Journal of Assisted Reproduction and Genetics最新文献

{"title":"Infection with SARS-CoV-2 during the first trimester did not adversely impact perinatal and obstetric outcomes subsequent to in vitro fertilization with frozen embryo transfer: a retrospective cohort study.","authors":"Jie Zhang, Jing Ye, Hongyuan Gao, Xiaoyan Mao, Ling Wu","doi":"10.1007/s10815-025-03390-z","DOIUrl":"10.1007/s10815-025-03390-z","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the impact of first-trimester COVID-19 infection on the perinatal and obstetric outcomes following in vitro fertilization-frozen embryo transfer.</p><p><strong>Methods: </strong>This retrospective study was conducted at a university-affiliated IVF center. The infection group included women who contracted SARS-CoV-2 during the first trimester following frozen embryo transfer in China's initial pandemic wave that occurred from 7 December 2022 to 7 January 2023. The control group consisted of pregnant women from the pre-pandemic period, considering the widespread incidence of the disease among the Chinese population during such a large outbreak. The primary outcome was perinatal and obstetric parameters.</p><p><strong>Results: </strong>A total of 346 pregnant women who tested positive for COVID-19 during the first trimester were included in the analysis, while the control group comprised 705 uninfected women (pre-COVID-19 controls). Perinatal outcomes, such as preterm birth, low birthweight, birthweight Z scores, macrosomia, small for gestational age, large for gestational age, and congenital malformations, showed no significant differences between the infected and control groups in both the unadjusted and confounder-adjusted logistic regression models. Additionally, there were no significant differences between the groups concerning obstetric complications, including gestational diabetes mellitus, hypertensive disorders of pregnancy, placenta previa, preterm premature rupture of the membrane, and mode of delivery.</p><p><strong>Conclusion: </strong>The current study demonstrated that contracting COVID-19 during the first trimester did not adversely impact future obstetric and perinatal outcomes following in vitro fertilization-frozen embryo transfer. This data holds practical significance and offers essential insights for reproductive specialists and obstetricians advising expectant mothers.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"589-598"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ovarian function after COVID-19: long-term effects and vaccine safety in ART patients.","authors":"Yamila Herrero, Candela Velazquez, Natalia Pascuali, Vanesa Hauk, Ignacio de Zúñiga, Gustavo Martínez, Mariano Lavolpe, Fernando Neuspiller, María Florencia Veiga, Leopoldina Scotti, Dalhia Abramovich, Fernanda Parborell","doi":"10.1007/s10815-025-03403-x","DOIUrl":"10.1007/s10815-025-03403-x","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate the long-term impact of mild COVID-19 infection and COVID-19 vaccination on ovarian function in patients undergoing assisted reproductive technology (ART). Specifically, we assessed ovarian outcomes between 9 and 18 months post-infection and investigated the effects of COVID-19 vaccines (inactivated virus and adenovirus) on reproductive parameters.</p><p><strong>Methods: </strong>The study included two objectives: (a) examining ovarian function in post-COVID-19 patients (9-18 months post-infection) compared to a control group and (b) comparing reproductive outcomes in vaccinated versus unvaccinated patients. According to the study objectives, ART patients were divided into the following groups: a control group (n = 30), a post-COVID-19 group (n = 55), an unvaccinated group (n = 70), and a vaccinated group (n = 55). Findings revealed a reduction in the number of retrieved and mature oocytes in patients over 36 years in the post-COVID-19 group. Lower IL-1β levels were found in follicular fluid (FF) of post-COVID-19 patients, while VEGF levels were reestablished between 9 and 18 months post-infection. Although cell migration was reduced in endothelial cells incubated with post-COVID-19 FF, angiogenic factor levels and DNA integrity remained stable. No significant differences in retrieved or mature oocytes were observed between vaccinated and unvaccinated patients.</p><p><strong>Conclusions: </strong>VEGF levels and DNA integrity in FF from post-COVID-19 patients were normalized between 9 and 18 months post-infection. Additionally, COVID-19 vaccination did not negatively impact ovarian response in ART patients, supporting vaccine safety in reproductive contexts.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"563-576"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical utilization and outcomes over eight consecutive years following oocyte cryopreservation.","authors":"Gayathree Murugappan, Mark Sikder, Sergio Vaccari, Debra Minjarez, Nam Tran, Julia Kim, Peter Klatsky","doi":"10.1007/s10815-024-03334-z","DOIUrl":"10.1007/s10815-024-03334-z","url":null,"abstract":"<p><strong>Objective: </strong>To compare embryologic and clinical outcomes following oocyte cryopreservation (OC) and immediate fertilization for embryo cryopreservation (EC) in non-infertile patients.</p><p><strong>Design: </strong>Retrospective cohort study SUBJECTS: Patients treated at a single fertility center from 2016 to 2023.</p><p><strong>Exposure: </strong>OC MAIN OUTCOME MEASURES: Blastocyst development was compared between women undergoing OC and non-infertile women undergoing immediate fertilization for EC between 18 and 42 years of age. ICSI, PGT-A, and eSET were used in all cycles.</p><p><strong>Results: </strong>Outcomes from 3697 thawed MII oocytes obtained from 239 OC patients were compared to 28,959 fresh MII oocytes obtained from 2031 patients undergoing immediate fertilization for EC. Average thaw MII survival rate was 92% and high across age groups. Post-thaw oocytes demonstrate lower fertilization rate compared to fresh oocytes (85% v 90%, p < 0.05). As oocyte age increased, the mean number of MII used per blastocyst increased to a greater extent among thawed compared to fresh oocytes (2.9 v 2.2 MII age 18-34, 3.3 v 2.5 MII age 34-37, 3.9 v 2.9 MII age 38-40, 7.5 v 3.9 MII age 41-42, p < 0.05). Among patients achieving transfer of a euploid blastocyst, clinical pregnancy rate and live birth rate per transfer were similar using thawed and fresh oocytes (p = 0.82 and p = 0.79, respectively).</p><p><strong>Conclusions: </strong>Blastocyst conversion is lower from thawed oocytes compared to fresh oocytes. Differences in blastocyst development between thawed and frozen oocytes increase with advancing oocyte age, suggesting that older oocytes may be less efficient in their conversion to blastocysts after vitrification and warming.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"413-421"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871152/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medical treatment before in-vitro fertilization in patients with adenomyosis: a systematic review and meta-analysis.","authors":"Giulia Galati, Carlotta Olivieri, Martina Cosentino, Ilham Azenkoud, Sara Cugini, Giuseppe Sorrenti, Giuseppe Rizzo, Ludovico Muzii","doi":"10.1007/s10815-024-03323-2","DOIUrl":"10.1007/s10815-024-03323-2","url":null,"abstract":"<p><p>The objective of this study is to evaluate if medical treatment before assisted reproductive technology (ART) improves the results in infertile patients with adenomyosis. A literature search was performed with EMBASE, PubMed, and Cochrane. The primary outcome was clinical pregnancy rate (CPR). Secondary outcomes were live birth rate (LBR) per cycle and miscarriage rate (MR) after ART with or without medical pretreatment. Additionally, a comparison was made between women undergoing medical pretreatment before frozen embryo transfer (FET) and those who underwent FET alone, including any type of endometrial preparation. Ten studies were included. The present meta-analysis supports the use of long-term GnRH agonist therapy in patients with adenomyosis, which enhances the CPR (odds ratio (OR) 1.49, 95% CI 1.15 to 1.92) in IVF/ICSI with fresh ET, while the comparison in women undergoing FET cycles did not reach statistical significance (OR 1.34 95% CI 0.70-2.55). Pretreatment with GnRH agonist did not demonstrate a benefit on the LBR and MR per cycle in IVF/ICSI with fresh ET in comparison to standard ovarian stimulation protocols. Similar results were observed in the setting of FET, failing to indicate a superiority of GnRH agonist pretreatment over standard FET protocols for LBR and MR. In conclusion, GnRH agonist pretreatment before ART carries a potential benefit in improving outcomes in terms of higher CPR, but there is no significant impact on LBR and MR. Pretreatment with GnRH agonists could be adopted as a possible alternative ART protocol in selected patients with adenomyosis and infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"381-388"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duration of cryostorage is not associated with rates of thaw survival, fertilization, blastulation and ploidy, or pregnancy outcomes of vitrified human oocytes.","authors":"Sarah Roger, Samantha Estevez, Carlos Hernandez-Nieto, Shawn Kripalani, Atoosa Ghofranian, Morgan Baird, Joseph Lee, Richard Slifkin, Christine Briton-Jones, Alan Copperman, Rachel Danis","doi":"10.1007/s10815-024-03350-z","DOIUrl":"10.1007/s10815-024-03350-z","url":null,"abstract":"<p><strong>Purpose: </strong>This study is to evaluate duration of oocyte cryostorage and association with thaw survival, fertilization, blastulation, ploidy rates, and pregnancy outcomes in patients seeking fertility preservation.</p><p><strong>Methods: </strong>Retrospective cohort study to evaluate clinical outcomes in patients who underwent fertility preservation from 2011 to 2023 via oocyte vitrification for non-oncologic indications. Primary outcome was thaw survival rate. Secondary outcomes included rates of fertilization, blastulation and embryo ploidy, as well asn pregnancy outcomes. Demographic, controlled ovarian stimulation, and laboratory data were collected for each patient. Analyses were conducted using Kruskal-Wallis, Fisher's exact test, or Chi-squared test, as appropriate. A multivariate logistic regression analysis was utilized, and adjusted odds ratios with 95% confidence intervals were calculated using Group A as the reference group.</p><p><strong>Results: </strong>A total of 5995 oocytes met inclusion criteria. These were divided into quartiles based on duration of cryostorage. Group A included oocytes in cryostorage for 0-2 years; Group B, 3-5 years; and Group C, 6-11 years. Significant differences were found when comparing thaw survival (p < 0.0001), fertilization (p = 0.0009), and blastulation rates (p = 0.0002) among groups; however, no significant differences were seen after multivariate GEE regression analysis. No significant differences were seen in rates of euploidy (p = 0.70), live birth (p = 0.81), and clinical pregnancy (p = 0.58) among groups. After analyzing years in cryostorage as a continuous variable and controlling for confounders, duration of cryostorage was not related to odds of thaw, fertilization, blastulation, euploid rates, or pregnancy outcomes.</p><p><strong>Conclusion: </strong>Length of time in cryostorage is not associated with compromised rates of oocyte thaw survival, fertilization, blastulation, ploidy, or pregnancy outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"525-532"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142925986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.","authors":"Zhijin Hou, Fangjie Jiang, Wenan Li, Shenglan Fu, Yushi Meng","doi":"10.1007/s10815-024-03366-5","DOIUrl":"10.1007/s10815-024-03366-5","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the genetic etiology in an infertile patient presenting with consistently elevated progesterone levels.</p><p><strong>Methods: </strong>Genomic DNA was extracted from the patient's blood sample and subjected to whole-genome sequencing (NGS) using the Illumina NovaSeq platform. Bioinformatic analyses were conducted to identify single nucleotide variants (SNVs) and insertion-deletion mutations (Indels) potentially associated with the patient's clinical phenotype. These variants were subsequently validated using Sanger sequencing. To further assess the functional implications of these genetic variants, three-dimensional protein structure simulations and substrate molecular docking analyses were performed on the variant proteins.</p><p><strong>Results: </strong>A point mutation, c.1096 G > T (p.Val366Leu), was identified in the patient's CYP17A1 gene. Compared to the wild type, the mutant exhibited no significant changes in the overall or local three-dimensional structure, and molecular docking analysis showed no notable difference in binding energy. A literature review indicated that this mutation site is located in the region where the CYP17A1 enzyme interacts with cytochrome b5 (Cyt b5).</p><p><strong>Conclusions: </strong>We report, for the first time, that a novel mutation in the CYP17A1 gene in an infertile woman may have led to isolated 17,20-lyase deficiency. The patient successfully achieved pregnancy and delivered a healthy baby through in vitro fertilization (IVF).</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"679-686"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does double cryopreservation as well as double biopsy affect embryo viability and clinical outcomes? Evidence from a systematic review of the literature.","authors":"Alessandro Bartolacci, Carmine Vitiello, Sofia de Girolamo, Enrico Papaleo, Luca Pagliardini","doi":"10.1007/s10815-025-03398-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03398-5","url":null,"abstract":"<p><p>This study evaluates the effects of double cryopreservation and re-biopsy on embryo viability and clinical outcomes. Studies of interest were selected from an initial cohort of 1027 potentially relevant records retrieved. PubMed was systematically searched for peer-reviewed original papers identified by keywords and medical subject heading terms. Moreover, we elaborated the evidence tables for double cryopreservation and re-biopsy separately. Data were systematically extracted, focusing on live birth, survival, clinical pregnancy, and miscarriage rates. For each study, we identified absolute numbers (numerator and denominator) related to clinical outcomes. Finally, for each outcome, we calculated the percentage change between the control and study groups. Among studies on double cryopreservation, 13 out of 22 reported no effect on clinical outcomes, suggesting contradictory results. Similarly, findings on re-biopsy were controversial, with seven out of 12 studies showing negative effects on survival and clinical outcomes, while five reported no impact. In our analysis of the evidence tables, we observed a reduction in live birth rates of 22.2% and 39.3% in blastocysts undergoing double vitrification and re-biopsy, respectively. These findings suggest that repeated micromanipulations can impair embryo competence. Therefore, double cryopreservation and re-biopsy should be limited in the selected cases without other options by consulting patients about the possible harmful effects.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074695","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":"FertilitY Predictor-a machine learning-based web tool for the prediction of assisted reproduction outcomes in men with Y chromosome microdeletions.","authors":"Stacy Colaco, Priyanka Narad, Ajit Kumar Singh, Payal Gupta, Alakto Choudhury, Abhishek Sengupta, Deepak Modi","doi":"10.1007/s10815-024-03338-9","DOIUrl":"10.1007/s10815-024-03338-9","url":null,"abstract":"<p><strong>Purpose: </strong>Y chromosome microdeletions (YCMD) are a common cause of azoospermia and oligozoospermia in men. Herein, we developed a machine learning-based web tool to predict sperm retrieval rates and success rates of assisted reproduction (ART) in men with YCMD.</p><p><strong>Methods: </strong>Data on ART outcomes of men with YCMD who underwent ART were extracted from published studies by performing a systematic review. This data was used to develop a web-based predictive algorithm using machine learning.</p><p><strong>Results: </strong>FertilitY Predictor classifies the type of YCMD into AZFa, AZFb, AZFc, their combinations, and gr/gr deletions based on the genetic markers as input. Further, it predicts the probability of sperm retrieval, fertilization rate, clinical pregnancy rate, and live birth rate based on the type of YCMD. Validation studies demonstrated its high accuracy and predictability for sperm retrieval, clinical pregnancy rates, and live birth rates. The tool predicts that men with deletions have a chance of sperm retrieval that varies with type of deletions, the clinical pregnancy rates and live birth rates are lower in men with AZF deletions. A trial version of the tool is available at http://fertilitypredictor.sbdaresearch.in .</p><p><strong>Conclusions: </strong>FertilitY Predictor allows users to classify AZFa, AZFb, AZFc, and gr/gr deletions and also predict the outcomes of ART based on the type of deletions.</p><p><strong>Trial registration: </strong>PROSPERO (CRD42022311738).</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"473-481"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of SARS-CoV-2 on the male reproductive tract: insights from semen analysis and cryopreservation.","authors":"Silvia Giugliano, Alessandro M Mozzarelli, Annalisa Navarra, Gabriele De Simone, Maria Rescigno, Paolo E Levi-Setti, Elena Albani","doi":"10.1007/s10815-024-03321-4","DOIUrl":"10.1007/s10815-024-03321-4","url":null,"abstract":"<p><strong>Purpose: </strong>Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus behind the COVID-19 pandemic, affects multiple organs, including the male reproductive system. While viral infections can harm male fertility through cytokine storms, the effects of SARS-CoV-2 on fertility are still unclear. Thus, this study aimed to examine the persistence of viral RNA and inflammatory responses in semen following SARS-CoV-2 infection and the safety of conventional freezing and vitrification techniques.</p><p><strong>Methods: </strong>Semen samples from 20 patients were collected 3 months post-SARS-CoV-2 infection. Samples underwent freezing and vitrification. Molecular and cellular analysis separated seminal plasma and pellets. Flow cytometry characterized immune cells. Viral RNA was extracted from plasma and sperm, followed by RT-qPCR. Cytometric Bead Array measured cytokine levels.</p><p><strong>Results: </strong>Angiotensin-converting enzyme 2 (ACE2) and transmembrane serine protease 2 (TMPRSS2) receptors were detected in both plasma and sperm fractions. Five patients exhibited viral RNA-dependent RNA polymerase, indicating potential persistence. Elevated inflammatory cytokines in plasma implied persistent inflammation affecting sperm vitality. Immune cells associated with viral clearance were identified in semen, correlating with receptor expression and cytokines. Both conventional freezing and vitrification were found safe procedures for preserving male fertility.</p><p><strong>Conclusions: </strong>Our study highlights the impact of SARS-CoV-2 on male reproductive health, emphasizing the persistence of viral entry receptors, potential viral RNA presence, the inflammatory environment, and the involvement of immune populations in the male reproductive tract post-infection. Importantly, we confirm the safety of conventional freezing and vitrification techniques for preserving male fertility in assisted reproductive technology programs amidst the COVID-19 pandemic.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"577-587"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FXYD1 was identified as a hub gene in recurrent miscarriage and involved in decidualization via regulating Na/K-ATPase activity.","authors":"Jie Gan, Long Yang, Shu-Han Yang, Wen-Wen Gu, Yan Gu, Yan Shi, Jia-Xin Shi, Hao-Ran Xu, Ya-Wei Xin, Xuan Zhang, Jian Wang","doi":"10.1007/s10815-024-03363-8","DOIUrl":"10.1007/s10815-024-03363-8","url":null,"abstract":"<p><strong>Purpose: </strong>Recurrent miscarriage (RM) is a distressing and complicated adverse pregnancy outcome. It is commonly recognized that insufficient decidualization could result in RM, but the molecular mechanisms of decidual impairment are still not fully understood. Thus, this study aimed to identify novel key genes potentially involved in RM and explore their roles played in endometrial decidualization.</p><p><strong>Methods: </strong>Initially, a combinative analysis of decidual and mid-secretory endometrial transcriptomes was performed to discover hub genes involved in the etiology of RM. And the expression levels of hub genes were evaluated in both primary decidual stromal cells (DSCs) and decidual tissues. Subsequently, the immortalized human endometrial cell line, T-HESCs, was used to investigate whether FXYD1 overexpression affects decidualization by regulating Na/K-ATPase activity.</p><p><strong>Results: </strong>FXYD domain containing ion transport regulator 1 (FXYD1) was identified as a hub gene in the pathogenesis of RM through various bioinformatic methods. Abnormally increased FXYD1 expression was observed in DSCs and decidual tissues from RM patients compared to that of the normal group. Furthermore, in vitro decidualization was obviously inhibited by the overexpression of FXYD1. Additionally, Na/K-ATPase activity was significantly elevated during decidualization, whereas overexpression of FXYD1 reduced Na/K-ATPase activity. Bufalin, a Na/K-ATPase inhibitor, showed an effectively inhibitory effect on decidualization.</p><p><strong>Conclusions: </strong>Collectively, FXYD1 was discovered as a hub gene associated with RM, and its expression levels in RM patients were significantly upregulated. Increased FXYD1 expression might lead to decidualization defects by reducing Na/K-ATPase activity, of which presented a novel prospective treatment target for RM.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":"665-678"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}