Journal of Assisted Reproduction and Genetics最新文献

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The impact of double vitrification and warming procedures on pregnancy and neonatal outcomes following single euploid blastocyst transfer. 单整倍体囊胚移植后,双重玻璃化和加热程序对妊娠和新生儿结局的影响。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-14 DOI: 10.1007/s10815-025-03642-y
Miaomiao Jia, Juanzi Shi, Wenhao Shi, Xia Xue
{"title":"The impact of double vitrification and warming procedures on pregnancy and neonatal outcomes following single euploid blastocyst transfer.","authors":"Miaomiao Jia, Juanzi Shi, Wenhao Shi, Xia Xue","doi":"10.1007/s10815-025-03642-y","DOIUrl":"https://doi.org/10.1007/s10815-025-03642-y","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the impact of multiple vitrification-warming on clinical outcomes of embryos that have undergone preimplantation genetic testing (PGT).</p><p><strong>Methods: </strong>This retrospective, single-center study involved 512 single frozen euploid blastocyst transfer cycles conducted between January 2018 and January 2024. Using propensity score matching, 105 patients who underwent double vitrification-warming with single biopsy (DVSB) were matched in a 1:4 ratio with 407 patients in the control group, who underwent single biopsy with single vitrification-warming (SVSB). Post-warming suitability for biopsy and clinical outcomes of subsequent frozen-thawed embryo transfer (FET) cycles were evaluated. Obstetrical and neonatal outcomes were also assessed.</p><p><strong>Results: </strong>A total of 453 blastocysts were warmed, of which 417 (92.1%) exhibited sufficient quality to undergo trophectoderm biopsy. In FET cycles, a significant reduction in the live birth rate was observed with the additional vitrification-warming step (DVSB: 49.5% vs. SVSB: 61.2%). The pregnancy loss rate in the DVSB group was significantly higher compared to the SVSB group (20.6% vs. 12.2%). Neonatal outcomes, including sex ratio, preterm birth rate, and low birth weight rate, did not differ significantly between the two groups.</p><p><strong>Conclusion: </strong>This study suggests that the inclusion of an additional vitrification-warming step in PGT may adversely affect pregnancy outcomes. Furthermore, only a portion of thawed embryos are able to re-expand and progress to the biopsy stage. PGT patients should be informed that undergoing a second vitrification-warming cycle may reduce the likelihood of a successful pregnancy.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058410","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
Family-building patterns of proceduralist and non-proceduralist physicians. 程序主义医生与非程序主义医生的家庭建设模式。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-13 DOI: 10.1007/s10815-025-03611-5
Amelia G Kelly, Morgan S Levy, Padmaja Sundaram, Alyssa D Brown, Alberto J Caban-Martinez, Roohi Jeelani, Vineet M Arora, Arghavan Salles
{"title":"Family-building patterns of proceduralist and non-proceduralist physicians.","authors":"Amelia G Kelly, Morgan S Levy, Padmaja Sundaram, Alyssa D Brown, Alberto J Caban-Martinez, Roohi Jeelani, Vineet M Arora, Arghavan Salles","doi":"10.1007/s10815-025-03611-5","DOIUrl":"10.1007/s10815-025-03611-5","url":null,"abstract":"<p><strong>Purpose: </strong>Little is known about differences in the risk of infertility, family-building patterns, and childcare habits of proceduralists compared to non-proceduralists. This cross-sectional study examines variations in family-building patterns and childcare habits between proceduralists and non-proceduralists.</p><p><strong>Methods: </strong>From April to May 2021, a convenience sample of medical students and physicians was recruited through social media and organizational listservs to complete a questionnaire as part of the Study of Physicians and Children: Expectations and Experiences (SPACE). Respondents reported their demographics and family-building path, if applicable. All physicians who indicated their specialty were included. Medical students were excluded. The primary outcomes of interest were the rates of infertility and utilization of assisted reproductive technology (ART). Secondary outcomes included family-building patterns and childcare habits. Procedural vs. non-procedural specialties were categorized based on previously published literature.</p><p><strong>Results: </strong>Including trainee physicians, there were 2519 physician respondents (80.8% of all respondents). The majority identified as women (n = 2246, 89.2%) and as heterosexual (n = 2204, 87.5%). There were 1103 (43.9%) proceduralists and 1416 (56.1%) non-proceduralists. The prevalence of infertility was similar across specialty type (26.8% proceduralists vs. 26.5% non-proceduralists, p = 0.66). The use of ART was higher among proceduralists (27.2% vs. 22.6%, p < 0.01). Proceduralists were more likely to have biological children during residency (38.6% vs. 27.3%, p < 0.001) and to be childless despite desiring biological children (38.2% vs. 35.2%, p < 0.001). For childcare, proceduralists were more likely to rely on nannies (50.2% vs. 41.6%, p < 0.002), while non-proceduralists were more likely to use daycare (60.8% vs. 49.4%, p < 0.001).</p><p><strong>Conclusion: </strong>This study demonstrates key differences in family-building patterns and the use of ART between procedural and non-procedural physicians. Such discrepancies suggest a need to better support physicians, especially those in procedural specialties, who want to have children by implementing more family-friendly policies.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145053619","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
Non-standardized protein background in IVF media linked to serum-derived albumin supplementation. 体外受精培养基中的非标准化蛋白背景与血清来源的白蛋白补充有关。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-13 DOI: 10.1007/s10815-025-03616-0
Markéta Nezvedová, Volodymyr Porokh, Tami Bočková, Václav Pustka, Drahomíra Kyjovská, Barbora Maierová, Soňa Kloudová, Pavel Otevřel, Zuzana Holubcová
{"title":"Non-standardized protein background in IVF media linked to serum-derived albumin supplementation.","authors":"Markéta Nezvedová, Volodymyr Porokh, Tami Bočková, Václav Pustka, Drahomíra Kyjovská, Barbora Maierová, Soňa Kloudová, Pavel Otevřel, Zuzana Holubcová","doi":"10.1007/s10815-025-03616-0","DOIUrl":"https://doi.org/10.1007/s10815-025-03616-0","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the protein compositional variability of IVF media and identify sources of undeclared contaminants that interfere with the detection of embryo-derived signals.</p><p><strong>Methods: </strong>Untargeted and targeted mass spectrometry techniques were used to analyze protein composition in 85 samples of used and unused monophasic IVF media across 13 production lots from two manufacturers. Samples included spent culture media (SCM) from individual embryo cultures, matched controls, and unused (blank) media. Protein-free base media was supplemented with either serum-derived or recombinant human serum albumin (HSA) to evaluate their impact on protein contamination.</p><p><strong>Results: </strong>Proteomic analysis revealed that not only SCM but also unconditioned media contained over 700 undeclared human proteins, many of which are known to be implicated in key cellular pathways. No significant differences were observed between the protein profiles of embryos that reached the blastocyst stage (n = 29) and those arrested at cleavage (n = 24). Instead, protein level variation strongly correlated with media production lot, as shown by targeted analysis of 14 candidate proteins and principal component clustering of 53 SCM samples. Analysis of blank media confirmed substantial lot-to-lot heterogeneity. Supplementation experiments demonstrated that serum-derived HSA introduces undeclared, batch-variable proteins into IVF media, contributing to a non-standardized culture environment and confounding the detection of embryo-derived signals.</p><p><strong>Conclusion: </strong>Serum-derived HSA was identified as the primary source of protein contamination in IVF media. This overlooked protein background contributes to variability in clinical culture conditions, undermines the reproducibility of secretome analyses, and complicates the discovery of reliable biomarkers in SCM.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145053677","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 efficacy of RNA-seq-based endometrial receptivity test (rsERT) in guiding personalized embryo transfer in women with polycystic ovarian syndrome without recurrent implantation failure: a randomized controlled trial. 基于rna -seq的子宫内膜容受性试验(rsERT)指导无复发性着床失败的多囊卵巢综合征女性个体化胚胎移植的疗效:一项随机对照试验。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-13 DOI: 10.1007/s10815-025-03627-x
Jingjing Chen, Jianjuan Zhao, Qin Hu, Jing Fu, Jing Zhao, Qiong Zhang, Bin Xu, Hui Li, Yanping Li
{"title":"The efficacy of RNA-seq-based endometrial receptivity test (rsERT) in guiding personalized embryo transfer in women with polycystic ovarian syndrome without recurrent implantation failure: a randomized controlled trial.","authors":"Jingjing Chen, Jianjuan Zhao, Qin Hu, Jing Fu, Jing Zhao, Qiong Zhang, Bin Xu, Hui Li, Yanping Li","doi":"10.1007/s10815-025-03627-x","DOIUrl":"https://doi.org/10.1007/s10815-025-03627-x","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the effectiveness of personalized embryo transfer (pET) in enhancing intrauterine pregnancy rates in women with polycystic ovary syndrome (PCOS) without recurrent implantation failure (RIF).</p><p><strong>Methods: </strong>This single-center, open-label, randomized controlled trial was conducted at a university-affiliated assisted reproductive medical center between October 2022 and May 2024. Eligible participants were randomly assigned to either the pET arm guided by the RNA-seq-based endometrial receptivity test (rsERT) or the regular frozen embryo transfer (FET) arm. Clinical outcomes from the first embryo transfer cycles following the tests were tracked and compared between the groups.</p><p><strong>Results: </strong>A total of 121 patients were included and randomly assigned to either the FET arm (n = 60) or the pET arm (n = 61). Intention-to-treat analyses revealed no significant differences between the FET group and the pET group in terms of intrauterine pregnancy rate (61.2% vs. 60.0%, difference, - 1.2% [95% CI, - 20.2 to 17.9%], p = 0.901), embryo implantation rate (54.7% vs. 50.7%, difference, - 4.0% [95% CI, - 20.5 to 12.8%], p = 0.643), early miscarriage rate (3.3% vs. 6.7%, difference, 3.3% [95% CI, - 11.1 to 18.7%], p = 1.000), and ongoing pregnancy rate (59.2% vs. 56.0%, difference, - 3.2% [95% CI, - 22.3 to 16.2%], p = 0.749). Subgroup analyses of intrauterine pregnancy rates revealed no statistically significant differences between the groups, regardless of the analysis method used.</p><p><strong>Conclusions: </strong>Current evidence does not support the routine use of rsERT for personalized embryo transfer in PCOS patients without RIF. Further large-scale, well-designed clinical trials are needed.</p><p><strong>Trial registration: </strong>The trial was registered on the Chinese Clinical Trial Registry (registration no. ChiCTR2200064131, prospectively registered). Trial registration date: 2022-09-27.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058424","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
Does assisted reproductive technology influence the complexity and associated malformations in esophageal atresia? 辅助生殖技术是否影响食道闭锁的复杂性及相关畸形?
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-11 DOI: 10.1007/s10815-025-03624-0
Federica Pederiva, Nigel Hall, Tuktu Soyer, Francesco Morini
{"title":"Does assisted reproductive technology influence the complexity and associated malformations in esophageal atresia?","authors":"Federica Pederiva, Nigel Hall, Tuktu Soyer, Francesco Morini","doi":"10.1007/s10815-025-03624-0","DOIUrl":"https://doi.org/10.1007/s10815-025-03624-0","url":null,"abstract":"<p><strong>Purpose: </strong>Assisted reproductive technology (ART) has been associated with increased risks of congenital anomalies and preterm birth. However, its role in influencing the complexity of specific malformations, such as esophageal atresia (EA), remains unclear. This study aimed to assess whether ART impacts the phenotypic complexity of EA, including associated anomalies and VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies) association.</p><p><strong>Methods: </strong>Data from 374 EA patients enrolled in the European Pediatric Surgeons' Association (EUPSA) Esophageal Atresia Registry were analyzed. Patients were grouped based on mode of conception (28 ART and 346 natural conception) and compared for demographics, gestational age, birth weight, associated malformations, VACTERL association, and genetic disorders.</p><p><strong>Results: </strong>Gestational age and birth weight were comparable between groups (36.5 ± 3.3 vs. 36.4 ± 3.3 weeks, p = 0.42; 2412.3 ± 761.6 g vs. 2601.3 ± 744.3 g, p = 0.24). Maternal age was significantly higher in the ART group. The prevalence of cardiac, gastrointestinal, renal, musculoskeletal, and vertebral anomalies did not differ significantly. All cardiac anomalies in ART patients were minor. VACTERL association rates (25.0% vs. 18.5%, p = 0.398) and genetic disorder prevalence (7.1% vs. 4.9%, p = 0.605) were comparable.</p><p><strong>Conclusions: </strong>ART does not appear to increase the complexity of EA in terms of associated malformations, VACTERL spectrum disorders, or genetic abnormalities. Further studies with larger cohorts and detailed ART subtype data are warranted to confirm these findings.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033458","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
Kisspeptin as a marker for male infertility: a comparative study of serum and seminal plasma kisspeptin between fertile and infertile men. Kisspeptin作为男性不育的标志物:可育男性和不育男性血清和精浆Kisspeptin的比较研究。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-11 DOI: 10.1007/s10815-025-03644-w
Nichamon Parkpinyo, Sirichet Anekpornwattana, Chantacha Sitticharoon, Somsin Petyim
{"title":"Kisspeptin as a marker for male infertility: a comparative study of serum and seminal plasma kisspeptin between fertile and infertile men.","authors":"Nichamon Parkpinyo, Sirichet Anekpornwattana, Chantacha Sitticharoon, Somsin Petyim","doi":"10.1007/s10815-025-03644-w","DOIUrl":"https://doi.org/10.1007/s10815-025-03644-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to identify kisspeptin as a new marker for infertility in men with abnormal semen parameters by comparing serum and seminal plasma kisspeptin levels between fertile men and infertile men with normal and abnormal semen parameters.</p><p><strong>Methods: </strong>Fertile men (group A), infertile men with normal semen parameters (group B), and infertile men with abnormal semen parameters (group C) were recruited. Fasting venous blood was tested for kisspeptin, follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, insulin-like growth factor 1 (IGF-1), insulin, and glucose. Semen was collected by self-masturbation, and semen analysis was performed, then was tested for kisspeptin and testosterone.</p><p><strong>Results: </strong>Fifty-two men were included in the study (17 fertile men in group A, 18 infertile men in group B, and 17 infertile men in group C). Serum kisspeptin levels were significantly lower in fertile men (group A) as compared to infertile men (groups B and C) regardless to semen parameters (85.18 ± 20.47 ng/dL, 109.37 ± 28.64 ng/dL, and 108.70 ± 32.30 ng/dL respectively; p = 0.019). While seminal plasma kisspeptin levels were not significantly different (245.95 ± 67.12 ng/dL, 283.73 ± 119.82 ng/dL, and 312.99 ± 245.17 ng/dL, respectively; p = 0.48). There was no significant difference among groups for serum FSH, LH, testosterone, IGF-1, fasting insulin, fasting glucose, homeostasis model assessment of insulin resistance (HOMA-IR), and seminal plasma testosterone.</p><p><strong>Conclusion: </strong>Serum kisspeptin might be used as a more sensitive marker for male infertility rather than FSH and LH. However, the clinical application of kisspeptin in the treatment of male infertility requires further study.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040247","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
Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes. 卵巢储备减少和卵巢功能不全的遗传变异:对辅助生殖结果的影响。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-11 DOI: 10.1007/s10815-025-03663-7
Qianhua Xu, Haitian Ding, Yingchun Liu, Dan Han, Xun Xia, Yuqian Li, Xuan Sha, Guotong Li, Xiaoqing Ni, Kuokuo Li, Rong Hua, Xiaojin He, Huan Wu, Yunxia Cao, Yuping Xu
{"title":"Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes.","authors":"Qianhua Xu, Haitian Ding, Yingchun Liu, Dan Han, Xun Xia, Yuqian Li, Xuan Sha, Guotong Li, Xiaoqing Ni, Kuokuo Li, Rong Hua, Xiaojin He, Huan Wu, Yunxia Cao, Yuping Xu","doi":"10.1007/s10815-025-03663-7","DOIUrl":"https://doi.org/10.1007/s10815-025-03663-7","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the genetic factors underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) in 55 infertile women of reproductive age in China and to evaluate the outcomes of assisted reproductive technology (ART) treatment in cases of genetically associated DOR/POI.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed to identify pathogenic gene variants associated with DOR and POI. Clinical data were systematically collected and analyzed.</p><p><strong>Results: </strong>Biallelic or heterozygous variants in 15 genes associated with the pathogenesis of these conditions were identified in 20/55 patients with DOR or POI. These genes are involved in the following four key biological processes: meiosis (SYCE1, C14orf39, MSH4, MSH5, MCM9, NBN, REC114, WRN, BNC1, and HFM1), transcriptional regulation (TBPL2, EIF2B5, and NOBOX), mitochondrial function (TWNK), and granulosa cell formation and development (UMODL1). Novel variants accounted for 76% of all identified variants. The parental origin of these variants was confirmed through Sanger sequencing, and AlphaFold analysis demonstrated structural abnormalities in the affected proteins caused by the identified missense variants. Retrospective analyses of ART outcomes revealed that younger patients had more favorable prognostic outcomes than older patients.</p><p><strong>Conclusion: </strong>POI/DOR-associated genetic defects were classified into four functional pathways, with meiotic variants emerging as key drivers of poor ART outcomes, whereas granulosa cell-related variants were associated with favorable prognoses. Younger age was identified as a potential positive factor for clinical success, highlighting the need for validation in larger cohorts to refine variant- and age-specific treatment strategies. These findings provide valuable insights for tailoring treatment based on genetic variants.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145040314","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 value of optical genomic mapping in a patient with azoospermia and a complex chromosomal rearrangement. 光学基因组图谱在无精子症和复杂染色体重排患者中的价值。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-10 DOI: 10.1007/s10815-025-03656-6
Arthur Clément, Samira Ahmed-Eli, Dana Jaber, Laila El Khattabi, Patrice Clément, François Vialard
{"title":"The value of optical genomic mapping in a patient with azoospermia and a complex chromosomal rearrangement.","authors":"Arthur Clément, Samira Ahmed-Eli, Dana Jaber, Laila El Khattabi, Patrice Clément, François Vialard","doi":"10.1007/s10815-025-03656-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03656-6","url":null,"abstract":"<p><strong>Introduction: </strong>Complex chromosomal rearrangements (CCRs) are frequently associated with infertility and have been described in the literature. Chromoanagenesis corresponds to a group of CCRs with a high number of chromosome breakpoints. These CCRs involving small structural variations can only be identified by using high-resolution genomic techniques.</p><p><strong>Case report: </strong>Here, we report on a male with azoospermia and a balanced CCR characterized using optical genome mapping. Although the CCR was initially thought to involve four chromosomes, the use of optical genome mapping (OGM) identified 11 breakpoints and led to a final diagnosis of chromothripsis.</p><p><strong>Discussion: </strong>According to the literature, CCRs supposedly lead to recurrent pregnancy loss in females and infertility in male and, more generally, to meiosis arrest. Optical genome mapping or whole-genome sequencing might be of value for identifying CCRs in patients with azoospermia (avoiding unnecessary testicular sperm extraction) and characterizing the risk of transmission of the unbalanced chromosome to the offspring.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033020","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 prognostic nomogram for assessing the risk of recurrence after laparoscopic myomectomy. 评估腹腔镜子宫肌瘤切除术后复发风险的预后图。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-10 DOI: 10.1007/s10815-025-03648-6
Xing Liu, Qi-Hua Jiang, Jun-Tao Tan, Lin-Kang Liu
{"title":"A prognostic nomogram for assessing the risk of recurrence after laparoscopic myomectomy.","authors":"Xing Liu, Qi-Hua Jiang, Jun-Tao Tan, Lin-Kang Liu","doi":"10.1007/s10815-025-03648-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03648-6","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify key predictors of uterine fibroid (UF) recurrence following laparoscopic myomectomy (LM) in reproductive-age women and to construct a predictive nomogram to support individualized clinical decision-making.</p><p><strong>Methods: </strong>This retrospective cohort study included 459 women who underwent LM. Recurrence of UFs and risk of recurrence were analyzed. Time to recurrence, defined as the interval between surgery and imaging-confirmed regrowth, was the primary time-to-event outcome. Multivariate Cox regression and Kaplan-Meier analyses identified significant predictors of recurrence, which were used to develop a predictive nomogram.</p><p><strong>Results: </strong>Out of 459 patients, 69 experienced recurrence during a median follow-up of 15.8 months. Significant recurrence predictors included age (30-40 years, HR = 1.74, p = 0.041; 18-30 years, HR = 1.88, p = 0.047); fibroid count (≥ 3 fibroids, HR = 2.73, p = 0.001); and fibroid size (≥ 5 cm, HR = 2.84, p < 0.001). The predictive nomogram, integrating age, number, and size of UFs, showed a C-index of 0.752 and area under the curve (AUC) values for 1-, 2-, and 3-year recurrence of 0.710, 0.783, and 0.797, respectively, reflecting robust predictive performance. Calibration curves confirmed the nomogram's accuracy in aligning predicted with observed outcomes.</p><p><strong>Conclusion: </strong>The study developed a validated nomogram for predicting recurrence in UFs patients after LM, incorporating age, number, and size of UFs to enhance clinical decision-making.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033474","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 impact of melatonin-enriched media on epigenetic and perinatal changes induced by embryo culture in a mouse model. 富褪黑素培养基对小鼠胚胎培养诱导的表观遗传和围产期变化的影响。
IF 2.7 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-10 DOI: 10.1007/s10815-025-03643-x
Molly S Kornfield, Kiersey R Nielsen, Gracelyn M Fine, Lisa A Vrooman
{"title":"The impact of melatonin-enriched media on epigenetic and perinatal changes induced by embryo culture in a mouse model.","authors":"Molly S Kornfield, Kiersey R Nielsen, Gracelyn M Fine, Lisa A Vrooman","doi":"10.1007/s10815-025-03643-x","DOIUrl":"https://doi.org/10.1007/s10815-025-03643-x","url":null,"abstract":"<p><strong>Purpose: </strong>To determine if melatonin-enriched culture media could offset loss of imprinting in mouse concepti.</p><p><strong>Methods: </strong>Zygotes were cultured to blastocyst stage under optimized conditions in melatonin-supplemented media at either 10<sup>-9</sup> M (MT 10<sup>-9</sup>) or 10<sup>-6</sup> M (MT 10<sup>-6</sup>), or without supplementation (Culture + embryo transfer, or ET, positive control). Blastocysts were also developed in vivo (ET negative control). All blastocysts were transferred to surrogate recipients. Concepti were assessed just prior to term. DNA methylation analysis for placenta, fetal brain, heart, and liver was performed with amplicon next generation sequencing for four imprinting control regions (ICRs): H19/Igf2, Kcnq1ot1, Peg3 and Snrpn.</p><p><strong>Results: </strong>Placental methylation was significantly different in the Culture + ET, MT 10<sup>-9</sup>, and MT 10<sup>-6</sup> groups from ET at both Peg3 and H19/Igf2. At Snrpn and Kcnq1ot1 ICRs, the Culture + ET group was significantly differently methylated than ET, but MT groups were not significantly different from either control. Additionally, fetal hearts from both MT 10<sup>-9</sup> and Culture + ET groups were significantly hypomethylated compared to ET at the H19/Igf2 ICR, while MT 10<sup>-6</sup> was not significantly different. Methylation differences in experimental culture groups were also observed in fetal liver, but no differences were detected in fetal brain.</p><p><strong>Conclusions: </strong>This is the first study to identify ICR DNA hypomethylation in fetal heart tissue with embryo culture, which is of interest due to increased cardiac anomalies in human IVF offspring. Although not completely restorative, both melatonin concentrations partially offset some methylation changes at ICRs in fetal placenta and heart.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145033430","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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