Human reproduction最新文献

{"title":"Evaluation of methodological and analytical approaches in assessing intra-individual serum progesterone variability on frozen embryo transfer day across hormone replacement therapy cycles.","authors":"Onur Ince, Gonca Ozten Dere, Ali Can Gunes","doi":"10.1093/humrep/deaf088","DOIUrl":"10.1093/humrep/deaf088","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"1381-1382"},"PeriodicalIF":6.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173730","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":"CCDC89 is required for optimal sperm motility and male fertility in mammals","authors":"Moira K O’Bryan, Gülizar Saritas, Joseph Nguyen, Sofia B Winge, Anne E O’Connor, Helen Castillo-Madeen, Donald F Conrad, Maddison Graffeo, Reza Nosrati, Jessica E M Dunleavy, Kristian Almstrup, Brendan J Houston","doi":"10.1093/humrep/deaf126","DOIUrl":"https://doi.org/10.1093/humrep/deaf126","url":null,"abstract":"STUDY QUESTION What is the role of coiled-coil domain-containing protein 89 (CCDC89) in mammalian male fertility? SUMMARY ANSWER The presence of CCDC89 is required for normal sperm motility and therefore optimal male fertility in mice, while CCDC89 variants affected spermatogenesis in both mice and humans. WHAT IS KNOWN ALREADY Coiled-coiled domain-containing proteins play a variety of roles in biological processes, including cell division, the production of motile sperm, and the regulation of their motility. STUDY DESIGN, SIZE, DURATION DNA from infertile men with azoospermia was sequenced to identify genetic variants as per the Genetics of Male Infertility Initiative (GEMINI) study. Genetic variants were identified in CCDC89 in three men, by whole exome sequencing. A testis biopsy from infertile Patient 1 (CCDC89 variant c. G903T) was available and used to inspect tissue pathology. Ccdc89 knockout (Ccdc89−/−) and Ccdc89E297D/E297D mutant mouse models were generated to define the role of CCDC89 in male fertility and the role of the specific CCDC89 genetic variant, c. G903T, in the pathogenesis of infertility. PARTICIPANTS/MATERIALS, SETTING, METHODS CCDC89 RNA expression and protein localization were investigated in a testis biopsy from a control male with normal spermatogenesis. Male fertility of the mutant mouse lines was assessed via breeding, histology, daily sperm production, electron microscopy, computer-assisted and high-speed sperm motility analysis, and in vitro fertilization. MAIN RESULTS AND THE ROLE OF CHANCE Ccdc89−/− male mice were sub-fertile, with impaired progressive sperm motility and curvilinear velocity due to a rigid sperm tail midpiece without any overt structural defects. While Ccdc89E297D/E297D males were fertile, their testis weights and germ cell content were reduced, suggesting a potential role of the c. G903T variant, observed in each of the two men, in the pathogenesis of their spermatogenic impairment. We also identified a new genetic variant in CCDC89 (c.G1024A) in another infertile man, that was in trans with the c. G903T genetic variant. LARGE SCALE DATA N/A. LIMITATIONS, REASONS FOR CAUTION The identification of additional infertile men with genetic variants in CCDC89, and quality clinical data, are required to determine prognostic reliability regarding CCDC89 variants. There are likely to be species-specific differences in gene function. WIDER IMPLICATIONS OF THE FINDINGS Our data highlight a role for CCDC89, in regulating the sperm tail waveform, that is required for optimal sperm fertilization capacity and male fertility. We highlight CCDC89 as a regulator of male fertility in mammals, where variants in CCDC89 can affect spermatogenesis and may be a risk factor for human male infertility. This study underscores the importance of validating clinical genetic findings. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by a National Health and Medical Research Council grant (APP1120356), National Instit","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"2 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144533112","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":"Reply: Evaluation of methodological and analytical approaches in assessing intra-individual serum progesterone variability on frozen embryo transfer day across hormone replacement therapy cycles.","authors":"M Bourdon, C Maignien, C Patrat, J Guibourdenche, C Chapron, P Santulli","doi":"10.1093/humrep/deaf089","DOIUrl":"10.1093/humrep/deaf089","url":null,"abstract":"","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"1383-1384"},"PeriodicalIF":6.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173734","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":"Exploring positive and negative body image and health-related quality of life in women with endometriosis: a latent profile analysis","authors":"Sara Iannattone, Martina Rapisarda, Gioia Bottesi, Silvia Cerea","doi":"10.1093/humrep/deaf127","DOIUrl":"https://doi.org/10.1093/humrep/deaf127","url":null,"abstract":"STUDY QUESTION What are the profiles of body image (both negative and positive) and their associations with health-related quality of life (HRQoL) and endometriosis-related symptoms in women with endometriosis? SUMMARY ANSWER Three distinct body image profiles were identified, which significantly differed in HRQoL dimensions and both number and types of endometriosis-related symptoms. WHAT IS KNOWN ALREADY Endometriosis is a chronic health condition characterized by multiple symptoms, which lead to a diminished HRQoL. Body image is a critical concern for women with endometriosis due to the impact of the illness and its treatments on their bodies. STUDY DESIGN, SIZE, DURATION This cross-sectional study involved 270 Italian women who self-reported a diagnosis of endometriosis. They were recruited through the social media pages of Italian endometriosis organizations between March and September 2023. PARTICIPANTS/MATERIALS, SETTING, METHODS The mean age of the participants was 36.4 years (SD = 7.46, range = 18–56), while the mean time since diagnosis was 347 months (SD = 80). The main endometriosis diagnosis was deep endometriosis (58.1%), and the main method of diagnosis was a clinical method (70.7%). The participants completed a socio-demographic and medical history schedule, as well as the following self-report questionnaires: Functionality Appreciation Scale, Body Appreciation Scale-2, Endometriosis Health Profile-30, and Body Image Scale. Latent Profile Analysis (LPA), ANOVA, and chi-square tests were employed to analyze the data. In particular, given the data-driven nature of LPA, no a priori hypotheses were formulated regarding the number or pattern of the profiles. MAIN RESULTS AND THE ROLE OF CHANCE The LPA revealed three profiles: ‘Low body appreciation and strong body dissatisfaction’ (47.8%), ‘Strong body appreciation and low body dissatisfaction’ (17%), and ‘Moderate body appreciation and body dissatisfaction’ (35.2%). ANOVA showed differences in all HRQoL dimensions and number of endometriosis-related symptoms among profiles, with women in the ‘Strong body appreciation and low body dissatisfaction’ profile exhibiting better HRQoL and fewer endometriosis-related symptoms compared to the other profiles (P<0.001). Finally, chi-square tests revealed that participants in the ‘Low body appreciation and strong body dissatisfaction’ profile were significantly more likely to report painful and a-specific symptoms compared to participants in the other profiles. LIMITATIONS, REASONS FOR CAUTION The study’s cross-sectional design precludes any conclusions about causality. Furthermore, the absence of a control group of women without endometriosis makes it unclear whether the identified body image profiles are specific to endometriosis or represent broader patterns in the general population. Also, since LPA is inherently exploratory, these results offer only preliminary insights into how negative and positive body image may interact and relate","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"15 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144533063","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":"Pregnancy outcomes with increasing maternal age, greater than 40 years, in donor oocyte cycles.","authors":"Riwa Sabbagh, Alison Meyers, Ann Korkidakis, Quetrell Heyward, Alan Penzias, Denny Sakkas, Denis Vaughan, Thomas Toth","doi":"10.1093/humrep/deaf044","DOIUrl":"10.1093/humrep/deaf044","url":null,"abstract":"<p><strong>Study question: </strong>Do IVF outcomes differ in patients over the age of 40 using donor oocytes?</p><p><strong>Summary answer: </strong>Even with the use of donor oocytes, maternal age appears to have an impact on live birth (LB) rate and perinatal outcomes.</p><p><strong>What is known already: </strong>Maternal age has a significant impact on the outcome of IVF, mainly attributed to age-related oocyte chromosomal factors.</p><p><strong>Study design, size, duration: </strong>This was a retrospective cohort study between 1 January 2015 and 31 December 2021.</p><p><strong>Participants/materials, setting, methods: </strong>This study included all patients who had a single embryo transfer cycle using donor oocytes during the study period. The study was conducted at a single university-affiliated fertility center. Data on BMI, paternal age, and type of cycle (natural vs programmed) were evaluated in relation to miscarriages and LBs when comparing age groups of 40-44, 45-49, and ≥50. Generalized estimating equation (GEE) models with logit functions were used to control for confounding variables.</p><p><strong>Main results and the role of chance: </strong>A total of 1660 single embryo transfer cycles using donor oocytes in patients ≥40 years were performed during the study period. Of these, 969 were in patients aged 40-44, 607 in patients 45-49, and 84 in patients ≥50 years of age. The presence of an LB was significantly lower in patients 45-49 compared to those 40-44 (P = 0.023). The LB rate remained lower in patients >50 but was not statistically significant. This relationship persisted after adjusting for BMI, paternal age, cycle type, and type of oocyte donor (fresh vs frozen oocyte donor) (P = 0.016). Moreover, the birthweight was lower in the older age groups (45-49 and ≥50) compared to the reference group of patients aged 40-44 (P = 0.004).</p><p><strong>Limitations, reasons for caution: </strong>The presence of an LB was lower in patients aged 45-49 and ≥50 compared to 40-44; however, this finding was not statistically significant for the ≥50 age group, likely due to the smaller sample size compared to the other two age groups. The use of preimplantation genetic testing for aneuploidy (PGT-A) was not included since only a minority of patients using donor oocytes underwent PGT-A. The inclusion of both fresh and frozen donor oocytes may also be deemed a limitation, as some studies have indicated better outcomes from fresh compared to frozen donor oocytes.</p><p><strong>Wider implications of the findings: </strong>Maternal age, beyond its relation to oocyte quality, was shown to affect the achievement of an LB. This is an important finding to include in patient counseling, particularly for those proceeding with donor oocytes.</p><p><strong>Study funding/competing interest(s): </strong>No authors report conflicts of interest or disclosures. There was no study funding.</p><p><strong>Trial registration number: </strong>N/A.</p>","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":" ","pages":"1325-1331"},"PeriodicalIF":6.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669135","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":"Incidence and risk factors of monozygotic twinning following ART: analysis of 154 671 live births resulting from single embryo transfer.","authors":"Repon C Paul,Christos A Venetis,Oisin Fitzgerald,Georgina M Chambers","doi":"10.1093/humrep/deaf121","DOIUrl":"https://doi.org/10.1093/humrep/deaf121","url":null,"abstract":"STUDY QUESTIONWhat is the incidence of and risk factors for monozygotic twinning (MZT) following single embryo transfer (SET) in ART cycles in Australia and New Zealand?SUMMARY ANSWERMZT occurred in 1.5% of live births following SET, with blastocyst transfer and fresh embryo transfer identified as key risk factors, while vitrified-thaw transfers were associated with a lower MZT risk.WHAT IS KNOWN ALREADYART has been associated with a higher incidence of MZT compared to natural conception. Previous studies have suggested younger maternal age, blastocyst culture, fresh embryo transfer, and certain ART techniques, such as assisted hatching and preimplantation genetic testing may elevate MZT risk. However, findings have been inconsistent, and with many prior studies underpowered and few reflecting contemporary ART practices.STUDY DESIGN, SIZE, DURATIONThis retrospective cohort study analyzed data from 590 441 SET cycles conducted between 2009 and 2021 in Australia and New Zealand. The analysis included 154 671 live births following autologous SET cycles recorded in the Australian and New Zealand Assisted Reproductive Technology Database (ANZARD).PARTICIPANTS/MATERIALS, SETTING, METHODSThe study focused on autologous fresh and thawed SET cycles. MZT incidence was estimated by applying Weinberg's differential rule, which assumes a 1:1 ratio of sex-concordant and sex-discordant dizygotic twins in the population of twins born following SET cycles. A multivariable logistic regression model with generalized estimating equations was used to identify risk factors for MZT, adjusting for potential misclassification of zygosity due to the absence of DNA confirmation.MAIN RESULTS AND THE ROLE OF CHANCEThe MZT rate was 1.5% among live births following SET. Blastocyst transfer was associated with a nearly 2-fold increase in MZT risk compared to cleavage-stage transfer (adjusted odds ratio [aOR] = 1.99, 95% CI: 1.71-2.31), and vitrified-thaw transfers had a lower MZT risk than fresh transfers (aOR = 0.87, 95% CI: 0.79-0.95). Sensitivity analyses supported these findings, with consistent MZT risk patterns across subgroups by maternal age, fertilization technique, and embryo transfer type (fresh/frozen).LIMITATIONS, REASONS FOR CAUTIONZygosity estimation was based on Weinberg's differential rule rather than DNA testing, which could lead to some misclassification. Additionally, the study lacked data on embryo quality, a variable with potential influence on MZT risk, and was limited to a retrospective design, potentially introducing treatment and information biases.WIDER IMPLICATIONS OF THE FINDINGSThis large-scale study identifies blastocyst transfer and fresh embryo transfer as significant MZT risk factor in ART, with potential implications for patient counseling and obstetric care. Future research should further investigate the mechanisms underlying these associations.STUDY FUNDING/COMPETING INTEREST(S)Funding was received from the Ferring Pharmaceuticals Pty Ltd as","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"51 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144521398","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-556 Structural rearrangements in parental karyotypes and their impact on embryo competence. Analysis of 290 PGT-SR cycles","authors":"J Pla Victori, D Cimadomo, O Osetti, P Petrone, V Vergara, M Cruz, J Reina, C Marín, E Fernandez, S Caroselli, L Picchetta, L Rienzi, F M Ubaldi, A Capalbo, A Vaiarelli","doi":"10.1093/humrep/deaf097.862","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.862","url":null,"abstract":"Study question What is the impact of structural rearrangements (SR) in parental karyotypes on blastocyst development and aneuploidy-rates? Summary answer SRs (especially reciprocal-translocations) worsen blastulation-rate throughout maternal age. Among couples with ≥1 blastocyst, baseline aneuploidy-rate is 60% (&amp;lt;35 years) further increasing due to advanced-maternal-age. What is known already Balanced SR carriers face increased risk of infertility, recurrent miscarriages, and offspring with birth defects due to unbalanced embryos being formed. PGT-SR helps mitigate these risks by allowing the identification and selection of euploid and balanced embryos. Prior studies have estimated the prevalence of unbalanced derivatives on sperm samples and transferrable embryo rate after PGT-SR, even for each SR subtype. However, many published studies on PGT-SR results are limited by small sample size. Moreover, the potential interchromosomal effect of SRs on aneuploidy remains debated. Furthermore, the exact effect of SRs on blastocyst development and aneuploidy rate remain greatly unexplored. Study design, size, duration Retrospective observational cohort study including 290 PGT-SR cycles (Robertsonian-translocations: N = 39 maternal, N = 54 paternal; Reciprocal-translocations: N = 61 maternal, N = 55, paternal; Inversion/deletions/duplications: N = 33 maternal, N = 48 paternal) conducted at a private IVF clinic (years 2014-2023). We analyzed the impact of SR type and carriers’ sex (adjusted for confounders in generalized-estimating-equations) on blastulation-rate per MII-oocytes, aneuploidy-rates per biopsied blastocysts and outcomes per cycle (≥1 blastocyst obtained and ≥1 live-birth achieved among concluded attempts [= cumulative-live-birth rate, cLBR]). Participants/materials, setting, methods 290 cycles conducted by 170 couples (Age:36.2±4.7 years, BMI:22.1±3.7 Kg/m2, AMH:2.1±1.4 ng/ml, 71% nulligravida, sperm concentration:12±13 millions/ml, sperm A+B-motility:46%±19%, sperm normal morphology:4±3%) retrieving 2958 cumulus-oocyte-complexes. GnRH-antagonist protocols were always adopted. In 96% and 98% of cycles fresh own-oocytes and ejaculated-sperm were used, respectively. We conducted ICSI (N = 2115 MII-oocytes), single blastocyst culture, trophectoderm biopsy without day3 zona-pellucida drilling, comprehensive chromosome testing (N = 751 blastocysts), and vitrified-warmed single euploid transfer (N = 168). Main results and the role of chance Couples carrying paternal-SRs versus maternal-SRs were older with poorer sperm parameters, regardless SR-type. Median oocyte maturation-rate among maternal-SR carriers was 75% versus 78% among women with normal karyotypes (p=NS). The blastulation-rate among PGT-SR cycles was consistently lower than our historical control of couples with normal karyotypes, throughout maternal age and regardless of sperm parameters. Reciprocal-translocations exacerbated this trend, independently of SR-carriers’ sex, further","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"27 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503431","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-212 A comparison of multi-step versus single-step thawing protocols for vitrified blastocysts using thawing solution or culture media","authors":"T M T Luu, T K A Phan, T C Tran, N Q Le, H A Le, D T Pham, G B Huynh, M T Ho, T N L Vuong","doi":"10.1093/humrep/deaf097.521","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.521","url":null,"abstract":"Study question Does one-step warming (OW) using thawing solution (TS) or culture media (CM) impact the survival rate of vitrified blastocysts compared to standard multi-step warming (SW)? Summary answer One-step warming using a thawing solution or culture medium is comparable to the multi-step warming protocol. Further clinical evidence is required to prove these findings. What is known already The multi-step warming protocol, which involves reducing non-permeable cryoprotectant concentrations, aims to mitigate osmotic shock caused by the rapid influx of water. Recent studies have shown that a simplified warming protocol using only thawing solution or culture media, yields comparable survival rates while increasing pregnancy rates and reducing the workload of embryologists. Study design, size, duration A total of 128 donated vitrified blastocysts, encompassing both good-quality and poor-quality blastocysts, were randomly allocated into three groups: 44 for TS protocol using Warm 1 Blast of RapidWarm Blast kit (VitroLife), 42 for the CM protocol using Sage one-step with HSA (Origio) and 42 blastocysts for the SW protocol using Cryotec RtU (Cryotech). The primary outcome was the survival rate of vitrified blastocyst post-warming. Secondary outcomes included full re-expansion rate, hatching and hatched rate. Participants/materials, setting, methods The study was conducted at a tertiary IVF center. In the TS and CM protocols, blastocysts were rinsed in thawing solution for 2 minutes and culture media for 1 minute, respectively. The SW protocol required 6.5 minutes. Post-warming blastocysts were cultured in a timelapse incubator and their survival rate was assessed based on the presence of blastocoel re-expansion after 2, 4, and 24 hours. Additionally, rates of full re-expansion, hatching, and hatched blastocyst were calculated. Main results and the role of chance The survival rates of vitrified blastocyst warmed using the TS and CM protocols were 97.73% (n = 43) and 97.62% (n = 41), respectively, which were comparable to the 100% survival rate (n = 42) observed in the SW control group. Timelapse monitoring indicated that the revived blastocysts were capable of re-expansion, similar to conventional vitrified-warming method. The hatching and hatched rates after 24 hours were highest in the SW group, but similar between TS and SW groups, as well as between the TS and CM groups. However, these rates were significantly lower at 2, 4, and 24 hours when comparing the CM group (7.14%, 19.05%, and 50% respectively) to the SW group (35.71%, 54.76%, and 76.19% respectively) (all p &amp;lt; 0.05). Similarly, blastocysts warmed by the SW protocol had the shortest time to full re-expansion, with a median time of 108.00 minutes [51.00; 164.25]. In contrast, the time was significantly longer in the CM group with a median time of 153.00 minutes [107.25; 295.50] (p = 0.024). The time for blastocyst recovery tended to be longer in the CM group compared to the other two","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"45 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503433","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-102 The utility of human two plus one small pronucleated zygotes (2.1pn) based on clinical outcomes and novel ploidy analysis","authors":"H Hattori, N Okuyama, K Ashikawa, Y Sakuraba, H Igarashi, K Kyono","doi":"10.1093/humrep/deaf097.102","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.102","url":null,"abstract":"Study question Are human embryos arising from two plus one small pronucleated zygotes, referred to as 2.1 pronuclei (PN), clinically useful? Summary answer Five healthy babies were born from vitrified-warmed 2.1PN blastocysts. In ploidy analysis, most of the 2.1PN were biparental diploid, indicating clinical usability. What is known already Embryos identified as 2.1PN, which have two normal-sized PN with one additional small pronucleus, unlike 3PN embryos, are considered a type of atypical pronuclear zygote. Their clinical usefulness has been discussed, but the number of subjects in each study has been small and their characteristics are still unknown. Study design, size, duration This study includes a retrospective embryo cohort study and a prospective experimental study. In a total of 490 cycles, 2,231 2PN zygotes and 514 2.1PN zygotes were obtained between August 2018 and July 2024. Twenty-seven 2.1PN-derived blastocysts, which were—at the patient’s request—discarded and donated for research, were subjected to biopsy and ploidy analysis as a prospective experimental study. Participants/materials, setting, methods 2.1PN was defined as two normal-sized PN with one additional small pronucleus no larger than half the normal size and with only one nucleolus precursor body. We compared the embryo development rates and clinical results between 2PN and 2.1PN embryos in the sibling embryo study. For ploidy analysis, we analyzed all chromosomes by a multiplex polymerase chain reaction–based target sequence method. The reference allele and alternative allele of each single-nucleotide polymorphism were counted. Main results and the role of chance Of the 514 2.1PN embryos, the average diameter of two normal-sized PN in 2.1PN embryos was 24.4±3.6µm, which was significantly smaller than 25.3±2.9µm in 2PN embryos (P &amp;lt; 0.05). The average diameter of small PN in 2.1PN embryos was 10.8±2.6µm. Evaluation of the embryonic development of 2.1PN embryos showed the blastocyst development rate was 35.3% (176/499), which was significantly lower than the 55.3% (1195/2162) of 2PN embryos (P &amp;lt; 0.05). Furthermore, the good blastocyst rate (ICM and TE grade 1 or 2) for 2.1PN embryos was 18.4% (92/499), significantly lower than the 29.0% (626/2162) for 2PN embryos (P &amp;lt; 0.05). Comparison of the clinical results of frozen-thawed blastocyst transfer showed the clinical pregnancy rate was 22.6% (7/31), which was significantly lower than the 46.4% (209/450) of 2PN embryos (P &amp;lt; 0.05). No congenital anomalies were found in the five babies derived from 2.1PN embryos. In the results of the ploidy analysis, 96.1% (25/26) of the analyzed 2.1PN embryos were diploid, while one embryo (3.8%, 1/26) was triploid. One embryo could not be analyzed. The diameter of the small PN of the triploid embryo was 15.0 µm, which was larger than the average for diploid embryos (9.8±1.8 µm). Limitations, reasons for caution The number of 2.1PN embryos used for embryo transfer an","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"643 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503486","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-567 Cycle outcomes using Haploseek combining PGT-M and PGT-A compared to PGT-M only in patients tested for monogenic diseases","authors":"M Youngster, N Sharon, I Granot, A Kedem, E Aizenman Fridman, P Renbaum, D Zeevi, M Baum, G Altarescu, E Maman, A Hourvitz","doi":"10.1093/humrep/deaf097.873","DOIUrl":"https://doi.org/10.1093/humrep/deaf097.873","url":null,"abstract":"Study question Is there a difference in cycle outcomes when embryos are tested solely for monogenic diseases (PGT-M) or a combination of PGT-M and chromosomal abnormalities (PGT-A)? Summary answer The Haploseek combining PGT-M &amp; PGT-A resulted in higher pregnancy rates per transfer with no difference in cumulative live birth rates (CLBR). What is known already The goal of PGT-M in patients with monogenic diseases is to avoid pregnancy with an affected embryo. Combining testing for chromosomal abnormalities (PGT-A) provides the chance to shorten time to pregnancy (TTP) and reduce miscarriage rates, while avoiding additional invasive procedures and added costs. However, concerns have been raised that healthy embryos may be excluded due to mis-diagnostic results thus affecting CLBR. The Haploseek is a low-cost, user-friendly, and accurate, next-generation sequencing-based, validated method, for single-cell gene variant detection combined with comprehensive chromosome screening in a 24-hour workflow protocol. Study design, size, duration A retrospective single-center cohort-study (2021-2023) including patients≤42 years, undergoing IVF for a single monogenic disease, having at least one available blastocyst for biopsy. The study group underwent Haploseek testing, combining PGT-A and PGT-M. Patients in the control group underwent PGT-M using Short Tandem Repeat linkage only. Genetics and clinical outcomes were calculated. Participants/materials, setting, methods Analysis was performed following stratification into three groups: 1. Per retrieval–all retrieval cycles, with a main outcome of number of embryos per transfer. 2. Per Embryo transfer–all transfers, with pregnancy and live birth rates included in the clinical outcomes. 3. Per informative retrieval–all retrievals in which either the patient became pregnant or completed transfer of all available embryos with a main outcome of CLBR. Main results and the role of chance Seventy-three patients (34.2±4.3 years) undergoing 128 retrieval cycles were included in the study group. 93 cycles had an AD (72.7%) and 35 AR mutation (27.3%). The control group consisted of 54 patients (33.4±4.5 years; p = 0.57) undergoing 84 retrievals, with 63 (75.0%) AD and 21 (25.0%) AR mutation. The number of embryos available for biopsy per retrieval was similar between the study and control groups (3.99±3.10 vs 3.75±4.14; p = 0.63) as were number of transferable embryos per retrieval (1.27±1.49 (31.9%) vs.1.69±2.37 (45.1%); p = 0.11). Analysis per transfer revealed significantly higher clinical pregnancy rate (45/73 (61.6%) vs. 24/61 (39.3%); p = 0.01), and LBR (41/73 (56.2%) vs. 22/61 (36.1%); p = 0.02) in the study group. There was no difference in early miscarriage rates (6/51 (11.8%) vs. 4/28 (14.3%); p = 0.73). Clinical and ongoing pregnancy rates per informative retrieval were similar between groups as was the CLBR (41/100 (41%) vs. 22/72 (30.6%); p = 0.19). TTP of patients with a live birth was 130.6 + 74.4 days ","PeriodicalId":13003,"journal":{"name":"Human reproduction","volume":"21 1","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503491","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}