Human reproduction最新文献

{"title":"P-199 Multiple Freeze-Thaw Cycles Are Associated with Poorer Embryo Morphology and Live Birth Rates in PGT-Tested FET","authors":"G Beroukhim, F Saleh, Z Rosenwaks, R Elias","doi":"10.1093/humrep/deaf097.508","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.508","url":null,"abstract":"Study question How do frozen embryo transfer (FET) outcomes of preimplantation genetic testing (PGT)-tested embryos compare between those undergoing two versus a single freeze-thaw cycle(s)? Summary answer PGT-tested embryos subjected to two freeze-thaw cycles were noted to have poorer morphology, higher miscarriage rates, and lower live birth rates. What is known already For various clinical reasons, patients who initially froze untested embryos after controlled ovarian hyperstimulation may later thaw those embryos for PGT. However, the impact of two freeze-thaw cycles on embryo potential and FET outcomes remains unclear. Limited research exists on how repeated freeze-thaw cycles affects embryo quality, making patient counseling challenging. This study aims to clarify the effects of two freeze-thaw cycles on FET outcomes. Study design, size, duration A retrospective chart review analyzed FET cases with PGT-tested embryos at Weill Cornell Center for Reproductive Medicine (2020–2024). Among 4724 FETs, 4542 involved testing fresh embryos (T1), while 182 involved thawing frozen embryos for PGT, refreezing, and thawing again for FET (T2). Participants/materials, setting, methods Individuals aged 18–45 who underwent natural cycle or programmed FET with a PGT-tested embryo at a New York academic multicenter clinic were included. Reasons for embryo thawing for PGT were recorded. Blastocysts were categorized by final thaw morphology: excellent (≥3AA), good (3-6AB, 3-6BA, 1-2AA), average (3-6BB, 3-6AC, 3-6CA, 1-2AB, 1-2BA), and poor (1-6BC, 1-6CB, 1-6CC, 1-2BB). Descriptive statistics assessed population characteristics, and Fisher’s exact test compared FET outcomes between T1 and T2. Main results and the role of chance Between 2020 and 2024, 4542 FETs used PGT-tested embryos thawed once (T1). Additionally, 254 embryos underwent thawing for PGT, leading to 182 FETs (T2) of 183 euploid embryos among 127 individuals. Of 72 individuals who did not proceed with FET after thawing, 47 had no euploid embryos. The reasons for embryo thawing for PGT included prior pregnancy loss or failed implantation after untested transfers (n = 55), age-related aneuploidy screening or grouping from multiple retrieval cycles for PGT-A (n = 33), sex selection (n = 19), PGT-M (n = 13), prior termination for aneuploidy (n = 7), and rebiopsy (n = 2). Embryo morphology was poorer after a second thaw, with fewer “excellent” (T2: 0.5% vs. T1: 4.4%, p=.007) and “good” embryos (T2: 19.8% vs. 22.2%, p=.007). Live birth rates were lower in T2 (39.6% vs. 54.6%, p<.001), as were implantation rates per transfer (52.2% vs. 61.0%, p=.020) and per embryo (51.9% vs. 59.9%, p=.032). Miscarriage rates were higher (18.9% vs. 9.4%, p=.004). Within T2, individuals with a history of one or more pregnancy losses or failed implantation had comparable live birth and miscarriage rates to those with other reasons for undergoing a freeze-thaw cycle. Limitations, reasons for caution This single-center,","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"16 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"O-035 Prenatal exposure to parental smoking and infertility in sons and daughters: a cohort study","authors":"M Jørgensen Langergaard, A Ernst, S E Håberg, C Ramlau-Hansen","doi":"10.1093/humrep/deaf097.035","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.035","url":null,"abstract":"Study question Is prenatal exposure to parental smoking associated with an increased risk of infertility in adult sons and daughters? Summary answer Preliminary results indicated that prenatal exposure to parental smoking was not associated with an increased risk of infertility in adult sons and daughters. What is known already Intrauterine life seems to represent a particularly vulnerable period, predisposing individuals to diseases through exposure to harmful factors such as parental smoking. Parental smoking has been linked to higher risk of both short- and long-term reproductive outcomes including cryptorchidism, altered pubertal timing, reduced semen quality, miscarriages, and prolonged time-to-pregnancy in adult offspring. This study is the first to examine the potential association between prenatal exposure to parental smoking and infertility in offspring. The prevalence of infertility is notably high, making it an important outcome with major implications for both individuals and society. Study design, size, duration In this cohort study, we utilized data from the Healthy Habits for Two (HH42) birth cohort establish in 1984–1987 as part of a Danish health campaign. A total of 11,980 mothers participated (participation rate = 87%). Participants/materials, setting, methods The HH42 cohort includes 11,144 daughters and sons, representing the final study population. Mothers reported prenatal exposure to parental smoking around gestational week 36. Infertility among sons and daughters was assessed using ICD-10 codes for infertility and records of assisted reproductive technology (ART) usage, obtained from two registers. Associations were analyzed using Cox regression models, accounting for competing risks of infertility. To ensure comprehensive identification of male infertility, we included information on their female partners. Main results and the role of chance Preliminary results suggest that prenatal exposure to maternal smoking, paternal smoking, or parental smoking was not associated with a higher risk of infertility in adult sons and daughters. Adjusted hazard ratios for categorized maternal and paternal smoking, as well as dichotomized concomitant parental smoking, ranged from 0.6 to 1.3, with 95% confidence intervals overlapping 1, indicating results compatible with no association. Furthermore, no indications of dose-response relationships were observed. The analyses are not finalized, and results should be interpreted with caution. Final results will be presented at ESHRE 2025. In sub-analyses, we will restrict the study population to sons and daughters in a registered relationship, assuming that they are more likely to face potential fertility issues and thus be present in the registers. Furthermore, we will exclude sons and daughters who report voluntary childlessness, thereby limiting the analyses to individuals actively pursuing parenthood to enhance the precision of our outcome estimations. Additionally, we will investigate whe","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"70 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-452 Clinical impact of hyaluronic acid-based transfer medium on frozen–thawed embryo transfer outcome in recurrent implantation failure patients: a randomized controlled trial","authors":"K D Nayar, S Sanan, M Sachdeva, S Arora, G Kant, A Arora, A Singh, K Nayar","doi":"10.1093/humrep/deaf097.758","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.758","url":null,"abstract":"Study question Can Hyaluronic acid ( HA) -enriched transfer medium improve the outcome of frozen embryo transfer in women with recurrent implantation failure? Summary answer Hyaluronic acid-based embryo transfer medium significantly improves clinical pregnancy and implantation rates in recurrent implantation failure patients undergoing frozen-thawed embryo transfer. What is known already Recurrent implantation failure (RIF) is a significant challenge in about 10% of patients undergoing assisted reproduction,often influenced by interactions between the embryo and the endometrium,leading to unsuccessful outcomes. Standard embryo transfer media may not adequately support embryo implantation in these patients. Hyaluronic acid (HA) has been proposed as a potential additive to enhance implantation, as it is involved in cellular interactions. Some studies indicate that HA-enriched media may improve embryo attachment and implantation rates, but evidence on its efficacy in RIF patients undergoing frozen-thawed embryo transfer remains limited and inconclusive. Study design, size, duration A prospective randomized controlled trial was conducted at our tertiary IVF Centre from 1st January 2022 to 31st October 2024 to assess the effect of HA-enriched embryo transfer medium on outcomes in recurrent implantation failure (RIF) patients undergoing frozen-thawed embryo transfer (FET). A total of 150 women were randomly assigned to the HA group (n = 75) or the control group (n = 75). Primary outcome was clinical pregnancy while secondary outcome included implantation, miscarriage, and ongoing pregnancy rates. Participants/materials, setting, methods Participants were women under 37 years with normal ovarian reserve and a history of at least three failed fresh or frozen embryo transfers, involving four good-quality embryos across three cycles(RIF). Exclusion criteria included endocrine or uterine disorders, abnormal semen parameters, and use of donor oocytes. A total of 150 women were randomized into either the HA or control group. All underwent hormone replacement therapy (HRT) cycles with transfer of a single grade A thawed blastocyst. Main results and the role of chance Patients in the hyaluronic acid-enriched embryo transfer medium (HA) group showed a statistically significant increase in clinical pregnancy rates (an ultrasonic visualization of at least one gestional sac with or without cardiac activity) compared to the control group (42% vs. 28%, p = 0.035). Furthermore, the implantation rate was higher in the HA group (31% vs. 18%, p = 0.041). However, no significant difference was found in miscarriage rates (12% vs. 15%, p = 0.64) between the two groups. The ongoing pregnancy rate (Pregnancy continuing beyond 12th week ) showed a trend favoring the HA group, though this difference was not statistically significant (38% vs. 32%, p = 0.51). Statistical analysis was performed by the SPSS program for Windows version 25.0. Statistical tests applied according to th","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"35 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-030 Sperm samples with elevated double-strand DNA fragmentation demonstrate similar fertilization outcomes to low fragmentation when treated: a retrospective analysis of egg donor cycles with PGT-A","authors":"A Zavala, S Cortes, C Andrés, A Cayado, S Ruiz, J A Horcajadas, H Izquierdo, L Ortega","doi":"10.1093/humrep/deaf097.339","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.339","url":null,"abstract":"Study question Does the presence of high double-strand DNA fragmentation (≥60%) in sperm samples significantly compromise fertilization, blast formation, and overall euploidy rates in egg donation cycles? Summary answer In a retrospective analysis of 303 donor-oocyte cycles, increased sperm DNA double-strand fragmentation (≥60%) did not notably reduce fertilization, blastocyst formation, or euploid rate. What is known already Elevated DNA fragmentation in sperm has long been suggested to impair embryo quality and reduce reproductive outcomes. Double-strand (DS) DNA breaks, in particular, is believed to have a more deleterious effects than single-strand breaks on fertilization, blastocyst formation, and embryo ploidy. Prior studies suggest that higher DS fragmentation may increase aneuploidy rates or reduce implantation success. However, the clinical impact of moderate or even very high DS fragmentation remains debated. In many assisted reproduction laboratories, sperm selection techniques are implemented when DS fragmentation surpasses certain thresholds, yet robust prospective data remain scarce. Study design, size, duration This retrospective study examined 303 donor-oocyte cycles performed at a single fertility center between January/2022-December/2024. Sperm samples underwent DS fragmentation testing with the Comet assay and were classified into three groups: <60%, 60–69%, and ≥70%. Fertilization, blastocyst formation, and chromosomal status (assessed via PGT-a). The study aimed to determine whether high DS fragmentation had a negative impact on these outcomes compared with normal or moderately elevated fragmentation over the three-year retrospective period. Participants/materials, setting, methods Sperm-samples were prepared by swim-up or microfluidic-chip (CHIP-Fertile) if fragmentation ranged from 60–79%, and by SpermSlow selection if ≥ 80% or frozen semen sample. All oocytes originated from donors aged 18–35 years. Intracytoplasmic sperm injection (ICSI) was used for fertilization. Blastocysts were biopsied on Day 5-6 and analyzed via next-generation sequencing. Primary outcomes included fertilization yield (2PN/oocytes injected), blastocyst yield, and chromosome status (euploid/aneuploid/mosaic). Statistical comparisons were performed via ANOVA and linear models. Main results and the role of chance Among 303 cycles, 116 (62%) showed DS fragmentation <60%, 104 (23%) had 60–69%, and 83 (15%) had ≥70%. No significant differences were observed in total M2 oocytes or PN2 embryos across groups: mean (±SD) values were 7.23 ± 2.22, 7.19 ± 2.20, and 7.53 ± 2.34, respectively (p = 0.54). Total blastocyst numbers also remained comparable (5.75 ± 2.02, 5.57 ± 2.20, 5.88 ± 2.15; p = 0.59). Euploid outcomes showed no statistically significant variation: 3.03 ± 1,64 in < 60%, 2.85 ± 1.62 in 60–69%, and 3.28 ± 1.54 in ≥ 70% (p = 0.19). Linear regression modeling of euploid embryo proportions revealed no meaningful association with D","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"644 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-596 Preimplantation genetic testing without invasive embryo biopsy","authors":"A Janssen, V Verwilghen, M Drüsedau, F Snepvangers, J Derhaag, W Van Zelst-Stams, H Brunner, A Paulussen, E Coonen, M Zamani Esteki","doi":"10.1093/humrep/deaf097.902","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.902","url":null,"abstract":"Study question Can non-invasive preimplantation genetic testing (niPGT) using spent culture medium (SCM) accurately detect monogenic disorders and the meiotic/mitotic origin of aneuploidies? Summary answer Our approach enables concurrent genome-wide haplotyping and copy number profiling, enabling the detection of monogenic disorders and aneuploidies with the ability to distinguish meiotic/mitotic aberrations. What is known already Preimplantation genetic testing (PGT) is typically performed through invasive embryo biopsy to detect aneuploidies and monogenic disorders. SCM contains cell-free DNA, offering a non-invasive alternative for embryo testing. However, existing methods mainly focus on aneuploidy detection and fail to determine the meiotic or mitotic origin of chromosomal abnormalities, limiting clinical applicability. Distinguishing between these errors is crucial, as meiotic errors occur during gametogenesis and affect the entire embryo, whereas mitotic errors arise post-fertilization and lead to mosaicism. A non-invasive method capable of accurately detecting genetic disorders and aneuploidies while identifying their segregational origin would advance reproductive care. Study design, size, duration In an exploratory retrospective study, 90 SCM samples were analyzed from 53 blastocysts affected by monogenic disorders from 14 families enrolled in diagnostic PGT. SCM was obtained after embryo transfer to a biopsy dish to avoid interference. The study aimed to identify and develop the optimal experimental protocol and computational method for niPGT, respectively. The resulting haplotypes and copy number profiles were compared to invasive biopsy results. Participants/materials, setting, methods SCM samples from 53 blastocyst were split into halves, yielding 90 samples. Five whole-genome amplification protocols were tested to determine the best method for niPGT. Whole-genome sequencing was performed, followed by haplarithmisis-based haplotyping to reconstruct genome-wide haplotypes. Quality metrics, including allele drop-in, drop-out, and parental contamination, were assessed. Copy number profiles were generated, and results were compared to biopsy outcomes to evaluate diagnostic concordance, haplotype accuracy, and the ability to distinguish meiotic from mitotic aberrations. Main results and the role of chance Parallel genome-wide haplotyping and copy number profiling of cfDNA derived from SCM, enabled the identification of monogenic aberrations and aneuploidies. In 74 samples, the sex identified from SCM matched the biopsy results, while 16 showed mismatches, suggesting (maternal) contamination. High-quality embryos assessed with the optimal amplification method had a median haplotype concordance of 92.5% ([89.83-95.27], n = 15). Notably, all meiotic aberrations (n = 3) detected via biopsy were also observed in SCM, demonstrating niPGT’s ability to detect inherited chromosomal abnormalities. In contrast, mitotic aberrations were inconsistent","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"51 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-137 Validation of a novel artificial intelligence (AI) model assessing retrospective oocyte images to predict blastocyst PGT-A outcomes","authors":"Y Franco Iriarte, G Bescos, A Villa, F Sotos, N Setareh malekian, S Corsac, N Mercurie, J Fjeldstad, I Puerta vega, E Carrillo de labornoz, B Bueno, V Cabezuelo, A Rexarch, A Bermeko, A Vegas","doi":"10.1093/humrep/deaf097.446","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.446","url":null,"abstract":"Study question Can a non-invasive image analysis AI (Ploidy) model predict the likelihood that a mature oocyte will develop into a euploid blastocyst from previously unseen data? Summary answer The Ploidy AI model assesses oocyte images from an external Spanish dataset, predicting chromosomal ploidy status of the resulting blastocyst with an AUC of 0.68. What is known already Embryo chromosomal integrity is crucial to implantation and IVF success. PGT-A testing has been adopted to assess the genetic status of embryos and aid in blastocyst selection for transfer. However, high costs, invasiveness, and technical challenges introduce barriers for patient access. Most embryonic chromosomal abnormalities originate from maternal meiotic errors, making oocyte assessment a crucial opportunity to gain early genetic insights. However, non-invasive methods to evaluate the impact of oocyte quality on embryonic genetic integrity remain unavailable. Here, we validate the performance of a non-invasive, AI-powered oocyte assessment tool in predicting blastocyst ploidy (euploid/aneuploid) outcomes from the mature oocyte stage. Study design, size, duration Images of 925 mature oocytes (153 patients, 30-48 years old) undergoing IVF-ICSI at a Spanish clinic using GERI time-lapse incubators were retrospectively analyzed by the Ploidy AI model to predict the probability (0-100%) of each oocyte developing into a euploid blastocyst. Within the dataset, 418 oocytes did not develop into a blastocyst, whereas 507 oocytes developed into a blastocyst (235 aneuploid, 149 euploid, 26 mosaics, 97 untested). Mosaic and untested blastocysts were excluded. Participants/materials, setting, methods The euploidy-prediction probabilities generated by the Ploidy AI model for each oocyte were analyzed for model performance in predicting true outcomes by Area-under-the-curve (AUC), positive predictive value (PPV), and negative predictive value (NPV). Correlations of the probabilities with key clinical parameters, including PGT-A outcomes of the resulting blastocysts, blastocyst morphology, and patient age, were also assessed by Welch’s t-test, One-Way Analysis of Variance (ANOVA) with post-hoc pairwise comparisons, or Two Proportions z-test. Main results and the role of chance All oocyte cohorts included had at least one oocyte that developed into an aneuploid or euploid blastocyst. The oocytes that did not develop into blastocysts(n = 418) or those that became aneuploid blastocysts(n = 235) were considered as a negative outcome, whereas those that became euploid blastocysts were the positive outcome(n = 149) when assessing the performance of the model. The Ploidy AI model displayed AUC=0.68, sensitivity=0.46, specificity=0.76, PPV=0.3, and NPV=0.86. Oocytes that developed into euploid blastocysts had significantly higher mean euploidy-predicted-probabilities than those that developed into aneuploid blastocysts (25% vs. 20%; p < 0.0001). This significant difference persisted for p","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"4 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144513159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-464 A decrease of the zone of favorable implantation in certain forms of the uterine cavity as a cause of implantation failure in embryo transfer programs","authors":"I Sudoma, L Tepliuk, O Solovyov","doi":"10.1093/humrep/deaf097.770","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.770","url":null,"abstract":"Study question To determine the influence of the shape of the uterus and the volume of the favorable implantation zone (Z) on the effectiveness of embryo transfer. Summary answer The reason for implantation failure may be a decrease of favorable zone of implantation which needs more objective and measurable criteria What is known already The uterine cavity abnormalities could be the cause of reproductive disorders, including failure of embryo implantation in ART programs. At the same time, there is no consensus regarding the negative impact of minor changes of the uterine cavity on the embryo transfer success. If the uterus has a small notch in the bottom and slight thickening of the side walls, it can fall into the normal category. But the space in the centre of the uterine cavity with the thickest endometrium, which we call favorable implantation zone will be reduced in these cases. Study design, size, duration We retrospectively analyzed the results of transfers of genetically tested embryos between March 2018 and March 2024 in patients with preserved coronary 3D images of the uterine cavity. Participants/materials, setting, methods The 3D images of uterine cavity were obtained on the day of embryo transfer in 2184 cycles. We divided all cases depending on the volume of Z. The volume of Z was calculated automatically, taking into account the height and the width of the zone and the thickness of the endometrium. Main results and the role of chance In the first group (Z volume > 15 mm3) there were 1134 transfers, pregnancy rate (PR) was 64%, live birth rate (LBR) - 52%, in the second group (Z volume 10.1-14.9 mm3) there were 960 transfers with PR - 34% and LBR - 29%, in the third group (Z volume ˂ 10 mm3) there were only 90 transfers, PR - 13.3%, LBR - 2.2%. The difference between the groups was statistically significant. The last group had the highest percentage of early pregnancy losses (10 out of 12 pregnancies). The part of the patients with an endometrium less than 8 mm in the third group was also the largest. Limitations, reasons for caution Our data were recieved in retrospective study. The results need confirmation by prospective one. Wider implications of the findings Potential possibility to influence implantation rate in the group of patients with decreased favorable implantation zone. Trial registration number No","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"48 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-566 The first use of high resolution PGT-A in a large clinical cohort to detect nine common microdeletion and microduplication syndromes","authors":"C Weier","doi":"10.1093/humrep/deaf097.872","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.872","url":null,"abstract":"Study question Can microdeletion and microduplication syndromes be accurately detected during PGT-A, and if so, what may be the expected prevalence in preimplantation embryos? Summary answer A modified PGT-A method leveraging high density SNP analysis can detect microdeletions/duplications and their prevalence may be higher than previously reported. What is known already Recurrent microdeletion/microduplication (del/dup) syndromes represent a group of conserved phenotypes involving intellectual disability, developmental delay and physical dysmorphia that are tightly associated with specific segmental gains and losses. Approximately 200 del/dup syndromes have been characterized with a collective occurrence of 1/1000 to 1/200 live births. While data suggests that embryonic prevalence may be higher, segmental copy number variation <5 megabases is difficult to accurately detect with most PGT-A technologies. Poor resolution often translates to low sensitivity and specificity with high false positive rates. There are currently no preimplantation del/dup screening tests, leaving patients at risk of transferring an affected embryo. Study design, size, duration The primary objective of this study was to evaluate performance of a PGT-A platform incorporating detection of nine del/dup disorders (based on occurrence and severity). A preliminary group of 300 samples with confirmed del/dup disorders was analyzed to determine SNP density and resolution and estimate sensitivity and specificity. A second cohort of 3000 de-identified preimplantation embryos was used to assess the baseline detection rate. A larger retrospective study of 25,000 preimplantation embryos will be reported. Participants/materials, setting, methods Cell lines and de-identified trophectoderm biopsies were used to develop, verify, and test the detection method. Samples were processed using primary template-directed amplification (PTA), prepared for next-generation sequencing and enriched for selected SNP data. A bioinformatics pipeline was applied to identify genome-wide and del/dup region-specific aneuploidy through a combination of copy number variation and allelic balance analysis. Orthogonal testing was used to confirm the presence of a del/dup when feasible. Main results and the role of chance PGT-A results displayed 98% concordance to standard outcomes with short segmental or mosaic differences near del/dup regions accounting for most discrepancies. Sequencing data indicated that the del/dup-enabled PGT-A pipeline generated, on average, 42-205 quality-filtered SNPs per megabase across the nine target regions, resulting in a reporting rate of 96-99% and a del/dup resolution down to 1 mb. In the control group, an initial accuracy estimate for del/dup-specific detection was 97-99% with sensitivity and specificity ranging from 82-96% and 92-99%, respectively. Occurrence rates in the limited clinical cohort varied between 1-2x the reported live birth prevalence. A larger preimplanta","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"2 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-522 Dyadic Emotion Dysregulation and Infertility Stress in a sample of infertile women and men: an exploratory study","authors":"C Tacchino, T Cocchiaro, A Dal Lago, R Rago, P Velotti","doi":"10.1093/humrep/deaf097.828","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.828","url":null,"abstract":"Study question The primary objective of the study is to explore the role of dyadic emotion dysregulation in the perception of infertility-related stress. Summary answer The primary result concerns the distinctive role of the lack of awareness regarding partners' emotions in predicting infertility-stress levels in the relational and social domains. What is known already Infertility represents a significant cause of stress for couples and medically assisted procreation procedures expose to the risk of failure; indeed, the primary reason for stopping treatment following negative results is the emotional burden linked to these outcomes (Bergh et al., 2004). Research showed that individual emotion dysregulation is linked to higher levels of psychological distress in infertile women (Hahn et al., 2021; Hoyle et al., 2022), while the recently conceptualized construct of dyadic emotion dysregulation remains unexplored, despite evidence that emotional closeness between partners contributes to better couple functioning in coping with this condition (Kiełek-Rataj et al., 2020). Study design, size, duration The study design is cross-sectional. A total of 139 individuals, with an average age of 38.42 years (SD 5.06), were recruited, specifically 60 men and 79 women, from a public medically assisted reproduction center, at the beginning of infertility treatments. Participants were enrolled between April 2022 and December 2023. Completing the two administered self-report instruments and the socio-demographic form took approximately 15 minutes for each participant. Participants/materials, setting, methods Participants completed two questionnaires via the EuSurvey platform: the Difficulties in Emotion Regulation Scale–Dyadic (Faccini et al., 2023) for dyadic emotion dysregulation and the Fertility Problem Inventory-Short Form (Zurlo et al., 2017) for infertility-related distress. After descriptive and preliminary analyses on instruments’ reliability, partial correlations explored associations between variables. Regression analyses, controlling for gender and age, examined the predictive role of dyadic emotional awareness and clarity on relationship and social concerns related to infertility. Main results and the role of chance Correlational analyses revealed a significant association between the dimensions of dyadic emotion dysregulation and infertility-stress levels. More specifically, both the lack of awareness and the lack of clarity regarding each other’s emotions in the couple were linked to higher relationship (r = 0.394, p < 0.001; r = 0.340, p < 0.001) and social concerns (r = 0.414, p < 0.001; r = 0.367, p < 0.001) and to lower levels in the subscale referring to the rejection of a childfree lifestyle (r= -0.189, p = 0.027; r= -0.186, p = 0.029). No significant relationships emerged with the FPI-SF dimension describing the need for parenthood. Overall infertility-stress levels were positively associated with the lack of dyadic","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"48 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P-404 Trends in Oocyte Vitrification: Patient Demographics and Outcomes from 2015 to 2023","authors":"Á Llaneza, A Bullido, C Andrés, S Cortés, L Serrano, J A Horcajadas","doi":"10.1093/humrep/deaf097.710","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.710","url":null,"abstract":"Study question How have the demographics and clinical outcomes of patients undergoing oocyte vitrification evolved over the period 2015-2023? Summary answer Oocyte vitrification has increased, with more foreign patients, decreasing mean age, and more vitrified oocytes. Warming rates remain low, and survival correlates with ovarian reserve. What is known already Oocyte vitrification is a widely used fertility preservation strategy. Age and ovarian reserve markers impact success, but long-term trends remain underexplored. Understanding demographic and clinical shifts, including nationality trends, survival rates, and warming rates, is essential for refining fertility preservation strategies and patient counseling. Study design, size, duration A retrospective cohort study including 936 patients who underwent oocyte vitrification between 2015-2023 at a single fertility center. Trends in patient demographics, ovarian reserve, survival rates, and vitrification outcomes were analyzed using linear regression models. Participants/materials, setting, methods Patients undergoing vitrification were included. Data analyzed: nationality, age, AMH, AFC, vitrified/warmed oocytes, and survival rates. Statistical tests identified trends and associations in survival and warming rates. Main results and the role of chance Patient numbers increased from 35 (2015) to 306 (2023). Mean age declined (-0.30 years/year, p = 0.007), with an overall mean of 36.4 years (2015-2023). AMH remained stable (2.33 ng/mL in 2015 vs. 2.01 ng/mL in 2023, p = 0.840). Vitrified oocytes rose (248 in 2015 vs. 910 in 2023, p = 0.002). Oocyte survival rates were negatively correlated with age (-0.81, p < 0.01) and positively with AMH (0.89) and AFC (0.99). In the available data, the mean oocyte survival rate for the 37-40 age group was 63.9%, while insufficient data were available for other age groups. As to warming rates 45.7% of 2015 patients underwent warming, compared to 5.6% from 2023. Limitations, reasons for caution Single-center data limits generalizability. External factors such as policy changes and economic shifts may influence trends. Limited survival rate data for specific age groups restricts definitive conclusions on age-related trends. Wider implications of the findings Decreasing patient age highlights evolving fertility awareness. The increasing international patient demand underscores the importance of accessible reproductive care policies. The association between ovarian reserve markers and survival rates can enhance fertility preservation counseling. Trial registration number No","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"53 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}