{"title":"A causal atlas for sperm DNA fragmentation: separating \"programmed\" breaks from \"acquired\" injury across the male tract.","authors":"Sulagna Dutta, Pallav Sengupta","doi":"10.1007/s10815-026-04046-2","DOIUrl":"https://doi.org/10.1007/s10815-026-04046-2","url":null,"abstract":"<p><p>Sperm DNA fragmentation (SDF) is still treated as a single metric despite converging evidence that it is a composite of mechanistically distinct break classes. We argue for a 'causal atlas' that maps when and where damage is introduced, from spermiogenesis to epididymal transit to ejaculation, and partitions SDF into programmed vulnerability created by faulty chromatin remodeling/topoisomerase-associated events and abortive apoptosis, versus acquired injury from oxidative/enzymatic attack during transit. Although current assays cannot definitively assign SDF to a particular mechanism or anatomical stage, integrating complementary measures may support mechanistically informed patient stratification and guide the development of more targeted interventions.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149149141","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}
Giles Anthony Palmer, Andrés Gambini, Andrew Pask, Pierre Comizzoli
{"title":"One Embryology: impactful connections between human- and wildlife-assisted reproduction.","authors":"Giles Anthony Palmer, Andrés Gambini, Andrew Pask, Pierre Comizzoli","doi":"10.1007/s10815-026-04044-4","DOIUrl":"https://doi.org/10.1007/s10815-026-04044-4","url":null,"abstract":"<p><strong>Purpose: </strong>Assisted reproductive technologies (ART) in humans have evolved from early experimental work into a globally established clinical field, with animal research providing the foundation for their development and continuous refinement. This review examines the reciprocal relationship between human and animal ART and considers how a broader \"One Embryology\" framework may benefit both reproductive medicine and wildlife conservation.</p><p><strong>Methods: </strong>The historical and contemporary connections between human, domestic animal, and wildlife ART are reviewed, with particular consideration of comparative reproductive physiology, cryopreservation, reproductive biobanking, conservation science, genomics, training, and emerging laboratory technologies.</p><p><strong>Results: </strong>Human IVF remains deeply rooted in animal physiology, while advances in livestock reproduction established the practical foundations of semen cryopreservation, informing human fertility treatment, wildlife conservation, and reproductive biobanking. These similarities emphasise the unifi ed nature of reproductive science, in which human and animal ART continue to inform one another. While reproductive effi ciency has driven human and domestic animal ART, wildlife conservation has adopted ART to preserve reproductive potential where biology, logistics, or ethics limit intervention. The diversity of reproductive strategies across the animal kingdom offers important opportunities for innovation and highlights the value of comparative approaches, particularly as modern embryology training places less emphasis on comparative animal physiology. Human IVF also faces growing challenges, including workforce shortages, increasing laboratory complexity, and growing automation, raising questions regarding professional identity, training, and workforce sustainability. Conservation ART provides not only a translational testing ground but also an opportunity to reinvigorate scientific engagement.</p><p><strong>Conclusions: </strong>Greater integration of conservation science, genomics, and biobanking within the clinical ART community may strengthen both human reproductive medicine and global biodiversity conservation through abroader \"One Embryology\" framework.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149147838","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}
David Bouhadana, Mélanie Chow-Shi-Yée, Simon Phillips, Armand Zini, Jacques-Isaac Kadoch
{"title":"Evaluating the time interval between oocyte retrieval and micro testicular sperm extraction: a single-center retrospective cohort study.","authors":"David Bouhadana, Mélanie Chow-Shi-Yée, Simon Phillips, Armand Zini, Jacques-Isaac Kadoch","doi":"10.1007/s10815-026-04047-1","DOIUrl":"https://doi.org/10.1007/s10815-026-04047-1","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the embryological and clinical outcomes of couples undergoing micro testicular sperm extraction (TESE) at 24 h or 48 h before oocyte retrieval and intracytoplasmic sperm injection (ICSI).</p><p><strong>Methods: </strong>We conducted a retrospective study of 129 ICSI cycles using sperm recovered by micro-TESE from a single fertility center between June 2015 and January 2025. Patients were stratified according to timing of oocyte retrieval following micro-TESE: 24 h (n = 104) vs. 48 h (n = 25). Baseline demographics, including age, hormonal profile, and degree of sperm concentration (non-obstructive azoospermia, cryptozoospermia, or severe oligoasthenoteratozoospermia), were collected. Embryological outcomes included the number of retrieved oocytes, mature oocytes (MII), fertilization rate, and blastocyst formation (2PN). Clinical outcomes assessed were biochemical pregnancy, clinical pregnancy, and live birth rates.</p><p><strong>Results: </strong>Baseline characteristics did not differ significantly between groups. Of note, given the retrospective nature of the study, we could not control for factors such as oocyte quality, protocol variations, and reasons for a delayed cycle. Embryological outcomes, including fertilization rate (67% vs. 65%; p = 0.81) and blastocyst rate (50% ± 26 vs. 49% ± 29; p = 0.90), were comparable between the 24-h and 48-h groups. However, significant differences were observed in clinical outcomes: positive β-hCG rates were higher in the 24-h group (72% vs. 35%; p = 0.002)), as were clinical pregnancy rates (65% vs. 35%; p = 0.01) and live birth rates (56% vs. 30%; p = 0.03).</p><p><strong>Conclusion: </strong>Although prior studies have shown that sperm culture up to 48 h may enhance motility, the current study demonstrates that an extended culture may be associated with less favorable clinical outcomes. Our findings demonstrate that oocyte retrieval within 24 h of micro-TESE was associated with higher clinical pregnancy and live birth rates compared to longer culture intervals. Given the retrospective design, these findings should be interpreted cautiously, and prospective randomized studies are needed to better define the optimal timing between micro-TESE and oocyte retrieval.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149136900","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}
Christine S Allen, Matthew C Hudnall, Mark Langley
{"title":"Tracking cryogenic tank failure from inception to critical warming: a site-specific analysis of sample-storage risk.","authors":"Christine S Allen, Matthew C Hudnall, Mark Langley","doi":"10.1007/s10815-026-04051-5","DOIUrl":"https://doi.org/10.1007/s10815-026-04051-5","url":null,"abstract":"<p><strong>Background: </strong>Cryogenic storage is essential for the long-term preservation of gametes, embryos, and reproductive tissues in assisted reproductive technology (ART). Liquid-nitrogen [N<sub>₂(l)</sub>] storage dewars rely on high-vacuum insulation to maintain cryogenic conditions and predictable evaporation rates. Progressive deterioration of vacuum integrity may initially present as accelerated N<sub>₂(l)</sub> loss while temperatures at the sample-storage level remain within the cryogenic range. Consequently, conventional temperature monitoring alone may provide a narrower intervention window than multimodal systems capable of identifying earlier physical indicators of tank failure.</p><p><strong>Objective: </strong>To characterize the progression of an induced vacuum failure from its earliest detectable signs to localized warming at clinically representative sample-storage locations, and to evaluate whether combined vacuum-integrity, N<sub>₂(l)</sub> weight, and sample-proximal temperature monitoring provides earlier warning than conventional temperature monitoring alone.</p><p><strong>Methods: </strong>A new, unused XC 47/11 liquid nitrogen storage dewar (MVE Biological Solutions, Ball Ground, GA, USA), designated Device 7108, was evaluated under controlled environmental conditions. Baseline evaporation testing was conducted before vacuum-failure induction. During a closed-lid control trial, the dewar required 110.84 days to decline from 44.0 L of N₂(l) to depletion, corresponding to an average evaporation rate of 0.397 L/day. Additional 48-h characterization trials demonstrated N₂(l) losses of 0.7 L with the lid closed and 2.4 L with the lid open. For the vacuum-failure simulation, the dewar was filled with 45.8 L of medical-grade N₂(l) and stabilized for 32 h before a controlled vacuum breach was induced. Empty S-Cryolock® vitrification devices (Biotech, Inc., Alpharetta, GA, USA) were arranged in clinically representative storage assemblies. Vacuum integrity was not measured directly with pressure transducers. The vacuum failure was induced by creating a full-thickness perforation through the vacuum-port plug of the otherwise new, previously unmodified dewar using a 1/16-in (1.59 mm) drill bit. Changes associated with loss of vacuum integrity were assessed non-invasively from external thermal divergence. N<sub>₂(l)</sub> mass and temperature were continuously monitored using a NIST-traceably calibrated load cell and thermocouples positioned at predefined internal, external, and sample-proximal locations, including directly on S-Cryolock® devices.</p><p><strong>Results: </strong>Vacuum degradation and accelerated N<sub>₂(l)</sub> loss were detectable before conventional thermal-alarm thresholds were reached. Early external temperature drifts were observed within minutes of breach induction, including changes of 1.1 °C and 1.6 °C, at monitored tank locations, with subsequent progression to a 7.3 °C deviation. As the failure e","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149136936","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}
Xiao Hu, Yi Zhang, Zhenxing Wan, Jing Dai, Yifan Gu, Lu Zhou, Fei Gong, Guangxiu Lu, Yue-Qiu Tan, Juan Du, Ge Lin
{"title":"Successful live birth after preimplantation genetic testing for combined nuclear RNASEH2C and mitochondrial MT-TL1 variants.","authors":"Xiao Hu, Yi Zhang, Zhenxing Wan, Jing Dai, Yifan Gu, Lu Zhou, Fei Gong, Guangxiu Lu, Yue-Qiu Tan, Juan Du, Ge Lin","doi":"10.1007/s10815-026-04041-7","DOIUrl":"https://doi.org/10.1007/s10815-026-04041-7","url":null,"abstract":"<p><strong>Introduction: </strong>Preimplantation genetic testing (PGT) reduces reproductive risks for genetically high-risk families. To date, simultaneous PGT for nuclear and mitochondrial gene variants has rarely been reported. PGT targeting mitochondrial DNA (mtDNA) variants remains challenging and requires further clinical evidence.</p><p><strong>Case report: </strong>We herein report a 3-year-old girl with severe global developmental delay. The proband harbored compound heterozygous RNASEH2C variants (maternal c.194G > A and paternal c.433C > T) and a maternally inherited m.3250 T > C variant in MT-TL1 with 72.9% heteroplasmy. PGT was performed for her parents, including RNASEH2C haplotype phasing, m.3250 T > C variant load quantification, and chromosomal copy number variation analysis. All eight embryos exhibited lower m.3250 T > C heteroplasmy (0-17.8%) than the mother (20.2%-27.9%). One aneuploid embryo with 17.8% heteroplasmy was aliquoted into 16 specimens for technical validation, and consistent variant loads (18.2% ± 1.7%) were observed across all aliquots. An euploid embryo carrying heterozygous RNASEH2C c.194G > A and low-level m.3250 T > C heteroplasmy (1.8%) was transferred, resulting in the birth of a healthy boy with uneventful birth and two-year postnatal follow-up.</p><p><strong>Conclusions: </strong>This case represents a successful application of combined nuclear, mitochondrial, and chromosomal PGT in a family. Our findings provide valuable clinical evidence supporting blastocyst-stage PGT for mtDNA variants, indicating PGT to be a reliable reproductive option for females with low-level pathogenic mtDNA variants.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110214","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}
Fadi Choucair, Rana Alhamdan, Alex Varghese, Carin Huyser
{"title":"A call to action for the harmonization of education and training for clinical embryologists: a framing paper.","authors":"Fadi Choucair, Rana Alhamdan, Alex Varghese, Carin Huyser","doi":"10.1007/s10815-026-04039-1","DOIUrl":"https://doi.org/10.1007/s10815-026-04039-1","url":null,"abstract":"<p><p>The rapid expansion of assisted reproductive technology (ART) treatment cycles, facilities, and fertility services has created unprecedented demand for a skilled workforce. Concurrently, clinical embryology has expanded in complexity and scope. Nevertheless, education and training for clinical embryologists remain inconsistent worldwide, with only a limited number of well-established frameworks. This framing paper examines gaps in education, training, competency assessment, and professional recognition and presents a pragmatic roadmap to support a proficient and sustainable workforce. We review representative training models for embryologists and identify persistent gaps within the laboratory workforce. Together, these insights aim to guide the development of a consistent, competency-based global clinical embryology workforce.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110252","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 subclinical ovarian damage to reproductive outcomes: a translational perspective on PI3K/AKT/mTOR signaling in fertility preservation.","authors":"Oya Korkmaz","doi":"10.1007/s10815-026-04038-2","DOIUrl":"https://doi.org/10.1007/s10815-026-04038-2","url":null,"abstract":"<p><p>Gonadotoxic cancer therapies have significantly improved patient survival but frequently compromise female reproductive potential, leading to diminished ovarian reserve and infertility. Although ovarian damage is traditionally assessed using clinical indicators such as anti-Müllerian hormone levels and menstrual irregularities, accumulating evidence suggests that injury may begin at a subclinical level before functional decline becomes apparent. Early alterations include histological changes, granulosa cell apoptosis, oxidative stress, and activation of DNA damage responses. Dysregulation of the phosphoinositide 3-kinase/protein kinase B/mammalian target of rapamycin (PI3K/AKT/mTOR) pathway may further contribute to premature follicular recruitment and ovarian reserve depletion. However, much of this mechanistic evidence derives from experimental models, and direct prospective human evidence remains limited. This review proposes a unifying \"subclinical damage-signaling-outcome axis\" linking early molecular injury and signaling dysregulation with subsequent reproductive consequences, including impaired oocyte quality and adverse fertility outcomes. By integrating experimental and clinical evidence, this framework provides a translational perspective on gonadotoxic ovarian injury and highlights potential opportunities for early detection and targeted fertility preservation. Further prospective studies are required to validate its clinical utility and determine whether these molecular insights can inform individualized fertility preservation strategies.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110229","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":"Nationwide survey of cryostorage tank management for fertility preservation in Japan.","authors":"Satoshi Mizuno, Isao Tamura, Hiroyuki Tomari, Osamu Okitsu, Tadashi Okimura, Hiroyuki Kikuchi, Ken Taniguchi, Kuniaki Ota, Yusuke Fukuda, Yuki Horage, Tadashi Maezawa, Nao Suzuki","doi":"10.1007/s10815-026-04037-3","DOIUrl":"https://doi.org/10.1007/s10815-026-04037-3","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to investigate cryostorage tank management practices in Japan at the time of the survey and to identify challenges to establishing a system for long-term safe storage of fertility preservation specimens.</p><p><strong>Methods: </strong>Embryologists from 622 institutions registered for in vitro fertilization and embryo transfer with the Japan Society of Obstetrics and Gynecology were surveyed online about their practice of cryostorage tank management.</p><p><strong>Results: </strong>The response rate was 56.6%. In 92.1% of facilities, the remaining liquid nitrogen status in the tank was monitored once per week or more frequently, with the longest reported monitoring interval being once per month. Monitoring methods for liquid nitrogen levels were liquid level measurements (72.2%), tank weight (5.1%), both methods (10.5%), and refilling at predetermined intervals without checking the remaining liquid nitrogen level (12.2%). Only 9.7% of facilities had alarm systems installed on the tanks. Procedures for responding to tank failure were established in 45.2% of facilities. Most of these measures addressed compensation or patient consent, and only 30.4% of facilities had considered responses specifically aimed at preventing specimen loss in the event of tank failure.</p><p><strong>Conclusion: </strong>This nationwide baseline survey suggests that, at the time of the survey, routine monitoring of liquid nitrogen levels was widely practiced in Japan. In contrast, preparedness for rapid liquid nitrogen loss due to vacuum insulation failure of the tanks was limited, particularly in terms of alarm systems and specific response measures. To address these issues, the development of detailed guidelines and standardized operational procedures for cryostorage tank management is considered necessary.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149074762","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}
Libing He, Yaqiong Xiang, Jiajing We, Lin He, Yu Qiu, Tongyong Luo, Lin Wang, Niu Wang, Jesse Li-Ling, Yan Gong
{"title":"Outcomes of IVF-ET in patients with mosaic Turner syndrome: a retrospective study.","authors":"Libing He, Yaqiong Xiang, Jiajing We, Lin He, Yu Qiu, Tongyong Luo, Lin Wang, Niu Wang, Jesse Li-Ling, Yan Gong","doi":"10.1007/s10815-026-04035-5","DOIUrl":"https://doi.org/10.1007/s10815-026-04035-5","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the outcomes of in vitro fertilization and embryo transfer (IVF-ET) between patients with mosaic Turner syndrome (TS) and those with a normal karyotype, and assess the impact of the degree of mosaicism on the outcome of IVF-ET treatment.</p><p><strong>Methods: </strong>Patients undergoing IVF-ET between January 2022 and October 2024 were retrospectively included. After 1:2 propensity score matching (PSM), 99 patients with mosaic TS and 198 patients with a normal karyotype were assigned into the TS group and control group, respectively. The TS group was further stratified into low mosaicism (< 10% abnormal cells) and high mosaicism (≥ 10% abnormal cells) subgroups. The ovarian response, quality of oocytes and embryos, and outcomes of first embryo transfer cycle were compared.</p><p><strong>Results: </strong>The blastocyst rate was significantly lower in the TS group compared to the control group (43.45% vs. 51.40%, p = 0.011). Subgroup analysis revealed that the high mosaicism group had a significantly lower blastocyst rate compared to the low mosaicism group (38.39% vs. 48.76%, p = 0.034). No significant difference was detected in the rates of metaphase Ⅱ oocyte, normal fertilized oocyte, cleavage embryo, high-quality cleavage embryo, high-quality blastocyst, clinical pregnancy, live birth, miscarriage, complications during pregnancy, and birth weight and height of infants between the TS and control groups (p > 0.05) or between the TS subgroups.</p><p><strong>Conclusion: </strong>The blastocyst formation rate was lower in patients with mosaic TS compared to those with a normal karyotype, showing a trend of decline along with the extent of mosaicism, while the outcomes of pregnancy are comparable.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149074876","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}