Alessandro Bartolacci, Carmine Vitiello, Sofia de Girolamo, Enrico Papaleo, Luca Pagliardini
{"title":"Does double cryopreservation as well as double biopsy affect embryo viability and clinical outcomes? Evidence from a systematic review of the literature.","authors":"Alessandro Bartolacci, Carmine Vitiello, Sofia de Girolamo, Enrico Papaleo, Luca Pagliardini","doi":"10.1007/s10815-025-03398-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03398-5","url":null,"abstract":"<p><p>This study evaluates the effects of double cryopreservation and re-biopsy on embryo viability and clinical outcomes. Studies of interest were selected from an initial cohort of 1027 potentially relevant records retrieved. PubMed was systematically searched for peer-reviewed original papers identified by keywords and medical subject heading terms. Moreover, we elaborated the evidence tables for double cryopreservation and re-biopsy separately. Data were systematically extracted, focusing on live birth, survival, clinical pregnancy, and miscarriage rates. For each study, we identified absolute numbers (numerator and denominator) related to clinical outcomes. Finally, for each outcome, we calculated the percentage change between the control and study groups. Among studies on double cryopreservation, 13 out of 22 reported no effect on clinical outcomes, suggesting contradictory results. Similarly, findings on re-biopsy were controversial, with seven out of 12 studies showing negative effects on survival and clinical outcomes, while five reported no impact. In our analysis of the evidence tables, we observed a reduction in live birth rates of 22.2% and 39.3% in blastocysts undergoing double vitrification and re-biopsy, respectively. These findings suggest that repeated micromanipulations can impair embryo competence. Therefore, double cryopreservation and re-biopsy should be limited in the selected cases without other options by consulting patients about the possible harmful effects.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yamila Herrero, Candela Velazquez, Natalia Pascuali, Vanesa Hauk, Ignacio de Zúñiga, Gustavo Martínez, Mariano Lavolpe, Fernando Neuspiller, María Florencia Veiga, Leopoldina Scotti, Dalhia Abramovich, Fernanda Parborell
{"title":"Ovarian function after COVID-19: long-term effects and vaccine safety in ART patients.","authors":"Yamila Herrero, Candela Velazquez, Natalia Pascuali, Vanesa Hauk, Ignacio de Zúñiga, Gustavo Martínez, Mariano Lavolpe, Fernando Neuspiller, María Florencia Veiga, Leopoldina Scotti, Dalhia Abramovich, Fernanda Parborell","doi":"10.1007/s10815-025-03403-x","DOIUrl":"https://doi.org/10.1007/s10815-025-03403-x","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate the long-term impact of mild COVID-19 infection and COVID-19 vaccination on ovarian function in patients undergoing assisted reproductive technology (ART). Specifically, we assessed ovarian outcomes between 9 and 18 months post-infection and investigated the effects of COVID-19 vaccines (inactivated virus and adenovirus) on reproductive parameters.</p><p><strong>Methods: </strong>The study included two objectives: (a) examining ovarian function in post-COVID-19 patients (9-18 months post-infection) compared to a control group and (b) comparing reproductive outcomes in vaccinated versus unvaccinated patients. According to the study objectives, ART patients were divided into the following groups: a control group (n = 30), a post-COVID-19 group (n = 55), an unvaccinated group (n = 70), and a vaccinated group (n = 55). Findings revealed a reduction in the number of retrieved and mature oocytes in patients over 36 years in the post-COVID-19 group. Lower IL-1β levels were found in follicular fluid (FF) of post-COVID-19 patients, while VEGF levels were reestablished between 9 and 18 months post-infection. Although cell migration was reduced in endothelial cells incubated with post-COVID-19 FF, angiogenic factor levels and DNA integrity remained stable. No significant differences in retrieved or mature oocytes were observed between vaccinated and unvaccinated patients.</p><p><strong>Conclusions: </strong>VEGF levels and DNA integrity in FF from post-COVID-19 patients were normalized between 9 and 18 months post-infection. Additionally, COVID-19 vaccination did not negatively impact ovarian response in ART patients, supporting vaccine safety in reproductive contexts.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jing Yan, Lian-Wen Zheng, Ying Xu, Xiu-Ming Chu, Jing-Shun Zhang, Xue-Ying Zhang, Yan Liang, Shan-Shan Liu, Lu-Lu Fu
{"title":"The role of granulocyte-macrophage colony-stimulating factor in female assisted reproductive technology treatment: a systematic review and meta-analysis.","authors":"Jing Yan, Lian-Wen Zheng, Ying Xu, Xiu-Ming Chu, Jing-Shun Zhang, Xue-Ying Zhang, Yan Liang, Shan-Shan Liu, Lu-Lu Fu","doi":"10.1007/s10815-024-03374-5","DOIUrl":"https://doi.org/10.1007/s10815-024-03374-5","url":null,"abstract":"<p><p>The objective of this study is to explore the impact of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF) in female undergoing assisted reproductive technology (ART) on reproductive outcomes. A literature search was performed using electronic databases (PubMed, EMBASE, Web of Science, CNKI, Wanfang data, Geen Medical, and Cochrane Library). Risk ratio (RR), odds ratio (OR), and mean difference (MD) with 95% confidence intervals (CI) for various outcomes were presented. The publication bias and heterogeneity were determined using funnel plot symmetry and I<sup>2</sup> test separately. The combined results of the RCT studies did not reveal statistical differences between the GM-CSF group and the control group for any outcome indicators. However, our pooling of results showed that after meta-analysis of non-RCT studies, GM-CSF had a positive effect on implantation rate (OR 1.90; 95% CI 1.11-3.24), clinical pregnancy rate (OR 1.54; 95% CI 1.21-1.95), live birth rate (OR 1.43; 95% CI 1.04-1.98), and available embryo rate (OR 1.27; 95% CI 1.10-1.46). In conclusion, these results suggest that for a subset of women undergoing ART, GM-CSF may favorably affect CPR, LBR, IR, and available embryo rate (AER). TRIAL REGISTRATION: PROSPERO registration number CRD42022322778.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065982","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}
He Cai, Haiyan Bai, Sen Qiao, Xia Xue, Wenhao Shi, Juanzi Shi
{"title":"Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.","authors":"He Cai, Haiyan Bai, Sen Qiao, Xia Xue, Wenhao Shi, Juanzi Shi","doi":"10.1007/s10815-025-03406-8","DOIUrl":"https://doi.org/10.1007/s10815-025-03406-8","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the efficacy of clinical exome sequencing (CES) in individuals involved in assisted reproductive technology (ART) or sperm donor programs, with a specific focus on its impact on clinical decision-making.</p><p><strong>Methods: </strong>A total of 3991 individuals without a family history of genetic disorders underwent CES targeting 5595 genes at a reproductive center between December 2022 and April 2024. The cohort comprised 217 sperm donors, 232 female recipients, and 1771 couples (3542 patients) undergoing ART with their own gametes. At-risk couples (ARCs) were identified when both partners had a pathogenic or likely pathogenic variant (P/LP) in the same autosomal recessive gene or X-linked variants in females. The analysis primarily examined carrier frequencies, reproductive choices, and outcomes of ARCs.</p><p><strong>Results: </strong>Among the 3991 individuals screened, 3895 (97.6%) were found to carry at least one P/LP variant, with an average carrier burden of 3.8 variants per individual, showing no significant disparity in carrier status between individuals with infertility and sperm donors/recipients. Within the screened couples, 9.3% were identified as ARCs and 2.3% opted for preimplantation genetic testing for monogenic diseases (PGT-M). As of now, 31 ARCs proceeded with the transfer of euploid and unaffected blastocysts, resulting in 8 healthy live births and 13 ongoing pregnancies.</p><p><strong>Conclusion: </strong>The findings reveal a significant prevalence of carrier status for autosomal recessive and X-linked diseases, irrespective of fertility status. This highlights the critical importance of integrating genetic risk counseling and informed reproductive decision-making into fertility clinics and sperm banks.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065979","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}
Francesca Romana Grati, Antonio Capalbo, Ilaria Gabbiato, Paola Battaglia, Maria Carla Pittalis, Domenico Bizzoco, Laura Cardarelli, Valentina Gatta, Fortunato Lonardo, Antonio Novelli, Laura Bernardini, Daniela Zuccarello
{"title":"Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU).","authors":"Francesca Romana Grati, Antonio Capalbo, Ilaria Gabbiato, Paola Battaglia, Maria Carla Pittalis, Domenico Bizzoco, Laura Cardarelli, Valentina Gatta, Fortunato Lonardo, Antonio Novelli, Laura Bernardini, Daniela Zuccarello","doi":"10.1007/s10815-024-03358-5","DOIUrl":"https://doi.org/10.1007/s10815-024-03358-5","url":null,"abstract":"<p><p>This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the \"Working Group in Cytogenomics, Prenatal and Reproductive Genetics\" of the \"Italian Society of Human Genetics\" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143051860","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}
Mohammadreza Ebrahimi, Laura Mara, Sara Succu, Sergio Domenico Gadau, Maria Grazia Palmerini, Fabrizio Chessa, Maria Dattena, Francesca D Sotgiu, Valeria Pasciu, Ilaria Antenisca Mascitti, Guido Macchiarelli, Alberto Maria Luciano, Fiammetta Berlinguer
{"title":"The effect of single versus group culture on cumulus-oocyte complexes from early antral follicles.","authors":"Mohammadreza Ebrahimi, Laura Mara, Sara Succu, Sergio Domenico Gadau, Maria Grazia Palmerini, Fabrizio Chessa, Maria Dattena, Francesca D Sotgiu, Valeria Pasciu, Ilaria Antenisca Mascitti, Guido Macchiarelli, Alberto Maria Luciano, Fiammetta Berlinguer","doi":"10.1007/s10815-025-03404-w","DOIUrl":"https://doi.org/10.1007/s10815-025-03404-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate the effectiveness of single versus group culture strategies for cumulus-oocyte complexes (COCs) derived from early antral follicles (EAFs), with the goal of optimizing culture conditions to increase oocyte availability for assisted reproductive technologies.</p><p><strong>Methods: </strong>COCs isolated from EAFs (350-450 µm) from sheep ovaries were cultured in TCM199 medium supplemented with 0.15 µg/mL Zn<sup>++</sup> as zinc sulfate, 10<sup>-4</sup> IU/mL FSH, 10 ng/mL estradiol, 50 ng/mL testosterone, 50 ng/mL progesterone, and 5 µM Cilostamide. After 5 days of long in vitro culture (LIVC), COCs underwent in vitro maturation. This study investigated the effects of single and group culture conditions on COCs, focusing on morphology (integrity of oocyte-granulosa cell complex), viability, oocyte diameter, chromatin configuration, and ultrastructure. Additional factors influencing developmental competence were assessed, including global transcriptional activity, gap junction communication, and meiotic competence. Intracellular reactive oxygen species (ROS) levels and mitochondrial activity were also measured.</p><p><strong>Results: </strong>No significant differences were observed between groups in terms of morphology, viability, oocyte diameter, chromatin configuration, ROS levels, or mitochondrial activity. However, group culture resulted in ultrastructural changes, with a notable reduction in global transcriptional activity, an increase in active gap junctions, and a higher rate of meiosis resumption (p < 0.01).</p><p><strong>Conclusion: </strong>Overall, group culture of COCs derived from sheep EAFs promoted meiosis resumption, suggesting that this approach could improve in vitro culture techniques, increase the availability of mature gametes, and support fertility preservation programs.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052235","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}
Qianqian Lu, Yun Cheng, Zhi Zhou, Jianing Fan, Jie Chen, Chen Yan, Xin Zeng, Juan Yang, Xinyan Wang
{"title":"Effects of emotions on IVF/ICSI outcomes in infertile women: a systematic review and meta-analysis.","authors":"Qianqian Lu, Yun Cheng, Zhi Zhou, Jianing Fan, Jie Chen, Chen Yan, Xin Zeng, Juan Yang, Xinyan Wang","doi":"10.1007/s10815-025-03388-7","DOIUrl":"https://doi.org/10.1007/s10815-025-03388-7","url":null,"abstract":"<p><p>To assess whether infertile women's psychological conditions, such as depression, anxiety, and stress, are associated with in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) outcomes, we systematically searched for relevant articles from January 1, 2004, to March 29, 2024, in five databases, including PubMed, Web of Science, EMBASE, Cochrane Library, and PsycINFO. A random-effects model was used to examine pooled standardized mean differences (SMD) and 95% confidence interval (CI). A total of 29 articles fulfilled the inclusion criteria and were included in this meta-analysis. The statistical analysis revealed that infertile women with higher levels of anxiety [SMD: -0.17, 95% CI: (-0.27, -0.06), P = 0.002] and depression [SMD: -0.17, 95% CI: (-0.30, -0.04), P = 0.008] were less likely to have a successful pregnancy following IVF/ICSI treatment. Although not statistically significant, the results indicate a trend of increasing IVF/ICSI success with increasing participants' perceived stress levels [SMD: 0.09, 95% CI: (-0.01, 0.19), P = 0.07]. There was also no statistically significant correlation between infertility-related stress and IVF/ICSI outcomes [SMD: -0.26, 95% CI: (-0.79, 0.28), P = 0.35]. In general, it suggested that medical personnel should be aware of the mental health of infertile women involved in IVF/ICSI.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059288","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":"Egg donation advertisements: addressing the regulatory gap.","authors":"Hannah Carpenter, Lisa Campo-Engelstein","doi":"10.1007/s10815-025-03401-z","DOIUrl":"https://doi.org/10.1007/s10815-025-03401-z","url":null,"abstract":"<p><p>Egg donation is a procedure that is powerfully advertised as a beneficial experience with limited mention of the associated risks. Egg donor recruitment advertisements target young and financially insecure women and can serve as a catalyst for interest in egg donation. In the absence of explicit egg donation advertisement regulations and without counterbalancing information from other sources, potential donors may not be able to recognize how advertisements can be misleading. In this paper, we enumerate two types of misleading information in egg donor recruitment advertisements that can influence the decision to donate that might not exist otherwise: (1) the focus on financial benefits and (2) the minimization of health risks. We draw upon existing Federal Drug Administration and Federal Trade Commission regulations that govern other types of medical advertisements and demonstrate their suitability to govern egg donor recruitment advertisements. We conclude that similar regulations could address the regulatory gap in which egg donation advertisements are situated by ensuring that information is balanced and not overly persuasive, thus better protecting the autonomy of egg donors.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052717","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}
Annelore Van Der Kelen, Sophie Uyttebroeck, Stefanie Van de Voorde, Ludovica Picchetta, Ingrid Segers, Jelle Vlaeminck, Bart Johan H Dequeker, Philippe Giron, Antonio Capalbo, Willem Verpoest, Frederik J Hes, Pieter Verdyck, Alexander Gheldof
{"title":"Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.","authors":"Annelore Van Der Kelen, Sophie Uyttebroeck, Stefanie Van de Voorde, Ludovica Picchetta, Ingrid Segers, Jelle Vlaeminck, Bart Johan H Dequeker, Philippe Giron, Antonio Capalbo, Willem Verpoest, Frederik J Hes, Pieter Verdyck, Alexander Gheldof","doi":"10.1007/s10815-025-03402-y","DOIUrl":"https://doi.org/10.1007/s10815-025-03402-y","url":null,"abstract":"<p><strong>Purpose: </strong>Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis. Loss-of-function variants in NOBOX are reported in 1-2% of POI women. This study aims to describe the association of novel NOBOX variants with a distinct oocyte, zygote, and embryo maturation arrest (OZEMA) phenotype in infertile women.</p><p><strong>Methods: </strong>Three unrelated women experiencing OZEMA and undergoing multiple in vitro fertilization (IVF) cycles present with a germline NOBOX variant. The detected variants were cross-referenced with a large genetic database to explore their association with IVF outcomes.</p><p><strong>Results: </strong>A heterozygous NM_001080413.3 (NOBOX): c.1797_1798del, p.(Cys600Phefs*27) variant was detected in a woman with oocyte maturation arrest. Another heterozygous variant, NM_001080413.3 (NOBOX): c.1849C > T, p.(His617Tyr), was detected in two women experiencing embryonic developmental arrest. Segregation analysis in one of the two latter families revealed the presence of the p.(His617Tyr) variant in an affected sister, while the two fertile sisters did not carry this variant. Furthermore, the p.(His617Tyr) variant was found in three women in a large database of whom two presented with an embryonic developmental arrest.</p><p><strong>Conclusion: </strong>Two heterozygous NOBOX variants were identified in women with an OZEMA phenotype. Where pathogenic NOBOX variants are typically linked to POI, our clinical findings suggest that NOBOX plays a role in subsequent oocyte maturation and early embryo development.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052719","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}
Jason D Kofinas, Michelle L Seth-Smith, Yael Kramer, Jessie Van Daele, David McCulloh, Fang Wang, Jamie Grifo, David Keefe
{"title":"Oocytes with impaired meiotic maturation contain increased mtDNA deletions.","authors":"Jason D Kofinas, Michelle L Seth-Smith, Yael Kramer, Jessie Van Daele, David McCulloh, Fang Wang, Jamie Grifo, David Keefe","doi":"10.1007/s10815-025-03393-w","DOIUrl":"https://doi.org/10.1007/s10815-025-03393-w","url":null,"abstract":"<p><strong>Purpose: </strong>Induction of meiotic competence is a major goal of the controlled ovarian stimulation used in ART. Do factors intrinsic to the oocyte contribute to oocyte maturation? Deletions in mtDNA accumulate in long-lived post mitotic tissues and are found in human oocytes. If oogenesis cleanses the germline of deleterious deletions in mtDNA, meiotically competent oocytes should contain lower levels of mtDNA deletions vs. meiotically arrested oocytes. We tested this hypothesis using a novel PCR assay for a deletion ratio in human oocytes derived from IVF.</p><p><strong>Methods: </strong>A real-time PCR assay was developed to measure total mtDNA copy number (mtDNA<sub>CN</sub>) and mtDNA harboring the 5 Kb \"common deletion\" to enable calculation of the mtDNA deletion ratio (mtDNA<sub>DR</sub>) in 143 cultured oocytes. Kruskal-Wallis test was carried out to compare the total mtDNA<sub>CN</sub> and the mtDNA<sub>DR</sub> among oocytes which matured to metaphase II (MII) vs. oocytes arrested at GV or metaphase I (MI).</p><p><strong>Results: </strong>51.75% of oocytes reached MII, and 17% remained at MI. Mean mtDNADR in GV, MI and MII oocytes were 27.87%, 31.88% and 20.05%, respectively. The difference in deletion ratios between GV and MII and between MI and MII stages was statistically significant p < 0.001 and p = 0.034, respectively. Additionally, patient age was found to be positively correlated with time to Polar body extrusion (- 0.278 Pearson correlation).</p><p><strong>Conclusions: </strong>Oocytes with impaired meiotic maturation contain an increased load of mtDNA deletions. This is the first report of an association between the mtDNA deletion ratio and human oocyte maturation in vitro.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038914","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}