Journal of Assisted Reproduction and Genetics最新文献

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Preimplantation genetic testing and disorders of placental implantation: a systematic review and meta-analysis.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-13 DOI: 10.1007/s10815-025-03441-5
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}
引用次数: 0
IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles. 接受单基因植入前基因检测(PGT-M)的试管婴儿成功率:对 572 个试管婴儿周期进行的单中心回顾性队列研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-11 DOI: 10.1007/s10815-025-03416-6
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}
引用次数: 0
A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-10 DOI: 10.1007/s10815-025-03443-3
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}
引用次数: 0
Analysis of pregnancy outcomes in patients with unexplained recurrent miscarriage assisted by IVF/ICSI with or without PGT-A.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-07 DOI: 10.1007/s10815-025-03438-0
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}
引用次数: 0
Perspectives and clinical practices on fertility preservation for young hematologic patients: a qualitative study of healthcare providers across multiple hospitals in China.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-07 DOI: 10.1007/s10815-024-03380-7
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}
引用次数: 0
A diluted one-step warming protocol: survival of vitrified blastocyst.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-05 DOI: 10.1007/s10815-025-03427-3
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}
引用次数: 0
Comparative efficacy of intrauterine infusion treatments for recurrent implantation failure: a network meta-analysis of randomized controlled trials.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-04 DOI: 10.1007/s10815-025-03436-2
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}
引用次数: 0
The combined effect between environmental exposure and oxidative stress-related susceptible gene polymorphisms on human semen quality.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-04 DOI: 10.1007/s10815-025-03414-8
Shuangshan Wu, Rui Yang, Huaqiong Bao, Youzhu Li, Wei Chen, Huiru Li, Hanyan Xi, Yan Sun, Yan-Yang Lu, Qingyu Huang, Meiping Tian
{"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}
引用次数: 0
The first comparative study on the effectiveness of slow freezing and vitrification of human ovarian tissue by xenotransplantation model in Vietnam.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-03 DOI: 10.1007/s10815-025-03439-z
Thi Minh Chau Le, Thi Hanh Dung Tran, Van Phuc Pham, Thanh Long Dang, Khue Tu Duong, Thanh Tan Hua, Thi Ngoc Tuyen Huynh, Thi Hong Nhung Nguyen, Quang Thanh Le, Ba My Nhi Nguyen, Minh Tuan Vo, Phuc Thinh Ong, Nguyen The Nguyen Pham, Christiani Andrade Amorim
{"title":"The first comparative study on the effectiveness of slow freezing and vitrification of human ovarian tissue by xenotransplantation model in Vietnam.","authors":"Thi Minh Chau Le, Thi Hanh Dung Tran, Van Phuc Pham, Thanh Long Dang, Khue Tu Duong, Thanh Tan Hua, Thi Ngoc Tuyen Huynh, Thi Hong Nhung Nguyen, Quang Thanh Le, Ba My Nhi Nguyen, Minh Tuan Vo, Phuc Thinh Ong, Nguyen The Nguyen Pham, Christiani Andrade Amorim","doi":"10.1007/s10815-025-03439-z","DOIUrl":"https://doi.org/10.1007/s10815-025-03439-z","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the effectiveness of slow freezing (SF) and vitrification (VT) for ovarian tissue cryopreservation using a xenograft model.</p><p><strong>Methods: </strong>From September 2020 to August 2023, ovarian tissues from patients aged 18 to 37 undergoing benign ovarian surgery were divided into three groups. Group 1: fresh tissues (FC) were immediately fixed for analysis. Group 2 (SF/VT): tissues were cryopreserved by SF or VT without transplantation. Group 3 (SF-T/VT-T): tissues were cryopreserved using SF or VT, followed by transplantation into NOD-SCID mice for one week, after which the tissues were collected and analyzed.</p><p><strong>Results: </strong>A total of 49 ovarian tissue fragments were analyzed. Regardless of the cryopreservation technique, follicle survival, development, function, and vascularization were significantly reduced compared to the FC group, particularly after transplantation (p < 0.001). The survival rate of follicles in the SF-T group was notably higher (90.9%) than in the VT-T group (82.6%) (p < 0.001). For cell proliferation, indicated by Ki-67 positivity, the SF-T group showed a higher median number of positive follicles (2.5; range: 0-18) compared to the VT-T group (2; range: 0-11) (p = 0.04). Neo-vascularization, assessed via CD31 positivity, was significantly greater in the SF-T group (61%) than in the VT-T group (47%) (p = 0.016). Additionally, the median number of AMH-positive follicles was significantly higher in the SF-T group (3; range: 0-23) compared to the VT-T group (2; range: 0-25) (p = 0.03).</p><p><strong>Conclusion: </strong>Both SF and VT are feasible methods for ovarian tissue cryopreservation. SF may be the preferred cryopreservation technique for fertility preservation in cases tissue transplantation is anticipated.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542089","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}
引用次数: 0
Heterologous expression of bovine histone H1foo into porcine fibroblasts alters the transcriptome profile but not embryo development following nuclear transfer.
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-03-03 DOI: 10.1007/s10815-025-03437-1
Mariana Priotto de Macedo, Werner Giehl Glanzner, Karina Gutierrez, Luke Currin, Vitor Braga Rissi, Hernan Baldassarre, Serge McGraw, Vilceu Bordignon
{"title":"Heterologous expression of bovine histone H1foo into porcine fibroblasts alters the transcriptome profile but not embryo development following nuclear transfer.","authors":"Mariana Priotto de Macedo, Werner Giehl Glanzner, Karina Gutierrez, Luke Currin, Vitor Braga Rissi, Hernan Baldassarre, Serge McGraw, Vilceu Bordignon","doi":"10.1007/s10815-025-03437-1","DOIUrl":"https://doi.org/10.1007/s10815-025-03437-1","url":null,"abstract":"<p><strong>Purpose: </strong>Somatic cell nuclear transfer (SCNT) is a valuable tool for investigating reprogramming mechanisms and creating animal clones for applications in production, conservation, companionship, and biomedical research. However, SCNT efficiency remains low. Expression of nuclear proteins associated with an undifferentiated chromatin state, such as the oocyte-specific variant of the linker histone H1 (H1foo), represents a strategy for improving reprogramming outcomes, but this approach has not been tested in the context of SCNT.</p><p><strong>Methods: </strong>Bovine H1foo (bH1foo) was transfected into porcine fibroblasts via electroporation for expression until SCNT. The transcriptomic profile of these cells was analyzed, and their potential as donor cells for SCNT was evaluated 48 h post-electroporation.</p><p><strong>Results: </strong>Strong nuclear localization of bH1foo persisted for 48 h post-electroporation. A total of 447 genes were differentially expressed, and lower levels of H3K4me3 and H3K27me3 were detected in bH1foo-expressing cells, indicating changes in chromatin remodeling and function. Embryo development and total cell number per blastocyst were similar between SCNT embryos produced with control and bH1foo-expressing cells. mRNA levels of genes involved in embryonic genome activation were comparable between embryos derived from control and bH1foo-expressing cells on days 3 and 4 of development, suggesting that bH1foo did not disrupt this critical process.</p><p><strong>Conclusions: </strong>The heterologous expression of bovine H1foo altered the chromatin function of porcine fibroblasts without impairing development to the blastocyst stage following SCNT. These results highlight the potential of expressing nuclear proteins as a strategy to enhance cell reprogramming and cloning efficiency, including interspecies cloning applications.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537215","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}
引用次数: 0
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