Journal of Assisted Reproduction and Genetics最新文献

{"title":"Cryopreservation, cryoprotectants, and potential risk of epigenetic alteration.","authors":"Romualdo Sciorio, Clementina Cantatore, Giuseppe D'Amato, Gary D Smith","doi":"10.1007/s10815-024-03287-3","DOIUrl":"https://doi.org/10.1007/s10815-024-03287-3","url":null,"abstract":"<p><p>The cryopreservation of gametes and embryos has increased notably over the past 20 years and is now an essential part of assisted reproductive technologies (ARTs). However, because the cryopreservation process is un-physiological for human cells, gametes, and embryos, cryobiologists have suggested diverse methods to successfully cryopreserve human gametes and embryos in order to maintain their viability and assure successful pregnancy. During the first period of early development, major waves of epigenetic reprogramming-crucial for the fate of the embryo-occur. Recently, concerns relating to the increased incidence of epigenetic anomalies and genomic-imprinting disorders have been reported after ARTs and cryopreservation. Epigenetic reprogramming is particularly susceptible to environmental and un-physiological conditions such as ovarian stimulation, embryo culture, and cryopreservation that might collectively affect epigenetics dysregulation. Additionally, recent literature suggests that epigenetic and transcriptomic profiles are sensitive to the stress induced by vitrification, osmotic shock, oxidative stress, rapid temperature and pH changes, and cryoprotectants; it is therefore critical to have a more comprehensive understanding of the potential induced perturbations of epigenetic modifications that may be associated with vitrification. The aim of this paper is to present a critical evaluation of the association of gamete and embryo cryopreservation, use of cryoprotectants, and epigenetic dysregulations with potential long-term consequences for offspring health.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466407","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":"Metabolomic signature of sperm in men with obesity-associated asthenozoospermia.","authors":"Yuyang Hou, Jingjie Wang, Mengyue Pan, Yanfen Zhou, Yupeng Wang, Jiaxi Chen, Mengling Zhong, Xin Li, Qi Zhang","doi":"10.1007/s10815-024-03294-4","DOIUrl":"https://doi.org/10.1007/s10815-024-03294-4","url":null,"abstract":"<p><strong>Purpose: </strong>Obese men have a significantly increased risk of developing asthenozoospermia. Sperm motility is directly related to cellular energy supply and metabolic status. Sperm metabolomics research based on Gas chromatography-mass spectrometry (GC-MS) technology can provide useful information for the pathological mechanism, diagnosis, and treatment of obesity-associated asthenozoospermia.</p><p><strong>Methods: </strong>Sperm samples were obtained from a healthy control group (n = 49) and patients with obesity-associated asthenozoospermia (n = 40). After the analysis of sperm samples using GC-MS, various multivariate statistical methods such as principal component analysis (PCA), partial least squares-discriminant analysis (PLS-DA), and orthogonal partial least squares-discriminant analysis (OPLS-DA) were conducted.</p><p><strong>Results: </strong>A total of 56 metabolites were identified in the sperm samples. Among them, 19 differential metabolites were found between the two groups. Metabolites such as glutamic acid, fumaric acid, and cysteine were significantly downregulated in the sperm of patients with obesity-associated asthenozoospermia, while metabolites like palmitic acid, stearic acid, and alanine were significantly upregulated. The differential metabolites were enriched in D-glutamine and D-glutamate metabolism; proline, aspartate, and glutamate metabolism; glutathione metabolism and the other metabolic pathways.</p><p><strong>Conclusion: </strong>Obesity may influence the composition of metabolic products in sperm, and metabolomic analysis proves beneficial for the future diagnosis and treatment of obesity-associated asthenozoospermia.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466320","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":"Pregnancy outcomes in patients with non-obstructive azoospermia undergoing micro-TESE: comparison of fresh vs. frozen-thawed testicular sperm.","authors":"Lala Suleymanova, Hale Bayram, Yaprak Dönmez Çakıl, Belgin Selam, Mehmet Cincik","doi":"10.1007/s10815-024-03291-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03291-7","url":null,"abstract":"<p><strong>Background: </strong>The relative merits of fresh or frozen testicular sperm in ICSI remain a matter of contention. This study aims to compare the reproductive outcomes of non-obstructive azoospermia patients undergoing ICSI using fresh and frozen-thawed microdissection testicular sperm extraction (micro-TESE) sperm.</p><p><strong>Methods: </strong>A total of 223 men with non-obstructive azoospermia underwent micro-TESE to collect testicular spermatozoa. ICSI cycles were performed using fresh and frozen-thawed spermatozoa. The cleavage states and grading of embryos, fertilization, and pregnancy outcomes were compared between the groups to assess the impact of cryopreservation of testicular spermatozoa on embryo quality and ICSI outcomes.</p><p><strong>Results: </strong>A total of 223 cases were evaluated, with fertilization observed in 208 cases and no fertilization observed in 15 cases. The number of day 3 total embryos and the number of cleavage embryos differed between the fresh and frozen micro-TESE groups, whereas the number of two-pronuclei oocytes, grading of embryos, fertilization, pregnancy, and live birth rates were found to be similar between the two groups.</p><p><strong>Conclusion: </strong>The cryopreservation of spermatozoa obtained by micro-TESE does not affect the fertilization rate or pregnancy outcome in cases of non-obstructive azoospermia. The present findings, when considered in conjunction with the extant evidence, may serve to alleviate concerns regarding the utilization of frozen-thawed micro-TESE sperm in patients with non-obstructive azoospermia.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466324","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":"Methodological approaches in 16S sequencing of female reproductive tract in fertility patients: a review.","authors":"I M Davidson, E Nikbakht, L M Haupt, K J Ashton, P J Dunn","doi":"10.1007/s10815-024-03292-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03292-6","url":null,"abstract":"<p><strong>Background: </strong>The female genital tract microbiome has become a particular area of interest in improving assisted reproductive technology (ART) outcomes with the emergence of next-generation sequencing (NGS) technology. However, NGS assessment of microbiomes currently lacks uniformity and poses significant challenges for accurate and precise bacterial population representation.</p><p><strong>Objective: </strong>As multiple NGS platforms and assays have been developed in recent years for microbiome investigation-including the advent of long-read sequencing technologies-this work aimed to identify current trends and practices undertaken in female genital tract microbiome investigations.</p><p><strong>Results: </strong>Areas like sample collection and transport, DNA extraction, 16S amplification vs. metagenomics, NGS library preparation, and bioinformatic analysis demonstrated a detrimental lack of uniformity. The lack of uniformity present is a significant limitation characterised by gap discrepancies in generation and interpretation of results. Minimal consistency was observed in primer design, DNA extraction techniques, sample transport, and bioinformatic analyses.</p><p><strong>Conclusion: </strong>With third-generation sequencing technology highlighted as a promising tool in microbiota-based research via full-length 16S rRNA sequencing, there is a desperate need for future studies to investigate and optimise methodological approaches of the genital tract microbiome to ensure better uniformity of methods and results interpretation to improve clinical impact.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466321","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":"No direct association between male infertility and multiple sclerosis: evidence from Mendelian randomization analysis.","authors":"Wanyi Shu, Yanggang Hong","doi":"10.1007/s10815-024-03295-3","DOIUrl":"https://doi.org/10.1007/s10815-024-03295-3","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466322","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":"Effect of follicle-stimulating hormone dose on the risk of being classified as suboptimal responders according to the POSEIDON criteria.","authors":"Alyssa Hochberg, Michael H Dahan, Hakan Yarali, Lan N Vuong, Sandro C Esteves","doi":"10.1007/s10815-024-03296-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03296-2","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study is to investigate the impact of daily follicle-stimulating-hormone (FSH) dose on the likelihood of suboptimal response to ovarian stimulation (OS) for in vitro fertilization (IVF) according to POSEIDON's criteria.</p><p><strong>Methods: </strong>A tri-center retrospective cohort study (2015-2017) including women with normal anti-Müllerian hormone (AMH ≥ 1.2 ng/mL) and antral follicle count (AFC ≥ 5) values per POSEIDON's criteria, undergoing their first IVF/ICSI cycle using conventional OS (FSH ≥ 150 IU/day). Suboptimal response was the retrieval of 4-9 oocytes. In previous research, we detected an AMH ≤ 2.97 ng/mL and AFC ≤ 12 as the optimal cut-offs predicting suboptimal response. Therefore, we examined the effect of daily FSH dose (≤ 300 IU versus > 300 IU) on suboptimal response risk for each AMH and AFC value within these thresholds (AMH between 1.20 and 2.97 ng/mL, by 0.01 ng/mL increments; and an AFC between 5 and 12, by unit increments). Analysis involved contingency tables and multivariable logistic regression.</p><p><strong>Results: </strong>Included were 4005 patients with AMH and AFC values in the specific range, among whom 2131 (53.2%) were suboptimal responders. Among 177 AMH groups analyzed, apart from three distributed irregularly, daily FSH doses > 300 IU versus lower doses (≤ 300 IU) did not decrease suboptimal response risk; similarly, higher doses did not decrease risk at the eight AFC values examined (p > 0.05 for all). Using multivariable logistic regression, FSH doses were not associated with suboptimal response risk. Conversely, female age, AMH, AFC, and gonadotropin type were associated with suboptimal response.</p><p><strong>Conclusions: </strong>In women with AMH values between 1.20 and 2.97 ng/mL and/or AFC between 5 and 12, FSH dose increase did not decrease suboptimal response risk. Individualizing the gonadotropin regimen and considering LH activity supplementation to FSH may mitigate risks.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466408","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":"Sperm histone modifications may predict success in human assisted reproduction: a pilot study.","authors":"M Y Cambiasso, M Romanato, L Gotfryd, G Rey Valzacchi, L Calvo, J C Calvo, V A Fontana","doi":"10.1007/s10815-024-03280-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03280-w","url":null,"abstract":"<p><strong>Purpose: </strong>Currently, assisted reproduction clinics employ various sperm selection techniques to identify the best sperm for fertilization. However, these techniques may not assess crucial sperm traits that can substantially impact embryonic quality. To address this, we propose analyzing diverse histone modifications as potential markers of sperm functionality and success in assisted reproduction techniques.</p><p><strong>Methods: </strong>Cross-sectional pilot study including infertile male patients attending an infertility clinic in CABA, Argentina between April and August 2019 was performed. We used immunofluorescence techniques to evaluate post-translational modifications of histones in sperm and established correlations with in vitro fertilization outcome and embryo quality.</p><p><strong>Results: </strong>Our findings indicate a negative correlation between H3K4me3 and H3K4me2 marks and fertilization rate and showed a positive correlation of this parameter with H3K9me mark. In addition, there was a positive correlation between H3K27me3 and good embryo quality.</p><p><strong>Conclusions: </strong>This pilot study proposes a non-invasive strategy to predict embryo quality by analyzing spermatozoa prior to fertilization. The assessment of histone post-translational modifications in sperm samples could provide useful information for the recognition of epigenetic marks that could predict the health of the embryo of an assisted fertilization treatment.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466326","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":"Genetic etiological spectrum of sperm morphological abnormalities.","authors":"Manvi Arora, Poonam Mehta, Shruti Sethi, George Anifandis, Mary Samara, Rajender Singh","doi":"10.1007/s10815-024-03274-8","DOIUrl":"https://doi.org/10.1007/s10815-024-03274-8","url":null,"abstract":"<p><strong>Purpose: </strong>Male infertility manifests in the form of a reduction in sperm count, sperm motility, or the loss of fertilizing ability. While the loss of sperm production can have mixed reasons, sperm structural defects, cumulatively known as teratozoospermia, have predominantly genetic bases. The aim of the present review is to undertake a comprehensive analysis of the genetic mutations leading to sperm morphological deformities/teratozoospermia.</p><p><strong>Methods: </strong>We undertook literature review for genes involved in sperm morphological abnormalities. The genes were classified according to the type of sperm defects they cause and on the basis of the level of evidence determined by the number of human studies and the availability of a mouse knockout.</p><p><strong>Results: </strong>Mutations in the SUN5, CEP112, BRDT, DNAH6, PMFBP1, TSGA10, and SPATA20 genes result in acephalic sperm; mutations in the DPY19L2, SPATA16, PICK1, CCNB3, CHPT1, PIWIL4, and TDRD9 genes cause globozoospermia; mutations in the AURKC gene cause macrozoospermia; mutations in the WDR12 gene cause tapered sperm head; mutations in the RNF220 and ADCY10 genes result in small sperm head; mutations in the AMZ2 gene lead to vacuolated head formation; mutations in the CC2D1B and KIAA1210 genes lead to pyriform head formation; mutations in the SEPT14, ZPBP1, FBXO43, ZCWPW1, KATNAL2, PNLDC1, and CCIN genes cause amorphous head; mutations in the SEPT12, RBMX, and ACTL7A genes cause deformed acrosome formation; mutations in the DNAH1, DNAH2, DNAH6, DNAH17, FSIP2, CFAP43, AK7, CHAP251, CFAP65, ARMC2 and several other genes result in multiple morphological abnormalities of sperm flagella (MMAF).</p><p><strong>Conclusions: </strong>Altogether, mutations in 31 genes have been reported to cause head defects and mutations in 62 genes are known to cause sperm tail defects.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466316","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":"Non-used cryopreserved sperm among oncological patients: extra-long-term follow-up and analysis.","authors":"Roy Bitan, Alon Kedem, Sarit Avraham, Michal Youngster, Gil Yerushalmi, Sarita Kaufman, Ana Umanski, Ariel Hourvitz, Itai Gat","doi":"10.1007/s10815-024-03290-8","DOIUrl":"https://doi.org/10.1007/s10815-024-03290-8","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate factors influencing long-term utilization and disposal patterns of cryopreserved semen straws in oncological patients.</p><p><strong>Methods: </strong>This retrospective study included all men who cryopreserved semen due to cancer between October 1993 and December 2021. To assess non-used cryopreserved sperm straws, we investigated the following parameters: cryopreserved semen and usage for fertility treatments versus disposal, summarized by total non-used cases. A Kaplan-Meier curve was used to describe last usage and disposal requests over a 15-year analysis. A Log-rank test was applied to compare between age and paternal status categories.</p><p><strong>Results: </strong>The cohort consisted of 445 patients. Of these, 55 patients utilized thawed semen for fertility treatments, and 65 opted for disposals, leaving 325 patients who neither used nor disposed of their cryopreserved straws. Our findings revealed a distinct pattern based on age, with the youngest age group (< 25 years) exhibiting significantly lower utilization and disposal rates compared to older patient groups. Additionally, men without children exhibited significantly fewer disposal requests compared to fathers. The median cryopreserved straws were 10 (interquartile range, 6 to 17), while the median used straws were only 2 (interquartile range, 2 to 6).</p><p><strong>Discussion: </strong>Our study brings attention to the additional and needless burden of preservation from both patient and preserved straw perspectives. Implementing a policy based on a cost-effective approach, incorporating time and straw limits, and considering demographic characteristics, could enhance efficiency and necessitate patient consent before preservation.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466323","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":"A review of artificial intelligence applications in in vitro fertilization.","authors":"Qing Zhang, Xiaowen Liang, Zhiyi Chen","doi":"10.1007/s10815-024-03284-6","DOIUrl":"https://doi.org/10.1007/s10815-024-03284-6","url":null,"abstract":"<p><p>The field of reproductive medicine has witnessed rapid advancements in artificial intelligence (AI) methods, which have significantly enhanced the efficiency of diagnosing and treating reproductive disorders. The integration of AI algorithms into the in vitro fertilization (IVF) has the potential to represent the next frontier in advancing personalized reproductive medicine and enhancing fertility outcomes for patients. The potential of AI lies in its ability to bring about a new era characterized by standardization, automation, and an improved success rate in IVF. At present, the utilization of AI in clinical practice is still in its early stages and faces numerous ethical, regulatory, and technical challenges that require attention. In this review, we present an overview of the latest advancements in various applications of AI in IVF, including follicular monitoring, oocyte assessment, embryo selection, and pregnancy outcome prediction. The aim is to reveal the current state of AI applications in the field of IVF, their limitations, and prospects for future development. Further studies, which involve the development of comprehensive models encompassing multiple functions and the conduct of large-scale randomized controlled trials, could potentially indicate the future direction of AI advancements in the field of IVF.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142466405","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}