Journal of Assisted Reproduction and Genetics最新文献

{"title":"Shortened warming protocols preserve spindle integrity and mitochondrial mass less effectively than standard warming in autologous oocytes cryopreserved via standard vitrification.","authors":"Alessandro Bartolacci, Valentina Pavone, Teresa Vergara, Sofia de Girolamo, Elisa Giacomini, Stefania Esposito, Lucia De Santis, Giulia D'Alessandro, Manuela Ludovisi, Carla Tatone, Luca Pagliardini, Giovanna Di Emidio","doi":"10.1007/s10815-026-03884-4","DOIUrl":"https://doi.org/10.1007/s10815-026-03884-4","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the clinical applicability of shortened (SW) and ultra-shortened (USW) warming protocols for oocytes cryopreserved using standard vitrification (STD-V).</p><p><strong>Methods: </strong>This prospective sibling study included 436 mature human oocytes from 47 patients, all vitrified using a single standard vitrification (STD-V) protocol. Experiment 1 compared the standard warming (STD-W) with the SW protocols (2 min), and Experiment 2 compared the SW protocol with USW protocol (1 min). Oocyte survival rates were assessed 1.5 h post-warming, and oocytes were immediately fixed. The analysis of meiotic spindle organization and chromosome alignment was assessed by detailed examination of individual optical sections and corresponding full Z-stack projections encompassing the entire spindle. Mitochondrial mass was quantified from Z-stack-based projections integrating fluorescence across all optical sections. We also performed a pooled analysis to directly compare STD-W, SW, and USW groups.</p><p><strong>Results: </strong>Survival rates were comparable across protocols. Both SW and USW protocols were associated with significantly lower odds of normal chromosomal distribution, spindle organization, and normal MII apparatus compared with the STD-W protocol, with no significant differences between SW and USW. Spindle length and pole width were increased in SW and USW versus STD-W. Mitochondrial mass was significantly reduced in SW compared with STD-W.</p><p><strong>Conclusions: </strong>Although survival rates were comparable, our data indicate that SW and USW protocols are associated with a higher incidence of spindle and chromosomal abnormalities than the traditional approach. This may affect oocyte developmental competence, highlighting the need for further investigation regarding the clinical use of SW/USW protocols for STD-V-cryopreserved oocytes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147814866","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 recurrent North African ZP1 variant and a literature review of genotype-phenotype correlations in ZP-related infertility.","authors":"Besma Hibat Allah Nourine, Leyla Ounis, Cécile Lang, Laura Feyereisen, Abdelali Zoghmar, Houssem Eddine Milat, Leila Rouabah, Claudine Mayer, Stéphane Viville","doi":"10.1007/s10815-026-03886-2","DOIUrl":"https://doi.org/10.1007/s10815-026-03886-2","url":null,"abstract":"<p><strong>Purpose: </strong>Genetic diagnosis is increasingly crucial in medically assisted reproduction (MAR), enabling identification of infertility causes and guiding personalized treatments. This study investigates the genetic basis of empty follicle syndrome (EFS) in two independent consanguineous Algerian families with primary infertility.</p><p><strong>Methods: </strong>Exome sequencing and in silico analysis of a comprehensive infertility gene panel were performed on two index cases. Variants were prioritized based on gene-disease relationships. The identified ZP1 variant was further analyzed by 3D protein modeling. A literature review was conducted in order to compare genotype-phenotype correlations for ZP1, ZP2, ZP3, and ZP4 variants.</p><p><strong>Results: </strong>Both patients and two affected siblings harbored a homozygous ZP1 c.1097G > A p.(Arg366Gln) variant inherited from both heterozygous parents. This previously described variant appears to be recurrent in North African populations. Structural modeling supported its pathogenic effect, as it likely disrupts zona pellucida structure, essential for oocyte protection and fertilization. Literature review showed that phenotypes varied among reported ZP1 mutations, ranging from complete EFS to cases with successful pregnancies. Comparative analysis of ZP2, ZP3, and ZP4 variants highlighted their critical but distinct roles in oocyte biology.</p><p><strong>Conclusions: </strong>The recurrent ZP1 c.1097G > A p.(Arg366Gln) variant contributes to EFS in consanguineous North African families. Genetic diagnosis using targeted gene panels is valuable for personalized infertility care and counseling. Further research into genotype-phenotype relationships and therapeutic approaches is needed to improve management of ZP-related infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772602","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":"Use of low versus high oxygen tension during pre-maturation only in capacitation in vitro maturation (CAPA-IVM): impact on oocyte maturation and metabolism.","authors":"Kha T Huynh, Dung T P Nguyen, Anh H Le, Nhu T M Khong, Toan D Pham, Diem T N Nguyen, Minh H N Nguyen, Ho L Le, Tien K Le, Bao G Huynh, Nhung H Truong, Ellen Anckaert, Johan E J Smitz, Robert B Gilchrist, Tuong M Ho, Nazli Akin, Lan N Vuong","doi":"10.1007/s10815-026-03885-3","DOIUrl":"https://doi.org/10.1007/s10815-026-03885-3","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the impact of low versus atmospheric oxygen tension during only the pre-maturation phase of biphasic capacitation in vitro maturation.</p><p><strong>Methods: </strong>The study involved sibling oocytes (532 cumulus-oocyte complexes [COCs] from 20 participants [mean age 29.5 ± 2.5 years]) with polycystic ovary syndrome undergoing CAPA-IVM without gonadotrophins. After oocyte pick-up (OPU), COCs were randomized to undergo pre-maturation under low or atmospheric oxygen, then IVM culture at 20% oxygen. The primary outcome was the oocyte maturation rate. Secondary outcomes included rates of fertilization, blastulation, and good-quality blastocysts. Cumulus cell gene expression was also determined, and glucose and lactate concentrations in spent culture media were analyzed.</p><p><strong>Results: </strong>Oocyte maturation rates per COC (59.8% vs. 56.1%; p = 0.47) and per patient (61% vs. 55%; p = 0.34) were comparable between the atmospheric vs. low oxygen groups. Fertilization rates were significantly higher in the atmospheric versus low oxygen group; all other embryology outcomes were similar between groups. Significantly different cumulus cell gene expression was seen for LDHA (glucose metabolism; lower in the low oxygen group), CPT1A (lipid shuttle; higher in the low oxygen group), and NDRG1 (hypoxia response; lower in the low oxygen group). Glucose consumption and lactate production were comparable between groups during pre-maturation, but lower in the low oxygen group during IVM.</p><p><strong>Conclusions: </strong>Overall, although low oxygen tension during CAPA-IVM pre-maturation reduces the number of fertilized oocytes, it does not compromise fertilized oocyte quality or embryological outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772580","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":"Transfer RNA-derived small RNAs in female reproductive disorders: emerging roles and clinical implications.","authors":"Ruiyin Jiang, Yanqing Deng, Liping Zou, Jia Chen, Houyang Chen, Yan Zhao, Jialyu Huang, Jing Zhu","doi":"10.1007/s10815-026-03882-6","DOIUrl":"https://doi.org/10.1007/s10815-026-03882-6","url":null,"abstract":"<p><p>Female reproductive disorders present significant challenges worldwide. Transfer RNA-derived small RNAs (tsRNAs), a structurally diverse class of non-coding RNAs mainly comprising tRNA halves (tiRNAs) and tRNA-derived fragments (tRFs), have emerged as key regulators in human health and disease. This review outlines the biogenesis and functions of tsRNAs and summarizes their mechanistic involvement and clinical implications across a range of reproductive pathologies. In pregnancy-related complications, such as embryo implantation failure and recurrent spontaneous abortion, aberrant tsRNA profiles perturb trophoblast behavior, endometrial decidualization, and maternal-fetal crosstalk, thereby compromising placental development and pregnancy outcome. In benign gynecological conditions including premature ovarian failure and endometriosis, dysregulated tsRNAs disrupt granulosa cell survival, promote stromal proliferation, and reshape inflammatory signaling, ultimately altering follicular development and uterine homeostasis. As our understanding of tsRNA-mediated pathways deepens, these molecules offer promising potential as diagnostic biomarkers and therapeutic targets for precision medicine in female reproductive disorders.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772568","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":"Authors response to Commentary on: \"The potential of the sperm plasma membrane as a marker of fertilization success in non-normozoospermic patients undergoing assisted reproduction techniques\".","authors":"Gabriela Carrasquel-Martínez, Paulina Torres-Rodríguez, Arturo Matamoros-Volante, Diana Lisbeth Flores, María Guadalupe Figueroa-Mendez, Israel Maldonado Rosas, Andrés Aragón-Martínez, Claudia Lydia Trevino Santa Cruz","doi":"10.1007/s10815-026-03873-7","DOIUrl":"https://doi.org/10.1007/s10815-026-03873-7","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772572","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":"From determinism to probability: integrating artificial intelligence into male infertility genetics.","authors":"Deepak Modi, Stacy Colaco, Priyanka Narad, Abhishek Sengupta","doi":"10.1007/s10815-026-03879-1","DOIUrl":"https://doi.org/10.1007/s10815-026-03879-1","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772613","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":"Intrauterine platelet-rich plasma and subsequent endometrial pathology evaluation in a patient undergoing a frozen embryo transfer cycle: a case report.","authors":"Shu Qin Wei, Michael H Dahan, Lili Fu, Hillian Yan, Seang Lin Tan","doi":"10.1007/s10815-026-03870-w","DOIUrl":"https://doi.org/10.1007/s10815-026-03870-w","url":null,"abstract":"<p><strong>Background: </strong>Platelet-rich plasma (PRP) is increasingly used for refractory thin endometrium and recurrent implantation failure, yet its histological effects remain poorly characterized. We report a case of longstanding infertility in which intrauterine PRP was administered during a frozen embryo transfer cycle that was subsequently cancelled, permitting pathological evaluation.</p><p><strong>Methods: </strong>Clinical history, ultrasound findings, treatment cycles, and endometrial responses were reviewed. A pre‑PRP endometrial specimen was obtained during endometrial polyp removal, and a post‑PRP specimen was collected following an endometrial scratch. Biopsies before and after PRP were evaluated for histopathological features, including neovascularization, stromal remodeling, and immune cell infiltration. Ultrasound parameters, particularly endometrial thickness and a triple-line pattern, were compared with those from a prior PRP cycle.</p><p><strong>Results: </strong>After PRP treatment, endometrial thickness went from 8.60 to 9.15 mm without a triple-line pattern. Histology showed a weakly proliferative endometrium with no evidence of enhanced vascularity, inflammatory infiltration, or structural remodeling. Findings were unchanged compared with the endometrium without PRP exposure. Overall, no discernible tissue-level changes were identified following PRP.</p><p><strong>Conclusions: </strong>In this case, intrauterine PRP was not associated with detectable histological alterations. These findings suggest a potential disconnect between ultrasound‑measured endometrial thickness and underlying tissue response. Further mechanistic studies are warranted.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772610","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":"Impact of residential air pollution on in vitro fertilization (IVF) outcomes in New Jersey.","authors":"Blake Vessa, Francesca Barrett, Christine Whitehead, Nicolás Garrido, Kassie Bollig, Marie Werner, Paul Bergh, Emre Seli","doi":"10.1007/s10815-026-03865-7","DOIUrl":"https://doi.org/10.1007/s10815-026-03865-7","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study is to identify the impact of air quality (AQ) measured by air quality index (AQI) on IVF outcomes.</p><p><strong>Methods: </strong>Retrospective cohort study including 5614 IVF cycles with preimplantation genetic testing for aneuploidy (PGT-A) and 5,618 single euploid frozen embryo transfer (FET) cycles at a single academic center in New Jersey from January 2020 to December 2023. Fifteen counties were categorized into tertiles and quintiles based on the number of days with AQI > 50. IVF outcomes (fertilization, blastulation, euploidy) and FET outcomes (sustained implantation rate (SIR), pregnancy loss, ectopic pregnancy) were compared across AQI groups. A subgroup analysis was conducted for May-July 2023 during AQ deterioration from Canadian wildfires, comparing outcomes by daily EPA AQI levels.</p><p><strong>Results: </strong>IVF outcomes (fertilization, blastulation, arrest, euploidy) did not differ by AQI group, even after adjusting for confounders (age, BMI, AMH, day 3 FSH). In FET cycles, no difference in SIR was seen between the best and worst AQ tertiles (OR, 0.943; CI, 0.822-1.081; p = 0.396). A significant decrease in SIR was observed between the best and middle tertile (OR, 0.838; CI, 0.728-0.966; p = 0.015), but not in other comparisons. No differences were seen in pregnancy loss or ectopic rates. During wildfire-related AQ deterioration, no differences were found in embryology or clinical outcomes by daily AQI.</p><p><strong>Conclusion: </strong>IVF and euploid FET outcomes were not affected by AQI levels within the observed range, including during transient declines in air quality. These findings suggest that ambient AQ deviations in the range measured in this study are unlikely to compromise IVF success, though further studies are needed to assess dose-response and individual susceptibility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772582","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":"Likelihood of obtaining a usable embryo for transfer after IVF with PGT-A and PGT-M for variants in two genes.","authors":"Melody A Rasouli, Lisette Collins, Mabel Lee, Rachel Martel, Mehrnaz Siavoshi, Lorna Kwan, Jenna Miller, Chelsea Woody, Robert Roman, Lindsay Kroener","doi":"10.1007/s10815-026-03868-4","DOIUrl":"https://doi.org/10.1007/s10815-026-03868-4","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the likelihood of obtaining at least one transferable embryo per cycle in patients undergoing IVF with PGT-A + PGT-M for variants in one versus two genes.</p><p><strong>Methods: </strong>IVF cycles in patients 18-45 years undergoing PGT-A + PGT-M for variants in one or two genes at a single genetics laboratory were analyzed from 11/2019 to 3/2023. Cycles were stratified by SART age category and disease inheritance pattern. Analyses were performed using median and chi-square tests.</p><p><strong>Results: </strong>A total of 4634 IVF cycles were included: 146 cycles (3.15%) using PGT-A + PGT-M for two genes and 4488 cycles (96.85%) for one gene. After adjusting for the number of embryos biopsied, the likelihood of having at least one usable embryo was significantly lower in patients testing for variants in two genes compared to one in patients aged < 35 (75.0% v 82.5%, p = 0.004) and 35-37 (55.0% v 74.4%, p = 0.025) with no difference in other age groups 38-40 (66.7% v 74.4%, p = 0.586) and 41-42 (42.9% v 51.7%, p = 0.113).</p><p><strong>Conclusions: </strong>There were significantly lower odds of obtaining a usable embryo when testing for variants in genes in patients aged < 35 and 35-37. No significant difference was seen among patients aged 38-40 or 41-42. These findings provide quantifiable data to counsel patients considering PGT-M testing for variants in two genes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772599","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":"Information and counselling on post-mortem reproduction: a Delphi study with ART specialists.","authors":"Maria Rodrigues, Margarida Silvestre, Mariana V Martins","doi":"10.1007/s10815-026-03880-8","DOIUrl":"https://doi.org/10.1007/s10815-026-03880-8","url":null,"abstract":"<p><strong>Purpose: </strong>To explore what issues should be addressed in terms of information, psychosocial counselling, and future guidelines for individuals considering post-mortem ART/IUI.</p><p><strong>Methods: </strong>A three-round Delphi study was conducted (December 2024 to August 2025) among international ART specialists (embryologists, physicians, nurses, and clinical psychologists). The study was disseminated via the mailing lists of the European Society of Human Reproduction and Embryology (ESHRE) and the Portuguese Society of Reproductive Medicine (SPMR), with the participation of 39 members. In round one, an open-ended question elicited expert perspectives on key issues in information provision, psychosocial counselling, and future guidance for post-mortem ART/IUI. Responses were subjected to qualitative thematic analysis. In round two, participants rated their agreement with each item using a five-point Likert scale. Consensus was reached if ≥ 70% of participants agreed/disagreed with a statement. In round three, prioritisation of items was performed.</p><p><strong>Results: </strong>The most important points identified were the need to safeguard legal and procedural aspects, the need to ensure prior written consent from the deceased partner, and the need to integrate psychological counselling throughout the post-mortem ART/IUI process. Areas of divergence were also identified, in relation to bereavement periods, family involvement, and long-term psychosocial support. Emerging themes underrepresented in the literature were also identified, including the psychological impact on healthcare professionals and broader social and cultural considerations.</p><p><strong>Conclusions: </strong>These findings underscore the need for multidisciplinary, consensus-informed guidance to support clinical practice in post-mortem ART/IUI. In the same way, this study highlights critical gaps in legal clarity, psychological support, and family-centred and child-centred considerations.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147772553","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}