, Chang Liu, Dan Luo, Bing Xiang Yang, Huijing Zou, Fuling Zhou, Qian Liu
{"title":"Perspectives and clinical practices on fertility preservation for young hematologic patients: a qualitative study of healthcare providers across multiple hospitals in China.","authors":"Li Wang, Jianfang Li, Tiexia Lu, Chuyue Shan, Lixiu Wang, Chang Liu, Dan Luo, Bing Xiang Yang, Huijing Zou, Fuling Zhou, Qian Liu","doi":"10.1007/s10815-024-03380-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03380-7","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to understand healthcare providers' (HCPs) perspective and clinical practices regarding fertility preservation in young hematologic patients, particularly from hematology, reproductive medicine, and ethics committee professionals.</p><p><strong>Methods: </strong>An empirical phenomenological approach was employed. HCPs were recruited from the hematology, reproductive medicine, and ethics committee professionals of eight tertiary hospitals in China using purposive sampling. They participated in semi-structured, in-depth face-to-face individual interviews. Interviews were transcribed verbatim and analyzed using Colaizzi's phenomenological method.</p><p><strong>Results: </strong>A total of 33 HCPs were recruited, including 12 hematology physicians, two pediatric hematology physicians, six hematology nurses, nine reproductive medicine physicians, two reproductive medicine nurses, and two ethics committee members. The analysis revealed three major themes and associated subthemes: (1) HCPs' overall perspectives of fertility preservation: all recognized its importance and feasibility in young patients with hematologic diseases, though interdepartmental differences; (2) Fertility preservation practice status: still in its early stages, communication strategies are crucial, and balancing the urgency of disease treatment with fertility preservation remains a challenge; and (3) Multi-level challenges and recommendations: challenges exist across the medical system, patient-related factors, and sociocultural levels, with recommendations proposed to address some barriers.</p><p><strong>Conclusions: </strong>HCPs recognized the importance and feasibility of fertility preservation for hematologic patients. However, its implementation faces challenges at multiple levels, including the medical system, patient-related factors, and sociocultural influences. To facilitate early discussions and informed decision-making about fertility preservation, it is crucial to enhance multidisciplinary collaboration, provide better support for patients and their families, and strengthen legal and policy frameworks.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emanuele Licata, Matthew VerMilyea, Brooke Ducote, Tonya Ferguson, Claudia Bianco, Mariagrazia Gallo, Gemma Paciotti, Renata Passerini, Caterina Meneghini, Cristina Fabiani, Francesco Galanti, Alessandro Dal Lago, Rocco Rago
{"title":"A diluted one-step warming protocol: survival of vitrified blastocyst.","authors":"Emanuele Licata, Matthew VerMilyea, Brooke Ducote, Tonya Ferguson, Claudia Bianco, Mariagrazia Gallo, Gemma Paciotti, Renata Passerini, Caterina Meneghini, Cristina Fabiani, Francesco Galanti, Alessandro Dal Lago, Rocco Rago","doi":"10.1007/s10815-025-03427-3","DOIUrl":"https://doi.org/10.1007/s10815-025-03427-3","url":null,"abstract":"<p><strong>Purpose: </strong>The objective of this study was to compare the effects of two warming protocols (three step vs. one-step) on re-expansion and post-warming survival of human blastocysts previously vitrified using the standard vitrification protocol.</p><p><strong>Methods: </strong>One hundred vitrified blastocysts were included in the study; 50 blastocysts were warmed using the standard warming protocol, and 50 were warmed using the diluted one-step warming protocol (DS 37 °C, 3 min; WS RT 5 min; culture dish until embryo transfer).</p><p><strong>Results: </strong>There was no significant difference in survival 2 h post-warming between the standard warming protocol and the diluted one-step warming protocol (98% vs 94%; p = 0.3), nor was there any difference in the number of embryos that were completely re-expanded, hatching or hatched when evaluated 2 h post-warming (84% vs 80%; p = 0.6). Those results indicate that vitrified blastocysts were able to survive equally between the two investigated protocols.</p><p><strong>Conclusion: </strong>The diluted one-step warming of vitrified blastocysts in 0.5 M sucrose showed no negative effects on embryo re-expansion and post-warming embryo survival when compared with the standard warming method. Therefore, the elimination of the first step of the standard warming procedure (TS, 37 °C, 1 min), the most difficult at a practical level, not only allows the reduction of the execution time, but above all, reduces the learning curve while maintaining effectiveness.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143557091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lingjie Jiang, Liang Wen, Xiaojuan Lv, Nan Tang, Yuan Yuan
{"title":"Comparative efficacy of intrauterine infusion treatments for recurrent implantation failure: a network meta-analysis of randomized controlled trials.","authors":"Lingjie Jiang, Liang Wen, Xiaojuan Lv, Nan Tang, Yuan Yuan","doi":"10.1007/s10815-025-03436-2","DOIUrl":"https://doi.org/10.1007/s10815-025-03436-2","url":null,"abstract":"<p><strong>Objective: </strong>Recurrent implantation failure (RIF) is a significant challenge in assisted reproductive technology (ART), affecting many women undergoing in vitro fertilization (IVF). This study aims to compare the efficacy of various intrauterine infusion treatments, including granulocyte colony-stimulating factor (G-CSF), platelet-rich plasma (PRP), human chorionic gonadotropin (HCG), and peripheral blood mononuclear cells (PBMCs), in improving clinical pregnancy rate (CPR), live birth rate (LBR), and miscarriage rate (MR) in women with RIF.</p><p><strong>Methods: </strong>A comprehensive search was conducted in multiple databases, including Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, Embase, Web of Science, and China National Knowledge Internet (CNKI), to identify randomized controlled trials (RCTs) evaluating the efficacy of intrauterine infusion treatments for RIF. Data extraction and quality assessment were performed independently by two reviewers. Network meta-analysis was conducted using a random-effects model to compare the outcomes of different treatments.</p><p><strong>Results: </strong>A total of 25 RCTs involving 3035 patients were included in the network meta-analysis. The treatments involved G-CSF, PRP, HCG, PBMCs, placebo, and blank control. The results of the network meta-analysis for CPR and LBR were statistically significant among treatments, but there was no statistical significance in MR. The surface under cumulative ranking curve (SUCRA) ranking of CPR and LBR showed that intrauterine infusion treatments of G-CSF, PRP, HCG, and PBMCs were much better than placebo and blank. The SUCRA values of CPR were ranked probabilistically from high to low as follows: PRP (84.5%) > PBMCs (76.5%) > G-CSF (65.7%) > HCG (52.5%) > placebo (20.8%) > blank (0.1%). The SUCRA values of LBR were ranked probabilistically from high to low as follows: PRP (81.4%) > PBMCs (64.6%) > G-CSF (58.0%) > HCG (48.7%) > placebo (42.4%) > blank (4.9%).</p><p><strong>Conclusion: </strong>All these findings confirmed that intrauterine infusions of PRP and PBMCs significantly improve pregnancy outcomes in women with RIF. PRP emerged as the most effective treatment. However, to establish the most effective approach for managing patients with RIF, future research should prioritize direct and robust comparisons between PRP and other therapeutic strategies, ensuring a comprehensive evaluation of their relative efficacy.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The combined effect between environmental exposure and oxidative stress-related susceptible gene polymorphisms on human semen quality.","authors":"Shuangshan Wu, Rui Yang, Huaqiong Bao, Youzhu Li, Wei Chen, Huiru Li, Hanyan Xi, Yan Sun, Yan-Yang Lu, Qingyu Huang, Meiping Tian","doi":"10.1007/s10815-025-03414-8","DOIUrl":"https://doi.org/10.1007/s10815-025-03414-8","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the current study was to investigate the relationship between environmental factors and metabolic gene genotypes related to semen quality.</p><p><strong>Methods: </strong>A total of 341 men were recruited and classified into normal or abnormal semen quality groups according to the World Health Organization's 2010 criteria. Alcohol and tobacco use among men was self-reported. Pb (lead), As (arsenic), Ti (titanium), and Zn (zinc) metal elements in seminal plasma were measured using inductively coupled plasma mass spectrometry (ICP-MS). The ALDH2 rs671 and GSTP1 rs1695 polymorphism were detected using high-resolution melting (HRM) PCR.</p><p><strong>Results: </strong>Individual environmental factors, including smoking, drinking, and exposure to Pb, As, Ti, or Zn, did not significantly associate with the risk of semen abnormalities. The ALDH2 GA/AA mutation genotype increased the risk of semen abnormalities in smoking males (AOR = 1.27; 95% CI, 1.01-1.62) and in males with high seminal Ti levels (AOR = 1.36; 95% CI, 1.00-1.90). The GSTP1 rs1695 gene (GG/AG) mutation genotype exhibited a protective effect on semen quality in males who did not consume alcohol (AOR = 0.65; 95% CI, 0.51-0.85) or smoke (AOR = 0.79; 95% CI, 0.61-1.00), as well as in those with low Pb (AOR = 0.63; 95% CI, 0.46-0.88) and Ti (AOR = 0.64; 95% CI, 0.47-0.90) exposure.</p><p><strong>Conclusions: </strong>The current study demonstrated that genetic and environmental factors interact with semen quality, and that men with the ALDH2 rs671A or GSTP1 rs1695A allele are susceptible to Ti-, alcohol-, and tobacco-induced semen quality abnormalities.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}