Journal of Assisted Reproduction and Genetics最新文献

{"title":"The attitude of (would-be) recipients of donor sperm and interested persons regarding a worldwide family limit per donor.","authors":"Guido Pennings, Emilie Lassen, Anne-Bine Skytte","doi":"10.1007/s10815-026-04028-4","DOIUrl":"https://doi.org/10.1007/s10815-026-04028-4","url":null,"abstract":"<p><strong>Purpose: </strong>This study assessed the attitudes of (would-be) recipients of donor sperm and interested persons toward worldwide donor family quota, ideal and acceptable family numbers, reasons for supporting or opposing limits, and willingness to pay for restricted donors.</p><p><strong>Methods: </strong>A cross-sectional online survey was conducted between August and September 2025. Univariate and multinomial logistic regression analyses were performed to identify demographic predictors of attitudes toward a worldwide family limit.</p><p><strong>Results: </strong>Overall, 70.3% of respondents supported a worldwide donor family quota, 21.6% opposed it, and 7.7% were uncertain. Support was significantly associated with older age, higher education, higher income, European residence, and being a mother of a donor-conceived child. In multinomial analyses, respondents in heterosexual relationships and those living outside Europe were significantly more likely to oppose a worldwide limit. The most frequently cited reason for supporting a limit was concern about accidental romantic relationships between donor half-siblings, followed by concerns about genetic disease transmission and psychosocial harm associated with large donor-sibling groups. Those opposing a worldwide limit most commonly cited reduced access to donor sperm, longer waiting times, and the absence of compelling reasons for a global cap. Five families was the most commonly preferred limit, whereas 15-25 families were more often considered acceptable. Willingness to pay increased as family limits decreased.</p><p><strong>Conclusion: </strong>Most respondents supported a worldwide donor family limit, although the principal reasons cited-consanguinity and genetic disease risks-are not supported by current scientific evidence. Policymakers should balance concerns about large same-donor offspring groups against the potential consequences of stricter limits, including reduced access to donor sperm, higher costs, longer waiting times, and diminished reproductive choice.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976825","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":"Pathogenicity assessment of genetic variants in reproductive disorders.","authors":"Zilala Silajiding, Lingjun Shen, Maoning Wang, Lu Long, Yuechao Lu","doi":"10.1007/s10815-026-04032-8","DOIUrl":"https://doi.org/10.1007/s10815-026-04032-8","url":null,"abstract":"<p><strong>Purpose: </strong>This review aims to summarize the available methods and current challenges in assessing the pathogenicity of genetic variants associated with reproductive disorders, with a particular focus on variants affecting oocyte maturation and early embryonic development. It also discusses how functional studied, computational approaches, and clinical evidence can be integrated with the ACMG/AMP framework to support more accurate variant interpretation and clinical decision-making.</p><p><strong>Methods: </strong>In this review, we included the ACMG/AMP guidelines, studies on genes related to oocyte maturation and early embryonic development, and research on ACMG/AMP-based pathogenicity assessment tools. We searched PubMed, Embase, and Web of Science for literature published up from January 2000 to June 2026. We excluded pre-2000 publications (except foundational articles) and non-English papers. Results were reported descriptively.</p><p><strong>Results: </strong>The application of the ACMG/AMP general framework to variants associated with oocyte maturation defects and early embryonic arrest faces challenges. In infertility-related variant interpretation, there are clinical practice barriers, difficulties in obtaining functional evidence, limitations of general population databases, and high false-positive rates of in silico prediction tools that collectively result in pathogenic variants being classified as variants of uncertain significance (VUS). Corresponding adaptation strategies include prioritizing reproduction-specific databases (IMIGC, FeRGI), introducing gene-/domain-specific weighting, employing automated ACMG-based classification tools (Franklin, VarSome, InterVar) with manual review, and adopting organoid technology for high-level functional evidence.</p><p><strong>Conclusion: </strong>Accurate interpretation of genetic variants associated with reproductive disorder requires integrating clinical evidence, functional study together with ACMG/AMP general framework. Gene-specific standards, supported by reproductive databases and calibrated evidence rules, may improve molecular diagnosis and personalized assisted reproductive technology (ART) strategy. A ClinGen Variant Curation Expert Panel (VCEP) focusing on oocyte and embryonic developmental deficiencies may also be required.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148976818","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":"Cumulative adverse social determinants of health, prolonged unsuccessful conception, and infertility-related healthcare contact among U.S. women: NHANES 2013-2016.","authors":"Renjie Huang, Miao Huang, Rui Zhang","doi":"10.1007/s10815-026-04029-3","DOIUrl":"https://doi.org/10.1007/s10815-026-04029-3","url":null,"abstract":"<p><strong>Purpose: </strong>To examine whether cumulative adverse social determinants of health (SDOH) were associated differently with self-reported prolonged unsuccessful conception, infertility-related healthcare contact, and healthcare contact among women reporting prolonged unsuccessful conception.</p><p><strong>Methods: </strong>We analyzed women aged 20-59 years from the 2013-2016 National Health and Nutrition Examination Survey (NHANES). The final Model 2 cohort included 3145 participants. An eight-domain adverse SDOH score was calculated only when every domain was determinable. Survey-weighted logistic regression estimated associations per 1-point higher score. Model 1 adjusted for flexible age and race/ethnicity; Model 2 additionally adjusted for smoking, alcohol use, and BMI category; Model 3 additionally adjusted for cardiovascular disease, hypertension, diabetes, and hyperlipidemia. Sensitivity analyses evaluated reproductive eligibility, exposure construction, survey cycle, and selection.</p><p><strong>Results: </strong>In Model 2, each 1-point higher SDOH score was associated with lower odds of reporting at least 12 months of unsuccessful conception (OR 0.91, 95% CI 0.85-0.98), infertility-related healthcare contact (OR 0.86, 95% CI 0.80-0.92), and healthcare contact among women reporting prolonged unsuccessful conception (OR 0.81, 95% CI 0.69-0.94). The unsuccessful conception estimate attenuated toward the null under several stricter reproductive eligibility restrictions and after omission of the marital/social domain. The healthcare contact associations were more directionally consistent. Pregnancy history interactions did not provide clear evidence of heterogeneity, and age heterogeneity was specification-sensitive.</p><p><strong>Conclusion: </strong>Greater cumulative social disadvantage was associated with lower odds of reporting a ≥ 12-month unsuccessful conception history and, more consistently, lower odds of infertility-related healthcare contact. These cross-sectional patterns may reflect reproductive opportunity, partnership and social context, recognition/reporting, and access to care; they should not be interpreted as evidence that social disadvantage improves biological fecundability.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148968873","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":"Fertility preservation strategies and long-term reproductive outcomes in women treated for breast cancer.","authors":"Mathilde Bourdon, Clara Weinstein, Virginie Barraud-Lange, Florence Coussy, Lea Melka, Chloe Maignien, Julia Gonnot, Khaled Pocate-Cheriet, Charles Chapron, Pietro Santulli","doi":"10.1007/s10815-026-04030-w","DOIUrl":"https://doi.org/10.1007/s10815-026-04030-w","url":null,"abstract":"<p><strong>Purpose: </strong>What are the fertility preservation(FP) strategies and long-term reproductive outcomes in women with breast cancer?</p><p><strong>Methods: </strong>Cohort study including women aged 18-40 years referred for FP counseling between 2015 and 2019 at a tertiary care centre. FP strategies comprised controlled ovarian stimulation (COS) or in vitro maturation (IVM) with oocyte and/or embryo vitrification, and ovarian tissue cryopreservation (OTC), used alone or in combination. Long-term follow-up (≥ 5 years) assessed ovarian function, pregnancy intention, conception modalities, and reproductive outcomes.</p><p><strong>Results: </strong>A total of 165 patients were included (mean age 33.2 ± 3.9 years). Chemotherapy was administered as adjuvant setting in 47.3% (n = 78) and as neoadjuvant in 41.2% (n = 68) of patients, while 11.5% (n = 19) did not receive chemotherapy. A FP strategy was proposed to 151 patients (91.5%) and performed in 123(74.5%). COS was the most frequently used technique (40,6%), followed by IVM (33,3%) and OTC (5,4%). Forty-two patients (25.5%) did not undergo FP. Long-term follow-up was available for 94 patients (57.0%). Among them, 45(47.9%) reported an attempt to conceive. 60.0% (27/45) achieved a live birth (LB). 18(66.7%) conceived spontaneously, whereas 9(33.3%) achieved a LB using assisted reproductive technologies. Cryopreserved material was used by 9 women (9/45, 20.0%) resulting in 2 LB. Compared with women without a pregnancy intention, women who reported an attempt to conceive more frequently had hormone receptor negative disease, received less adjuvant chemotherapy, and more often reported regular cycles; embryo cryopreservation was also more frequent.</p><p><strong>Conclusion: </strong>FP is feasible in young women with breast cancer. Despite exposure to potentially gonadotoxic treatments, pregnancy and LB remain achievable, most often spontaneously.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955382","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":"The effects of physical activity on female fertility: a narrative review.","authors":"Maria Soares, Inês Moniz, Francisca Costa, Ana Filipa Ferreira, Ana Branco, Teresa Almeida-Santos, João Ramalho-Santos, Ana Paula Sousa","doi":"10.1007/s10815-026-03924-z","DOIUrl":"https://doi.org/10.1007/s10815-026-03924-z","url":null,"abstract":"<p><p>Infertility is the inability to conceive after 1 year of regular unprotected sexual intercourse. Modifiable factors such as lifestyle interventions and nonmodifiable factors (advanced maternal age or reproductive disorders) can impact female fertility. Despite the still suboptimal success rates, assisted reproductive technologies (ARTs) remain a useful tool to overcome reproductive challenges. However, additional strategies to improve fertility are still required. Physical activity (PA) impacts overall health, including reproductive function. The effects of PA depend on its frequency, intensity, and duration and may vary depending on the individual's health status and reproductive context. This makes designing a one-size-fits-all PA regimen to improve fertility a particularly challenging task. To address this issue, we review and discuss the existing evidence regarding the impact of PA on the female reproductive system. Human studies indicate that women trying to conceive, women undergoing ART, and pregnant women should engage in regular moderate PA, since it is proven to be beneficial to both women and fetus. In contrast, excessive exercise, especially combined with low caloric intake, can negatively impact ovarian function and the female reproductive axis. Animal studies, in turn, provide relevant insight into the molecular/cellular consequences of PA: on how it affects hormonal changes, follicle development and integrity, oocyte mitochondrial fitness, spindle organization/chromosome alignment, and transcriptomic modifications, otherwise difficult to study in human samples. Overall, understanding how PA alters the female reproductive system might be key to establishing new therapeutic strategies to tackle infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148955653","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":"Artificial intelligence in reproductive medicine and education: current evidence, challenges, and future directions.","authors":"Jianye Wang, Zhicheng Jia, Keliang Wu, Penglin Liu, Jiale Du, Li Li","doi":"10.1007/s10815-026-04006-w","DOIUrl":"https://doi.org/10.1007/s10815-026-04006-w","url":null,"abstract":"<p><strong>Objective: </strong>To review the current evidence on artificial intelligence (AI) in reproductive medicine, with particular emphasis on education, training, assessment, risks, and supervised implementation considerations.</p><p><strong>Methods: </strong>We performed a structured literature search of studies published during the past 10 years in PubMed/MEDLINE, Web of Science Core Collection, and Scopus. We included studies that explicitly addressed education, training, assessment, curriculum, or competency development in reproductive medicine or closely related obstetrics and gynecology settings. Purely clinical prediction studies without clear educational relevance were excluded.</p><p><strong>Results: </strong>The literature clusters into five domains: large language models (LLMs)/generative AI, AI-assisted ultrasound training, embryology and assisted reproductive technology (ART) workflow training, AI-enabled assessment and feedback, and implementation governance. LLMs may support case discussion, formative feedback, and examination preparation, but hallucinations, unreliable citations, and overreliance remain major concerns. AI-assisted ultrasound systems may improve standard-view acquisition and measurement consistency, although performance in atypical cases remains uncertain. In embryology and ART workflows, AI may improve reproducibility and quality assurance, but current evidence does not support unsupervised replacement of expert judgment. AI-supported assessment is increasingly feasible, but high-stakes evaluation should prioritize reasoning, evidence tracing, and uncertainty management rather than fluent output alone. Across domains, successful implementation depends on faculty development, human oversight, and governance frameworks that address transparency, bias, and model monitoring.</p><p><strong>Conclusion: </strong>In reproductive medicine education, AI is best understood as a supervised adjunct rather than an autonomous substitute. The most defensible approach combines phased curricular integration, explicit guardrails, trust calibration, and stronger longitudinal evaluation of learner and workflow outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148929998","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":"Preconception maternal body mass index and offspring sex ratio in intrauterine insemination cycles.","authors":"Chunli Wang, Danmeng Liu, Juanzi Shi, Zhou Zhang, Michal Siegel Kirshenbaum, He Cai","doi":"10.1007/s10815-026-04022-w","DOIUrl":"https://doi.org/10.1007/s10815-026-04022-w","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the association between maternal preconception body mass index (BMI) and offspring sex ratio among women undergoing intrauterine insemination (IUI) treatment.</p><p><strong>Methods: </strong>This retrospective cohort study analyzed 17,116 IUI cycles from 9581 women treated at a single large fertility center between 2015 and 2024. Maternal preconception BMI, measured at the start of each IUI cycle, was categorized into four groups: underweight (< 18.5 kg/m²), normal weight (18.5-24.9 kg/m²), overweight (25.0-29.9 kg/m²), and obesity (≥ 30.0 kg/m²). The primary outcome was the proportion of male live births, with secondary sex ratio (SSR; male births per 100 female births) reported descriptively. Associations were estimated using generalized estimating equations to account for repeated cycles per patient, with adjustment for potential confounders using inverse probability weighting based on the generalized propensity score.</p><p><strong>Results: </strong>Among 3224 live-born infants with documented sex, 1629 (50.5%) were male and 1595 (49.5%) were female, yielding an overall sex ratio of 102.1 males per 100 females. The male-to-female sex ratio declined progressively with increasing maternal preconception BMI: 120.4 for underweight, 106.3 for normal weight, 85.3 for overweight, and 65.3 for obese women. In adjusted analyses, overweight women had a significantly lower likelihood of male offspring (adjusted RR, 0.88; 95% CI, 0.80-0.98) and a correspondingly higher likelihood of female offspring (RR, 1.13; 95% CI, 1.03-1.23) compared with normal-weight women. A directionally similar but statistically non-significant inverse association was observed in the obesity subgroup (adjusted RR, 0.77; 95% CI, 0.58-1.04), which was based on only 81 live births. The inverse trend across BMI categories was significant for male births (P for trend = 0.012), as was the positive trend for female births (P for trend = 0.004).</p><p><strong>Conclusion: </strong>Higher maternal preconception BMI was associated with a lower proportion of male live births and a reduced secondary sex ratio among women undergoing IUI. These findings support the hypothesis that maternal metabolic status may modulate sex-specific live birth outcomes, possibly through differential embryonic or fetal survival.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906076","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":"A catalytically competent sperm PLCzeta variant causes fertilization failure through protein insufficiency.","authors":"Alaaeldin Saleh, Zizhen Huang, Zeyaul Islam, Karl Swann, Michail Nomikos","doi":"10.1007/s10815-026-04023-9","DOIUrl":"10.1007/s10815-026-04023-9","url":null,"abstract":"<p><strong>Purpose: </strong>The PLCζ p.Arg385Gln (R385Q) variant was recently identified in infertile patients with recurrent fertilization failure and markedly reduced sperm PLCζ levels. However, whether this variant causes infertility through loss of catalytic function or protein insufficiency remains unknown.</p><p><strong>Methods: </strong>The structural and functional consequences of the R385Q variant were investigated using structural modelling, protein stability prediction, recombinant PLCζ enzymatic assays, and mouse oocyte microinjection followed by Ca²⁺ oscillation analysis.</p><p><strong>Results: </strong>Structural modelling predicted that the R385Q substitution destabilizes the catalytic domain without disrupting the active site. Consistent with this prediction, recombinant PLCζ^R385Q exhibited phosphatidylinositol 4,5-bisphosphate (PIP₂) hydrolytic activity comparable to wild-type PLCζ. Likewise, microinjection of PLCζ^R385Q cRNA into mouse oocytes induced Ca²⁺ oscillations with frequencies and patterns indistinguishable from those elicited by wild-type PLCζ, demonstrating preserved catalytic and oocyte activation activity.</p><p><strong>Conclusion: </strong>These findings indicate that the R385Q variant is catalytically competent and does not cause infertility through loss of enzymatic function. Instead, together with our previous demonstration of markedly reduced PLCζ protein levels in patient sperm, the results support a protein insufficiency mechanism in which fertilization failure arises when PLCζ levels fall below the threshold required for physiological oocyte activation. This study expands the spectrum of pathogenic mechanisms underlying PLCζ-associated male infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148906017","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 analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.","authors":"Shimin Yuan, Xiao Hu, Duo Yi, Xiaomeng Zhao, Zhenxing Wan, Wen-Bin He, Liang Hu, Guangxiu Lu, Ge Lin, Yue-Qiu Tan, Juan Du","doi":"10.1007/s10815-026-04024-8","DOIUrl":"https://doi.org/10.1007/s10815-026-04024-8","url":null,"abstract":"<p><strong>Purpose: </strong>To elucidate the genetic etiology of osteogenesis imperfecta (OI) in affected families and to characterize reproductive decision-making, reproductive interventions, and pregnancy outcomes of these families.</p><p><strong>Methods: </strong>Fifty-one families with clinically suspected OI underwent variant analysis by Sanger sequencing or next-generation sequencing (NGS) and clinical follow-up of reproductive options and pregnancy outcomes.</p><p><strong>Results: </strong>Of the 51 enrolled families, 37 probands had mild phenotypes and 14 presented with severe phenotypes. Genetic analysis revealed that 46 probands (90.2%) carried heterozygous variants in COL1A1 or COL1A2, and five (9.8%) harbored biallelic variants in WNT1, CRTAP, P3H1, and SERPINF1. Of the identified variants, 14 were novel. Among the 45 families with follow-up data, the proportion of couples who discontinued reproductive attempts was higher in the OI-women group than in the OI-men and normal-parent groups (35.3% vs. 5.9% and 18.2%, respectively), though the differences were not statistically significant. Both women with severe OI (n = 2) discontinued reproductive attempts, compared with 26.7% of women with mild OI. Thirty families underwent preimplantation genetic testing (PGT), which yielded 22 healthy live births. Among the remaining families, six (seven pregnancies) opted for spontaneous conception or conventional IVF with prenatal diagnosis, resulting in two terminations of affected fetuses and five healthy live births. The cesarean section rate in the OI-women group was significantly higher than that in the OI-men group (81.8% vs. 27.3%, P = 0.030), whereas the difference from the normal-parent group was not statistically significant (81.8% vs. 60.0%, P = 0.547). One woman with OI experienced reduced bone mineral density during pregnancy.</p><p><strong>Conclusion: </strong>Our findings expand the OI mutational spectrum and suggest that reproductive decision-making may vary according to the sex of the affected parent, inheritance patterns, and phenotypic severity. A high cesarean section rate and skeletal complications were observed among women with OI during pregnancy, indicating that maternal and obstetric outcomes warrant careful attention in this population. Moreover, PGT was associated with healthy live births in this cohort and may reduce the likelihood of affected pregnancies in selected families.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897409","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":"Effects of assisted reproductive techniques on offspring cardiovascular health: a systematic review and meta-analysis.","authors":"Andrea Crafa, Rossella Cannarella, Rosita A Condorelli, Sandro La Vignera, Nicolás Garrido Puchalt, Aldo E Calogero","doi":"10.1007/s10815-026-04004-y","DOIUrl":"https://doi.org/10.1007/s10815-026-04004-y","url":null,"abstract":"<p><p>Assisted reproductive techniques (ART) are increasingly used worldwide. Concerns persist regarding the long-term cardiovascular health of ART-conceived offspring. To systematically review and meta-analyze cardiovascular, vascular, and echocardiographic outcomes in ART-conceived offspring compared with naturally conceived children. PubMed and Scopus were searched from database inception to January 2025. Reference lists of eligible articles were manually screened. Searches included terms related to assisted reproductive technologies, offspring, and cardiovascular outcomes. Only human studies published in English were included. Observational cohort, cross-sectional, and case-control studies evaluating cardiovascular outcomes in ART-conceived offspring with a naturally conceived comparison group were eligible. Studies without relevant outcomes, lacking a control group, or including populations with genetic conditions affecting cardiovascular health were excluded. Two reviewers independently screened studies, with disagreements resolved by a third investigator. Eighty-one studies met inclusion criteria. Data extraction was independently performed by two reviewers following PRISMA and MOOSE guidelines. Risk of bias and study quality were assessed using the Cambridge Quality Checklist. Meta-analyses were conducted using fixed- or random-effects models according to heterogeneity (I² statistic). Meta-regression analyses explored the influence of parental and perinatal factors. Primary outcomes included vascular indices (carotid intima-media thickness [CIMT], flow-mediated dilation [FMD]), risk of congenital heart disease (CHD), echocardiographic measures of cardiac structure and function, and blood pressure. ART conception was associated with increased CIMT in singleton offspring (mean difference, 0.03 mm; 95% CI, 0.01-0.06) and reduced FMD (mean difference, - 2.32%; 95% CI, - 3.05 to - 1.59). ART-conceived children showed a higher risk of CHD, including severe forms, particularly in singleton pregnancies. Echocardiographic analyses revealed subtle alterations in left ventricular function, including reduced shortening fraction and prolonged isovolumetric relaxation time. Systolic blood pressure was slightly higher in ART offspring. Meta-regression indicated that vascular and echocardiographic alterations were largely independent of parental age, body mass index, gestational age, and birth weight. ART conception is associated with early vascular dysfunction, increased CHD risk, and subtle cardiac functional alterations that may precede future cardiovascular disease, supporting the need for long-term cardiovascular follow-up.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148887584","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}