Journal of Assisted Reproduction and Genetics最新文献

{"title":"Correction: An additive opinion to the committee opinion of ASRM and SART on the use of preimplantation genetic testing for aneuploidy (PGT-A).","authors":"Norbert Gleicher, David H Barad, Pasquale Patrizio, Sonia Gayete-Lafuente, Andrea Weghofer, Zion Ben Rafael, Shizuko Takahashi, Demián Glujovsky, Ben W Mol, Raoul Orvieto","doi":"10.1007/s10815-025-03428-2","DOIUrl":"https://doi.org/10.1007/s10815-025-03428-2","url":null,"abstract":"","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440978","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":"Family misfortune caused by hereditary bias: a reflection on mitochondrial disease diagnosis in a family.","authors":"Yan Meng, Lin Wan, Xi-Ying Yang, Fang Han, Meng-Na Zhang, Wen He, Xiu-Yu Shi, Guang Yang, Li-Ping Zou, Lin-Yan Hu","doi":"10.1007/s10815-025-03399-4","DOIUrl":"https://doi.org/10.1007/s10815-025-03399-4","url":null,"abstract":"<p><strong>Aim: </strong>Assisted reproductive technology (ART) is an invaluable strategy for preventing the inheritance of genetic disorders and promoting the birth of healthy children. Nevertheless, the general public's limited understanding of genetics and low awareness of available services obstruct effective utilization of genetic counseling. Our analysis of a family affected by mitochondrial genetic disease aims to improve public understanding of genetic knowledge and the importance of genetic counseling.</p><p><strong>Methods: </strong>We gathered comprehensive data on a family with mitochondrial disease and scrutinized the genetic sequencing and diagnostic procedures used to identify mitochondrial disease within the family.</p><p><strong>Results: </strong>In a case involving a family with two daughters, both began to exhibit symptoms such as abnormal gait, myodystonia, and excessive fatigue at the age of 4. These symptoms were incorrectly assumed to be paternally inherited, as the mother believed the father had a mild intellectual disability. As a result, the family opted for ART, specifically in vitro fertilization (IVF) with donor sperm, without thorough genetic counseling or a conclusive diagnosis for the children. Despite these precautions, the son born from IVF presented with symptoms mirroring his sisters' at the age of 6, including typical MRI abnormal signals in the bilateral basal ganglia. Furthermore, the eldest daughter's naturally conceived child also started to show identical symptoms by the age of 3. Subsequent genetic testing revealed a homoplasmic pathogenic mutation in the MT-ND6 gene (m.14459G>A), confirming that the dystonia was maternally inherited, with the mother exhibiting an 89.2% heteroplasmic variation in the same gene.</p><p><strong>Conclusions: </strong>This case study demonstrates the significant consequences of a lack of genetic knowledge and prevailing misconceptions when applying ART. It underscores the urgent need to bolster genetic literacy and emphasizes the vital importance of informed decision-making within genetic healthcare services.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399404","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":"Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.","authors":"Shahrashoub Sharifi, Murat Dursun, Ayla Şahin, Serdar Turan, Ayşe Altun, Özden Özcan, Arif Kalkanlı, Kıvanç Çefle, Şükrü Öztürk, Şükrü Palanduz, Ateş Kadıoğlu","doi":"10.1007/s10815-025-03409-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03409-5","url":null,"abstract":"<p><strong>Background: </strong>Non-obstructive azoospermia (NOA) is considered one of the most severe forms of male infertility. Despite the limited range of testicular phenotypes, NOA exhibits considerable genetic heterogeneity. The aim of this study was to uncover the etiopathogenesis of NOA and provide insights into the outcomes of testicular sperm extraction (TESE).</p><p><strong>Material method: </strong>To elucidate the potential causes of testicular pathogenesis, a cohort of 61 patients was analyzed. The genetic etiology was assessed using our developed gene panel, based on genes with prior functional studies conducted specifically in the context of testicular characterization.</p><p><strong>Results: </strong>Our analytical approach, built upon these findings, enabled us to explore the potential genetic causes of NOA and assess their relevance to TESE outcomes. A potential causal defect was identified in 14 genes across a total of 26 individuals (42%). Of these, three genes-MEIOB, TERB1, and USP26-had been previously described in men, while eight genes-SPO11, RBBP7, STS, RBMXL3, ZCCHC13, HUWE1, ESR1, and ABCD1-had been reported in prior studies. Additionally, three genes-CEP85, NAP1L3, and CENPI-had been previously described only in knockout (KO) phenotype studies, and this study represents the first identification of these genes in men.</p><p><strong>Conclusion: </strong>Interestingly, the histological findings of meiotic arrest were strongly linked to genes involved in meiosis, reinforcing the clinical diagnosis of patients in this cohort. Additionally, our study underscores the importance of refining diagnostic strategies that focus on genes associated with testicular phenotypes, which could enhance the accuracy of TESE success predictions.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390890","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":"Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate.","authors":"Polina N Tsabai, Nadezhda S Pavlova, Taras V Shatylko, Zaira Kh Kumykova, Olga K Stupko, Taisya O Kochetkova, Nataliia N Lobanova, Andrey Yu Goltsov, Olga O Leukhina, Jekaterina Shubina, Safar I Gamidov, Elena V Uvarova, Dmitry Yu Trofimov","doi":"10.1007/s10815-025-03417-5","DOIUrl":"https://doi.org/10.1007/s10815-025-03417-5","url":null,"abstract":"<p><strong>Purpose: </strong>Premature ovarian insufficiency (POI) and non-obstructive azoospermia (NOA) are the most severe forms of infertility. Pathogenic variants in a number of genes cause both disorders in siblings. One of them is STAG3, which encodes a meiosis-specific subunit of a cohesin complex. Here, we searched for genetic cause of oligoasthenoteratozoospermia (OAT) and POI within one family.</p><p><strong>Methods: </strong>The proband was a 16-year-old girl with secondary amenorrhea. She was diagnosed with hypergonadotropic hypogonadism and streak ovaries. She had normal karyotype 46,XX and no premutation in FMR1 gene. Her 28-year-old brother was diagnosed with severe oligoasthenoteratozoospermia (OAT) syndrome. The aneuploidy rate in his sperm was assessed by FISH assay and appeared to be extremely high with only 5% of morphologically normal spermatozoa being haploid. He had normal karyotype 46,XY and no AZF microdeletions.</p><p><strong>Results: </strong>Whole exome sequencing identified two likely pathogenic heterozygous truncating variants in STAG3 gene, prevously described p.Arg926Ter and novel p.Glu1184Ter. Sanger sequencing showed that both the patient and her brother were compound heterozygotes.</p><p><strong>Conclusion: </strong>In this study, we suggest the association of the identified variants in STAG3 gene with OAT syndrome and POI and describe the third familial case of STAG3-related infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390971","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":"Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning.","authors":"Maria Katz, Noor Siddiqui, Barry Behr, Dhruva Chandramohan, Qinnan Zhang, Funda Suer, Yuntao Xia, Benjamin Podgursky","doi":"10.1007/s10815-025-03397-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03397-6","url":null,"abstract":"<p><strong>Purpose: </strong>The study investigates patient perspectives on the use of Preimplantation Genetic Testing for Polygenic disease (PGT-P) to select embryos with lower risks for common polygenic diseases. Participant responses and attitudes were evaluated after receiving simulated embryo PRS generated from their personal genetic profile.</p><p><strong>Methods: </strong>Couples seeking OB/GYN or Reproductive Endocrinology and Infertility (REI) care with an interest in genetic risks for common diseases in their prospective children participated. A tool provided PRS scores for 11 conditions, using parental DNA to simulate genetic risks for hypothetical embryos produced during IVF. Participants received counseling, reviewed results online, and completed a post-test survey. Feedback from 90 participants assessed understanding and attitudes toward PRS use in IVF.</p><p><strong>Results: </strong>Participants were overall more supportive of screening embryos for childhood-onset diseases (80%) compared to adult-onset conditions (63%); however, among specific diseases, participants expressed the greatest interest in screening for adult-onset cognitive disorders (Schizophrenia, 86%, Alzheimer's disease, 82%). Participant-free responses noted the importance of personalized counseling and participants not of European ancestry expressed frustration with limited PRS applicability. Negative reactions to testing (nervousness or anxiety 5%, regret 2%) were explored.</p><p><strong>Conclusions: </strong>The findings examine the receipt of simulated embryo PRS in a patient population in which support for using PRS during embryo prioritization is high. Positive patient interest was consistent with other US studies; as prior studies identify significant clinician discomfort, these results highlight the need for comprehensive genetic counseling and inclusive stakeholder input in shaping guidelines for PRS during IVF.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390975","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":"Sperm oxidative damage acquired during seminal plasma removal for assisted reproductive technology is reduced by BGP-15.","authors":"Macarena B Gonzalez, Ryan D Rose, Haley S Connaughton, Gracie Mackintosh, Caitlyn Bugeja, Michael Barry, Nicole O McPherson, Rebecca L Robker","doi":"10.1007/s10815-025-03418-4","DOIUrl":"https://doi.org/10.1007/s10815-025-03418-4","url":null,"abstract":"<p><strong>Purpose: </strong>Semen manipulation for assisted reproductive technology (ART) causes spermatozoa damage; thus, we investigated the potential of the novel therapeutic BGP-15 to preserve sperm quality during semen washing prior to insemination.</p><p><strong>Methods: </strong>Donated human ejaculates (N = 40), with or without 10 µM BGP-15, were analyzed for sperm motility, DNA fragmentation, and oxidation. Seminal plasma was removed using different clinical sperm selection methods: simple wash, swim-up, or density gradient centrifugation (DGC), followed by assessment for sperm motility, mitochondrial ROS (mtROS), mitochondrial membrane potential (MMP), and DNA fragmentation and oxidation.</p><p><strong>Results: </strong>Donated semen samples incubated with BGP-15 had increased sperm motility (+ 15%, p = 0.002) and reduced oxidative DNA damage levels (- 57%, p = 0.03). Samples processed by simple wash had the highest sperm count compared with DGC (+ 55%, p < 0.005) and swim-up (+ 21%, p < 0.0005). Swim-up showed increased vitality compared with DGC (+ 18%, p < 0.001) and simple wash (+ 27%, p < 0.0001), as well as the lowest DNA oxidation levels compared with simple wash - 40%, (p = 0.01) and DGC (- 76%, p < 0.0001). Swim-up also had the lowest mitochondrial membrane potential compared with simple wash and DGC (- 28%, p < 0.03). Comparison between untreated and BGP-15-treated groups for each sperm washing method showed that BGP-15 increased MMP in DGC sperm (+ 11%, p = 0.0006), and reduced DNA fragmentation in washed samples (- 22%, p = 0.03). Moreover, BGP-15 lowered DNA oxidation in all preparation methods: washed (- 48%, p = 0.002), swim-up (- 42%, p = 0.04), and DGC (- 29%, p < 0.0001).</p><p><strong>Conclusions: </strong>The inclusion of BGP-15 during semen preparation can protect sperm quality and, in the future, may be used clinically to improve sperm selection methods.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399408","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":"Effect of SARS-CoV-2 infection on sperm telomere length.","authors":"Murilo Racy Soares, Roberto Marins de Carvalho, Heithor Dos Santos Cirino, Ronaldo Martins, Cristiana Libardi Miranda Furtado, Bárbara Amélia Aparecida Santana, Rodrigo Tocantins Calado, Rui Alberto Ferriani, Rosana Maria Dos Reis","doi":"10.1007/s10815-025-03408-6","DOIUrl":"https://doi.org/10.1007/s10815-025-03408-6","url":null,"abstract":"<p><strong>Purpose: </strong>The repercussions and outcomes of the coronavirus disease 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has raised concerns about potential adverse effects on the male reproductive system. Telomeres are crucial in maintaining the integrity and stability of genomic DNA, and viral infections can induce changes in telomere biology. In this study, the repercussions of SARS-CoV-2 infection in male reproductive health were analyzed.</p><p><strong>Methods: </strong>This case-control study enrolled subjects who donated blood and semen samples. Fifty-six men with and 56 without prior COVID-19 infection, ages 18-45 years, were included. Semen analysis and hormonal levels were evaluated. The presence of SARS-CoV-2 RNA in semen and the sperm telomere length were assessed by quantitative polymerase chain reaction and associated with clinical and laboratory data. To reduce interference factors, known variables that influence telomere length were analyzed independently.</p><p><strong>Results: </strong>Sperm telomere length was significantly diminished in the COVID-19 positive group with a mean difference of 0.635 compared to the negative group (p = 0.041). Most individuals in the COVID-19 positive group were clinically classified as asymptomatic/mild illness, and all samples were collected more than 90 days after recovery. No statistically significant differences were observed between the groups in terms of clinical data, semen parameters, and serum levels of follicle-stimulation hormone, estradiol, and testosterone. Persistent or subgenomic SARS-CoV-2 RNA was not detected in the semen samples.</p><p><strong>Conclusion: </strong>This study revealed that SARS-CoV-2 infection reduced sperm telomere length without alterations in semen parameters or hormonal levels. These results provide further evidence that SARS-CoV-2 infection can induce genomic alterations in human sperm.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399402","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":"Smaller follicle diameter improves outcomes in natural LPOS: a retrospective cohort study.","authors":"Jifan Tan, Sirui Liao, Dehai Gan, Guoqing Fan, Yanwen Xu, Jia Huang, Yuan Yuan","doi":"10.1007/s10815-025-03421-9","DOIUrl":"https://doi.org/10.1007/s10815-025-03421-9","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate the optimal follicular diameter at the initiation of luteal-phase ovarian stimulation (LPOS) protocol after natural ovulation to achieve better laboratory outcomes.</p><p><strong>Methods: </strong>This retrospective cohort study analyzed 286 in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) cycles in patients who began the LPOS protocol after natural ovulation. Patients were categorized into three groups based on follicle diameter at initiation: small diameter follicles (SDF, < 5 mm, n = 74), medium diameter follicles (MDF, 5.0-7.9 mm, n = 140), and large diameter follicles (LDF, ≥ 8 mm, n = 72). Linear regression analysis was used to assess the relationship between initial follicle diameter and laboratory outcomes.</p><p><strong>Result: </strong>Significant differences were noted in anti-Müllerian hormone (AMH), body mass index (BMI), and initial gonadotropin (Gn) dose among the groups. Primary outcomes included oocyte retrieval rate (SDF vs. MDF vs. LDF: 0.92 ± 0.88 vs. 0.68 ± 0.48 vs. 0.58 ± 0.54, p = 0.004), mature oocyte retrieval rate (0.78 ± 0.74 vs. 0.58 ± 0.43 vs. 0.51 ± 0.50, p = 0.01), and 2PN rate (0.58 ± 0.68 vs. 0.44 ± 0.40 vs. 0.36 ± 0.43, p = 0.03) in the SDF group were significantly higher than those in the MDF and LDF groups. Multivariate regression analysis, adjusting for potential confounders such as age, AMH levels, baseline follicle-stimulating hormone (FSH) levels, BMI, and initial Gn dosage, revealed negative correlations between the initial follicle diameter and oocyte retrieval rate (p = 0.02), mature oocyte retrieval rate (p = 0.02), and 2PN rate (p = 0.04).</p><p><strong>Conclusions: </strong>Oocyte retrieval rate, mature oocyte retrieval rate, and 2PN rate decreased significantly with increasing follicle diameter at the initiation of LPOS. The optimal laboratory outcome was achieved with an initial follicle diameter of less than 5 mm.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143399406","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":"Analysis of Tanner stage in children conceived after the diagnosis of infertility: the DESCRT study.","authors":"Jane Y Liu, Richard Hu, Robert H Lustig, David Huang, Amanda J Adeleye, Paolo Rinaudo, Marcelle I Cedars, Lydia B Zablotska","doi":"10.1007/s10815-025-03395-8","DOIUrl":"https://doi.org/10.1007/s10815-025-03395-8","url":null,"abstract":"<p><strong>Purpose: </strong>Use of assisted reproductive technology (ART) could lead to abnormal pubertal development in children. We compared pubertal development in children conceived using ART to non-in vitro fertilization fertility treatment (NIFT) and unassisted (UA) conception.</p><p><strong>Methods: </strong>Children from the Developmental Epidemiological Study of Children through Reproductive Technology (DESCRT) were assessed for pubertal development according to the standardized protocol. Tanner staging (breast, testes, and pubic hair development) was compared between ART, NIFT, and UA-conceived children. Differences were analyzed using Wilcoxon rank-sum test, Pearson's chi-squared test, and Fisher's exact test. Multivariable logistic regression was used to assess association between method of conception and pubertal development.</p><p><strong>Results: </strong>The sample included 290 children (164 boys and 126 girls) at median age 6 years (range 4 to 18 years); 229 were conceived using ART compared to a combined reference group of 29 conceived via NIFT and 32 via UA. Statistical analyses adjusted for children's age, height, and weight showed statistically non-significant trends wherein boys conceived via ART tended to be in later Tanner stages for pubarche (OR = 2.33, 95% CI 0.44-12.21) and gonadarche (OR = 4.27, 95% CI 0.44-41.99), and girls tended to be in later stages for pubarche (OR = 4.29, 95% CI 0.40-45.62) and thelarche (OR = 2.23, 95% CI 0.35-14.03) compared to the reference group.</p><p><strong>Conclusion: </strong>As ART becomes more widespread, developmental concerns become increasingly prominent. While results were statistically non-significant, we observed a trend toward differences in pubertal development between ART-conceived children and those conceived without assistance or NIFT.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364808","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":"Spermatozoa centriole quality determined by FRAC may correlate with zygote nucleoli polarization-a pilot study.","authors":"Derek F Kluczynski, Ankit Jaiswal, Min Xu, Nagalakshmi Nadiminty, Barbara Saltzman, Samantha Schon, Tomer Avidor-Reiss","doi":"10.1007/s10815-025-03411-x","DOIUrl":"https://doi.org/10.1007/s10815-025-03411-x","url":null,"abstract":"<p><strong>Purpose: </strong>Spermatozoa centriolar defects can result in abnormal zygote functions. Recently, a method to quantify spermatozoa centriolar defects was developed named Fluorescence-Based Ratiometric Analysis of Sperm Centrioles (FRAC). However, whether spermatozoa centriolar defects identified by FRAC can result in abnormal zygote functions was not tested.</p><p><strong>Methods: </strong>Here, we quantified spermatozoa centriolar defects using FRAC, and zygote centriole function was assessed by imaging Nucleolus Precursor Body (NPB) polarization which was based on the pattern of NPB polarization. Data was analyzed at couple and embryo levels. Subjects were divided into two groups: seven couples and 62 embryos with normal spermatozoa centrioles versus eight couples and 78 embryos with abnormal spermatozoa centrioles (140 embryos from 15 couples in total).</p><p><strong>Results: </strong>Patterned NPB polarization was statistically significant in both couple- and embryo-level analyses (p < 0.0001 and p = 0.0024). These results suggest that the abnormal spermatozoa centrioles identified by FRAC may correlate with abnormal zygote centrosome function via NPB polarization scoring.</p><p><strong>Conclusions: </strong>This study provides a foundation for more extensive studies to test for FRAC's utility in assessing spermatozoa centriole quality.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364842","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}