Journal of Assisted Reproduction and Genetics最新文献

{"title":"Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilization.","authors":"Siyuan Xie, Meiling Zhang, Fengyan Wu, Ran Yu, Jing Fu, Rong Shi, Qiaoli Li, Biaobang Chen, Juanzi Shi, Tianyu Wu, Xiaoxi Sun, Qing Sang, Lei Wang, Weijie Wang, Jian Mu","doi":"10.1007/s10815-025-03626-y","DOIUrl":"10.1007/s10815-025-03626-y","url":null,"abstract":"<p><strong>Purpose: </strong>To identify the disease-causing gene behind infertile couples with female infertility and abnormal fertilization.</p><p><strong>Methods: </strong>Whole-exome sequencing and Sanger sequencing were used to identify variants in disease-causing genes in 119 infertile couples with abnormal fertilization. Molecular modeling and functional analysis were used to evaluate the pathogenic effects of the variants.</p><p><strong>Results: </strong>We identified one homozygous ASTL variant and three homozygous WEE2 variants from four affected individuals. Among them, WEE2 variants c.1006_-1007insTA (p.His337Tyrfs*24) and c.585G > C (p.Lys195Asn) have been previously reported. Structural modeling indicated that the novel ASTL variant c.643G > A (p.Glu215Lys) disrupted the hydrogen bond with Gly-213, while the novel WEE2 variant c.791C > T (p.Ala264Val) significantly decreased tyrosine 15 phosphorylation on Cdc2 and reduced pronucleus formation rate in vitro. In addition, intracytoplasmic sperm injection with assisted oocyte activation (ICSI-AOA) can prevent polyspermy in oocytes with ASTL c.643G > A (p.Glu215Lys) variant and can assist patients in delivering a girl.</p><p><strong>Conclusions: </strong>We identified novel homozygous variants in ASTL and WEE2, and functional analysis confirmed the pathogenicity of these variants. In addition, ICSI-AOA rescued the polyspermy phenotype in patients with ASTL c.643G > A (p.Glu215Lys) variant. Our findings further reveal the important role of ASTL and WEE2 in female reproduction and expand the mutational spectrum of the abnormal fertilization related genes ASTL and WEE2.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882890","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":"Navigating fertility care in the telehealth era: association of consultation mode with patient engagement and pregnancy outcomes.","authors":"Stephanie Willson, Leah Roberts, Thomas Molinaro, Kassie Bollig","doi":"10.1007/s10815-025-03620-4","DOIUrl":"10.1007/s10815-025-03620-4","url":null,"abstract":"<p><strong>Purpose: </strong>To examine levels of patient engagement in fertility care by evaluating the association between initial visit type (in-person versus telehealth) and discharge with an ongoing pregnancy.</p><p><strong>Methods: </strong>Retrospective study of all new patient visits (n = 5527) at an academic fertility clinic from April 2020 to March 2021. The primary outcome was ongoing pregnancy with discharge to obstetrical care, stratified by treatment type: non-in vitro fertilization (IVF) treatment versus IVF. Secondary outcomes included the highest level of patient engagement achieved, defined as the furthest stage in clinical assessment and treatment of infertility, if the primary outcome was not achieved.</p><p><strong>Results: </strong>A total of 5527 patients were included (telehealth: n = 1331, in-person: n = 4196). Overall, 44.4% and 47.1% of those who had a telehealth and in-person consultation, respectively, achieved an ongoing pregnancy as a result of any fertility treatment. When stratified by those who utilized non-IVF versus IVF treatment, there was no difference in the probability of discharge with an ongoing pregnancy as a result of treatment after adjusting for age, BMI, time from first visit, AMH, and infertility diagnosis (non-IVF: aOR 1.07, 95% CI 0.73-1.57, p = 0.725; IVF: aOR 0.95, 95% CI 0.74-1.22, p = 0.688). Those who had an initial in-person visit were 55% more likely to complete diagnostic testing compared to those who had a telehealth visit (telehealth compared to in-person: aOR 0.55, 95% CI 0.45-0.67, p < 0.001).</p><p><strong>Conclusions: </strong>Among those who pursue infertility treatment to conceive, there is no association between initial visit type and ongoing pregnancy as a result of non-IVF or IVF treatment.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873375","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":"Normozoospermic seminal fluid extracellular vesicles could ameliorate adverse effects of freeze-thaw in oligoasthenoteratospermia men.","authors":"Roya Hassani, Hamid Reza Asgari, Morteza Koruji, Zahra Zandieh, Zohreh Nazmara","doi":"10.1007/s10815-025-03597-0","DOIUrl":"https://doi.org/10.1007/s10815-025-03597-0","url":null,"abstract":"<p><strong>Background: </strong>Cryopreservation can lead to sperm damage, which is why incorporating extracellular vesicles derived from normal semen can help protect against the damage caused by freezing.</p><p><strong>Materials and methods: </strong>Extracellular vesicles were obtained from normozoospermic semen samples (n = 15), and their effects on the cryopreservation process were studied in three groups: the control group (A, n = 6), the extracellular vesicles treated before freezing group (B, n = 6), and the extracellular vesicles treated after freezing group (C, n = 6). Characteristics of sperm after thawing, including morphology, viability, motility, total antioxidant capacity (TAC), the rate of apoptosis, mitochondrial membrane potential (MMP), and the DNA fragmentation index (DFI), as well as the expression levels of the BAX, BCL₂, CRISP₃, and KRAS genes, were examined.</p><p><strong>Results: </strong>Group B displayed a significant increase in total motility, progressive motility, normal morphology, and MMP compared to groups A, and DNA fragmentation (DFI) showed a significant decrease compared to groups A and C. Also, vitality and TAC were significantly increased in group B compared to groups A and C. Decreased level of apoptosis was evident in group B compared to group A. Group A exhibited a significant increase in the expression of BAX/BCL₂ ratio compared to groups B and C. Significantly higher expression of KRAS and CRISP₃ was evident in group B compared to groups A and C.</p><p><strong>Conclusion: </strong>Extracellular vesicles obtained from normozoospermic seminal plasma could protect against the adverse cryopreservation effects through increased MMP and TAC, as well as decreased expression of BAX/BCL₂ ratio and increased KRAS and CRISP₃.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873376","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":"Understanding the gaps in research on donor motivations and their views on identity release.","authors":"Vareesha Javed, Talha Ali","doi":"10.1007/s10815-025-03621-3","DOIUrl":"https://doi.org/10.1007/s10815-025-03621-3","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873377","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 repeated vitrification and biopsy on the developmental potential of blastocysts and clinical outcomes: A retrospective propensity-score-matched cohort study.","authors":"Juanjuan Zou, Xuejiao Shi, Haifeng Lu, Zhiguo Zhang, Yan Hao, Yunxia Cao, Dawei Chen","doi":"10.1007/s10815-025-03630-2","DOIUrl":"https://doi.org/10.1007/s10815-025-03630-2","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the effects of repeated vitrification and trophectoderm (TE) biopsy procedures during preimplantation genetic testing (PGT) on blastocyst developmental potential and clinical outcomes.</p><p><strong>Methods: </strong>This retrospective study analyzed data from January 2018 to January 2024. The study group included 229 blastocysts from 85 patients that underwent double vitrification (with either single or double biopsy). The control group consisted of 2,611 embryos from 654 patients who underwent conventional PGT with a single vitrification. Propensity score matching (PSM) in a 1:2 ratio was employed to balanced baseline characteristics. The primary outcome was live birth rate, with secondary outcomes including ploidy status, implantation, and miscarriage rates.</p><p><strong>Results: </strong>After PSM, the double-vitrification group (226 blastocysts) was compared to a matched single-vitrification group (719 blastocysts). The double-vitrification group exhibited a significantly lower live birth rate (32.61% vs. 54.87%, p = 0.011). For embryos biopsied on Day 5, the double-vitrified group showed a significantly lower euploidy rate (37.80% vs. 48.79%, p = 0.032). A subgroup analysis within the double-vitrification group found no significant differences in ploidy status, clinical pregnancy rates, or live birth rates between embryos that underwent a single biopsy versus those that underwent a double biopsy (p > 0.05).</p><p><strong>Conclusion: </strong>Repeated vitrification negatively impacts clinical outcomes in PGT cycles, specifically by reducing the live birth rate. However, the frequency of biopsy (single vs. double) does not appear to significantly affect clinical success. These findings suggest that while re-biopsy is a viable option for inconclusive cases, caution should be exercised regarding repeated vitrification procedures.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144873374","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":"Fortification with folic acid and early human embryo development: lessons from assisted reproduction.","authors":"Yves Ménézo, Kay Elder, Patrice Clement, Maurizio Dattilo, Pasquale Patrizio","doi":"10.1007/s10815-025-03613-3","DOIUrl":"https://doi.org/10.1007/s10815-025-03613-3","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859251","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 COVID-19 on live birth and perinatal outcomes following subsequent frozen-thawed embryo transfer.","authors":"Yao Lu, Zhe Wei, Yaqiong He, Jiaan Huang, Qinling Zhu, Ying Ding, Wen Lin, Steven R Lindheim, Yun Sun","doi":"10.1007/s10815-025-03573-8","DOIUrl":"https://doi.org/10.1007/s10815-025-03573-8","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate whether prior SARS-CoV-2 infection adversely affects live birth and perinatal outcomes following subsequent frozen-thawed embryo transfer (FET) and to further investigate whether the time interval between infection and embryo transfer influences pregnancy outcomes.</p><p><strong>Methods: </strong>In this retrospective cohort study, women who tested positive for SARS-CoV-2 before FET were designated as the infected group (n = 1081), while asymptomatic and test-negative women were included as controls (n = 865). The infected group was further subdivided into four subgroups according to the time interval from infection to FET: ≤ 30, 31-60, 61-90, and ≥ 91 days.</p><p><strong>Results: </strong>Overall, positive HCG rate was significantly lower in the infected group compared to the non-infected group (62.9% vs. 67.5%, adjusted OR = 0.80, 95% CI = 0.66-0.97, P = 0.021), while no significant differences were observed in live birth rates (45.9% vs. 49.7%, adjusted OR = 0.84, 95% CI = 0.70-1.01, P = 0.062). There were no significant differences in clinical pregnancy, pregnancy loss, or any of the measured obstetric and neonatal outcomes between groups. However, women in the ≤ 30 days' subgroup were associated with a significant reduction in positive HCG (adjusted OR = 0.52, 95% CI = 0.33-0.84, P = 0.007), clinical pregnancy (adjusted OR = 0.60, 95% CI = 0.38-0.95, P = 0.029), and live birth rates (adjusted OR = 0.51, 95% CI = 0.31-0.83, P = 0.006) compared to those in the non-infected group, while no such association was observed with the other subgroups.</p><p><strong>Conclusions: </strong>In those undergoing FET, overall, prior SARS-CoV-2 infection does not adversely affect live birth and perinatal outcomes. However, considering the decreased likelihood of live birth among women with shorter intervals, delaying the subsequent FET for at least 30 days after infection could be beneficial.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855310","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":"Identification of missense DMC1 variants in males with non-obstructive azoospermia.","authors":"Noor Ullah, Christopher Pombar, Rachel Hvasta-Gloria, Andrea J Berman, Michelle Malizio, Muhammad Jaseem Khan, Rubina Nazli, Sadia Fatima, Antoni Riera-Escamilla, Helen Castillo-Madeen, Agnieszka Malcher, Marta Olszewska, Miguel J Xavier, Kristiina Lillepea, Avirup Dutta, Carlos A Castro, Anu Valkna, Rain Inno, Kyle E Orwig, Donald F Conrad, Maciej Kurpisz, Joris A Veltman, Maris Laan, Alexander N Yatsenko","doi":"10.1007/s10815-025-03591-6","DOIUrl":"10.1007/s10815-025-03591-6","url":null,"abstract":"<p><strong>Purpose: </strong>Human male infertility is a significant reproductive condition, with non-obstructive azoospermia (NOA) being the most severe form, resulting from impaired spermatogenesis. Many genetic variants have been identified as negatively impacting sperm development and maturation at multiple stages, leading to spermatogenic failure (SPGF). Here, we aim to study such variants, particularly those in the critical, highly conserved, meiosis-specific DMC1 (DNA meiotic recombinase 1) gene, to identify genetic candidates for male infertility and to strengthen DMC1's existing genotype-phenotype relationships.</p><p><strong>Methods: </strong>We used whole exome sequencing (WES) and in silico analysis to investigate select DMC1 variants in a large cohort of infertile sporadic and familial cases (n = 3150).</p><p><strong>Results: </strong>Our familial analyses identified a homozygous DMC1 missense variant, p.Thr55Ile, in two NOA-affected male siblings. We also report additional homozygous missense variants, p.Thr164Ala and p.Tyr194Cys, and one notable, rare single heterozygous variant, p.Asp160Gly, in unrelated sporadic patients. Our 3D protein modeling indicates that each of our identified variants would significantly impact the structure and functional activity of DMC1 protein.</p><p><strong>Conclusion: </strong>Our extensive genomic study identified three rare, recessive DMC1 variants in human NOA patients. Further, we report an alternative maturation arrest phenotype than previously observed in DMC1-related NOA. We also provide preliminary support for the possible exploration of select single heterozygous variants in the DMC1 gene, potentially expanding the male infertility field's understanding of the disease states and inheritance patterns associated with variants in DMC1.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144855309","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":"Global, regional, and national burden and trend of infertility and its subtypes from 1990 to 2021, with projections to 2035.","authors":"Xi Cheng, Jinzhao Ma, Wenhua Wang, Xiting Cai, Biying Li, Li Chen, Bing Yao","doi":"10.1007/s10815-025-03592-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03592-5","url":null,"abstract":"<p><strong>Purpose: </strong>To study the global, regional and national burden and trend of primary and secondary infertility, by sex and sociodemographic index (SDI), over the period 1990-2021.</p><p><strong>Methods: </strong>Data on the prevalence and disability-adjusted life years (DALYs) due to infertility and its subtypes were retrieved from the GBD study 2021 for 204 countries and territories from 1990 to 2021. The counts and age-standardized rates are presented, along with their corresponding 95% uncertainty intervals (UIs). Estimated annual percentage changes (EAPCs) were computed using linear regression analysis. Decomposition analysis was conducted to determine the effects of population growth, aging, and epidemiological shifts on disease burden. Frontier analysis was performed to identify potential improvement areas and disparities among countries by development status. Bayesian age-period-cohort analysis (BAPC) predicted global lung cancer mortality from 2020 to 2035.</p><p><strong>Results: </strong>Globally, the age-standardized prevalence rate (ASPR) of infertility changed from 4071.04 (95% UI: 2660.05, 6223.25) per 100,000 in 1990 to 5030.42 (3207.13, 7918.99) per 100,000 in 2021, with the EAPC being 0.65. The age-standardized DALYs rate (ASDR) changed from 23.15 (8.91, 53.73) per 100,000 in 1990 to 28.54 (11.05, 67.94) per 100,000 in 2021, with the EAPC being 0.52. It is anticipated that the ASPR exhibits a downward trend for overall primary infertility, whereas they are expected to show an upward trend for overall secondary infertility by 2035, in comparison with 2021.</p><p><strong>Conclusions: </strong>Governments and the public should recognize the magnitude of the issue of infertility and prioritize implementing targeted interventions and strategies to improve reproductive health worldwide.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144859252","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":"Investigating perceptions and usage of fertility supplements: a mixed methods analysis of a large online forum.","authors":"Ana F Tomlinson, Meghana Chapalamadugu, Aishwarya Hombal, Suset Rodriguez, Pasquale Patrizio","doi":"10.1007/s10815-025-03625-z","DOIUrl":"https://doi.org/10.1007/s10815-025-03625-z","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to characterize assisted reproductive technology patients' online discussions of fertility supplements to better understand how this audience uses supplements, their attitudes toward perceived effects of the supplement, and the topics patients sought advice on regarding supplements.</p><p><strong>Methods: </strong>This study used mixed methods, sequential exploratory design. We extracted public posts from the Reddit forum, \"r/IVF.\" Posts about fertility supplements were categorized by the described use of supplements and perceived effect of the supplement. Posts in each qualitative category were then quantified, and post author characteristics were analyzed using descriptive statistics.</p><p><strong>Results: </strong>Three hundred sixty-nine posts were included in the analysis. Two hundred nine posts identified specific supplements, and the most frequently mentioned included ubiquinone, vitamin D, omega-3 fatty acids, dehydroepiandrosterone, and myo-inositol. Two hundred seventy-nine authors reported taking supplements; 9.3% reported a positive perceived effect, 12.9% reported a negative perceived effect, and 21.1% asked for advice regarding their supplements. In the remaining 90 posts, 10% of authors expressed concerns and 90% expressed interest in taking supplements. One hundred ninety-seven posts included the indication for using assisted reproductive technology, the most common being diminished ovarian reserve or male factor infertility.</p><p><strong>Conclusion: </strong>Many patients are using supplements with the goal of increasing their chance of assisted reproductive technology success and are seeking guidance on their use online. Some frequently mentioned supplements have limited research and unknown efficacy. The extensive discourse about supplements observed in this study reflects a need for increased guidance and evidence-based medical advice on how patients may use supplements safely and appropriately.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144846639","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}