Journal of Assisted Reproduction and Genetics最新文献

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Psychosocial and environmental motivational key factors behind the parenthood desire in infertile couples at the time of COVID-19. 在 COVID-19 时,不孕不育夫妇希望为人父母的心理社会和环境动机关键因素。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-30 DOI: 10.1007/s10815-024-03273-9
M Forte, V Zimbardi, G Mariani, A Pellicer, N Garrido, M Chivite, A Palma, F Santos, D Galliano
{"title":"Psychosocial and environmental motivational key factors behind the parenthood desire in infertile couples at the time of COVID-19.","authors":"M Forte, V Zimbardi, G Mariani, A Pellicer, N Garrido, M Chivite, A Palma, F Santos, D Galliano","doi":"10.1007/s10815-024-03273-9","DOIUrl":"https://doi.org/10.1007/s10815-024-03273-9","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the main psychosocial motivational factors behind the increased adoption of IVF during the COVID-19 pandemic.</p><p><strong>Methods: </strong>This prospective, multicenter, observational case-control study assessed the factors motivating infertile couples to pursue their first IVF treatment during the pandemic across various IVF clinics in Spain, Portugal, Italy, the USA, and Panama. A pre-pandemic control group and a post-pandemic participant group were surveyed. The study was conducted between November 2021 and January 2023. The increase in IVF cycles was analyzed, and an ad hoc survey was developed to explore the motivational factors driving IVF engagement.</p><p><strong>Results: </strong>Most clinics reported a significant increase in IVF demand (5.5-8.7%) for all indicators, including the number of started ovarian stimulations, oocyte pickups, and embryo transfers, following the declaration of the pandemic. The extra time spent and the reduced workload were the most important motivations prompting women to pursue their first fertility treatment during the pandemic (time to spend in the couple's relationship-OR, 1.53; 95% CI, 1.06-2.20; p < 0.05; decreased workload-OR, 2.63; 95% CI, 1.11-6.24; p < 0.05).</p><p><strong>Conclusion: </strong>This study highlights that infertility remains a significant stressor for individuals, and the desire to resolve it is not hindered by catastrophic events like COVID-19. Open communication between partners about reproductive intentions, combined with reduced work-related stress, is a key factor influencing the initiation of fertility treatment. It is crucial to encourage couples to take timely action in facing infertility.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347384","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}
引用次数: 0
Quality of IVM ovarian tissue oocytes: impact of clinical, demographic, and laboratory factors. IVM 卵巢组织卵母细胞的质量:临床、人口和实验室因素的影响。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-30 DOI: 10.1007/s10815-024-03234-2
Maria Kashutina, Lilia Obosyan, Ekaterina Bunyaeva, Yury Zhernov, Anastasia Kirillova
{"title":"Quality of IVM ovarian tissue oocytes: impact of clinical, demographic, and laboratory factors.","authors":"Maria Kashutina, Lilia Obosyan, Ekaterina Bunyaeva, Yury Zhernov, Anastasia Kirillova","doi":"10.1007/s10815-024-03234-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03234-2","url":null,"abstract":"<p><strong>Purpose: </strong>To determine how clinical, demographic, and laboratory characteristics influence ovarian tissue oocyte quality.</p><p><strong>Methods: </strong>Immature cumulus-oocyte complexes were isolated from removed ovaries and cultured for 48-52 h in either monophasic standard or biphasic CAPA media for fertility preservation. A total of 355 MII oocytes from 53 patients were described for intracytoplasmic and extracytoplasmic anomalies. Multiple clinical, laboratory, and demographic characteristics were analyzed. Statistically significant differences between independent groups in qualitative variables were identified using Pearson's χ<sup>2</sup> and Fisher's exact tests. The diagnostic value of quantitative variables was assessed using the ROC curve analysis. Factors associated with the development of dysmorphism, taking patient age into account, were identified using the binary logistic regression analysis.</p><p><strong>Results: </strong>Dysmorphisms were observed in 245 oocytes (69.0%), with a median number of dysmorphisms of 2. Oocyte dysmorphisms were found to be 2.211 times more likely to be detected in patients with ovarian cancer, while the presence of dark-colored cytoplasm was associated with gynecologic surgery in the anamnesis (p = 0.002; OR 16.652; 95% CI, 1.977-140.237; Cramer's V 0.187). Small polar bodies developed 2.717 times more often (95% CI, 1.195-6.18) in patients older than 35. In the case of ovarian transportation on ice at 4 ℃, the chances of development of cytoplasmic granularity increased 2.569 times (95% CI, 1.301-5.179). The use of biphasic CAPA IVM media contributed to a decrease in the probability of large polar body formation (p = 0.034) compared to the standard monophasic IVM media.</p><p><strong>Conclusions: </strong>Both patients' characteristics and laboratory parameters have an impact on the quality of IVM ovarian tissue oocytes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347385","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}
引用次数: 0
Pregnancy rate and time to pregnancy after recurrent implantation failure (RIF)-a prospective cohort follow-up study. 复发性植入失败(RIF)后的妊娠率和妊娠时间--前瞻性队列随访研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-30 DOI: 10.1007/s10815-024-03257-9
Linda B P M Stevens Brentjens, Relinde J E Roumen, Luc Smits, Josien Derhaag, Andrea Romano, Ron J T van Golde, Janneke E den Hartog
{"title":"Pregnancy rate and time to pregnancy after recurrent implantation failure (RIF)-a prospective cohort follow-up study.","authors":"Linda B P M Stevens Brentjens, Relinde J E Roumen, Luc Smits, Josien Derhaag, Andrea Romano, Ron J T van Golde, Janneke E den Hartog","doi":"10.1007/s10815-024-03257-9","DOIUrl":"https://doi.org/10.1007/s10815-024-03257-9","url":null,"abstract":"<p><strong>Purpose: </strong>The goal of this study was to determine ongoing pregnancy rate, time to pregnancy and embryo transfers to pregnancy within a cohort of patients with recurrent implantation failure (RIF).</p><p><strong>Methods: </strong>IVF patients with RIF were included after referral to the RIF outpatient clinic. They received a questionnaire 1 year after inclusion. If data was missing, medical files were examined to determine pregnancy outcomes and conception methods. The ability of the RIF outpatient clinic to improve pregnancy chance or increase the number of patients who elected to continue treatment was beyond the scope of this study.</p><p><strong>Results: </strong>The cumulative incidence of ongoing pregnancy in IVF patients with RIF (n = 79) after 1 year of follow-up was 40.5% (95% confidence interval = 30.4-51.5%). Median time to pregnancy was 4 months. Pregnancy incidence increased gradually up to 5 embryo transfers (mostly single embryo transfers). The average embryo transfers to pregnancy were 7.3 transfers.</p><p><strong>Conclusion: </strong>In IVF patients with RIF, up until the 5th embryo transfer, each transfer represents a good opportunity for ongoing pregnancy. This data can be used to counsel patients that regular treatment continuation seems to be well justified even when IVF patients fulfil the RIF criteria.</p><p><strong>Trial registration: </strong>CCMO: NL66835.068.18. METC 18-040. OMON: NL-OMON24778.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347383","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}
引用次数: 0
Comparison of obstetrical and neonatal outcomes between fresh versus frozen-thawed testicular sperm derived from microTESE. 新鲜与冷冻解冻睾丸精子的产科和新生儿预后比较。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-27 DOI: 10.1007/s10815-024-03265-9
Nagawkar Perlov Sima Simcha, Deri Noy, Eldar-Geva Talia, Gal Michael, Reichman Orna, Or Yuval, Ben-Ami Ido
{"title":"Comparison of obstetrical and neonatal outcomes between fresh versus frozen-thawed testicular sperm derived from microTESE.","authors":"Nagawkar Perlov Sima Simcha, Deri Noy, Eldar-Geva Talia, Gal Michael, Reichman Orna, Or Yuval, Ben-Ami Ido","doi":"10.1007/s10815-024-03265-9","DOIUrl":"https://doi.org/10.1007/s10815-024-03265-9","url":null,"abstract":"<p><strong>Purpose: </strong>To compare obstetrical and neonatal outcomes of embryo transfer cycles using fresh vs. frozen-thawed testicular sperm derived from microTESE in non-obstructive azoospermia (NOA) patients.</p><p><strong>Design: </strong>The retrospective cohort study included a total of 48 couples diagnosed with NOA who underwent 93 ET cycles, both fresh and frozen-thawed embryos, and resulted in pregnancy. ET cycles were divided into two groups according to sperm type, fresh (46 cycles, 49.5%) or frozen (47 cycles, 50.5%) testicular sperm. The primary outcome was the birth weight of newborns correlated with gestational week (birth weight percentile).</p><p><strong>Results: </strong>A comparison of patients' basic characteristics and ET cycle parameters showed no significant clinical differences between the groups. A total of 172 embryos were transferred, 86 (50%) in each group. A higher rate of good-quality blastocysts was found in the fresh testicular group (83.3% vs. 50%, p = 0.046). A comparison of pregnancy outcomes showed no significant differences in clinical pregnancy, implantation, or live birth rates. A total of 53 cycles resulted in live birth, 26 (49%) and 27 (51%) in the fresh and frozen groups, respectively. No difference was found in pregnancy length, delivery mode, or obstetrical complications. A total of 61 newborns were included, 31 (51%) and 30 (49%) in fresh and frozen testicular groups, respectively. No significant differences were found in mean birth weight or birth weight percentile between the groups.</p><p><strong>Conclusion: </strong>No significant differences were found in obstetrical outcomes when comparing ET cycles using fresh or frozen-thawed testicular sperm retrieved from microTESE. Moreover, there is no association between the sperm source and the birth weight of newborns.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347379","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}
引用次数: 0
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms. 揭开早期胚胎停育的神秘面纱:遗传因素和分子机制。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-26 DOI: 10.1007/s10815-024-03259-7
Jinyi Zhang, Jing Lv, Juling Qin, Ming Zhang, Xuanyi He, Binyu Ma, Yingjing Wan, Ying Gao, Mei Wang, Zhidan Hong
{"title":"Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.","authors":"Jinyi Zhang, Jing Lv, Juling Qin, Ming Zhang, Xuanyi He, Binyu Ma, Yingjing Wan, Ying Gao, Mei Wang, Zhidan Hong","doi":"10.1007/s10815-024-03259-7","DOIUrl":"https://doi.org/10.1007/s10815-024-03259-7","url":null,"abstract":"<p><p>Early embryonic arrest (EEA) is a critical impediment in assisted reproductive technology (ART), affecting 40% of infertile patients by halting the development of early embryos from the zygote to blastocyst stage, resulting in a lack of viable embryos for successful pregnancy. Despite its prevalence, the molecular mechanism underlying EEA remains elusive. This review synthesizes the latest research on the genetic and molecular factors contributing to EEA, with a focus on maternal, paternal, and embryonic factors. Maternal factors such as irregularities in follicular development and endometrial environment, along with mutations in genes like NLRP5, PADI6, KPNA7, IGF2, and TUBB8, have been implicated in EEA. Specifically, PATL2 mutations are hypothesized to disrupt the maternal-zygotic transition, impairing embryo development. Paternal contributions to EEA are linked to chromosomal variations, epigenetic modifications, and mutations in genes such as CFAP69, ACTL7A, and M1AP, which interfere with sperm development and lead to infertility. Aneuploidy may disrupt spindle assembly checkpoints and pathways including Wnt, MAPK, and Hippo signaling, thereby contributing to EEA. Additionally, key genes involved in embryonic genome activation-such as ZSCAN4, DUXB, DUXA, NANOGNB, DPPA4, GATA6, ARGFX, RBP7, and KLF5-alongside functional disruptions in epigenetic modifications, mitochondrial DNA, and small non-coding RNAs, play critical roles in the onset of EEA. This review provides a comprehensive understanding of the genetic and molecular underpinnings of EEA, offering a theoretical foundation for the diagnosis and potential therapeutic strategies aimed at improving pregnancy outcomes.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347387","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}
引用次数: 0
Disparities in access to fertility preservation among adolescents undergoing gonadotoxic therapies. 接受性腺毒性治疗的青少年在获得生育力保存方面的差异。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-26 DOI: 10.1007/s10815-024-03253-z
Hana G Murphy, Erin Isaacson, Molly B Moravek, Erin Ellman, Sarah D Compton, Monica W Rosen
{"title":"Disparities in access to fertility preservation among adolescents undergoing gonadotoxic therapies.","authors":"Hana G Murphy, Erin Isaacson, Molly B Moravek, Erin Ellman, Sarah D Compton, Monica W Rosen","doi":"10.1007/s10815-024-03253-z","DOIUrl":"https://doi.org/10.1007/s10815-024-03253-z","url":null,"abstract":"<p><strong>Purpose: </strong>Fertility preservation (FP) for adolescents prior to potentially gonadotoxic therapies is not accessible for all patients. Current literature acknowledges multiple barriers to FP, but research surrounding disparities for accessing these services is limited. We aimed to identify inequities in receiving FP services among adolescents undergoing gonadotoxic therapy.</p><p><strong>Methods: </strong>A retrospective chart review was performed at a single academic medical center for patients aged 0-21 referred for FP counseling prior to gonadotoxic therapy. Exclusions included referral after treatment, prior to gender-affirming therapy, or for fertility discussion due to a genetic condition. Minority patients were defined as non-White race and/or Hispanic ethnicity. Non-minority patients were defined as White, non-Hispanic. Analyses to assess differences in receiving FP based on minority identity and insurance status were performed via logistic regression, with receiving desired care as the outcome variable.</p><p><strong>Results: </strong>Our cohort included 136 patients-38 minority and 98 non-minority. Forty-six (33.8%) patients had Medicaid, which did not differ between minority and non-minority (42.1% vs. 38.8%, P = .73). Most patients (83.1%) had a cancer diagnosis. Similar proportions of minority and non-minority patients had gonadotoxic treatment starting urgently (52.6% vs. 55.1%, P = .80), while more minority than non-minority patients desired FP (89.5% vs .77.5%, P = .10). When controlling for insurance type and age, minority participants were 12.8% less likely to receive desired FP (marginal effect =  - .128, P = .05).</p><p><strong>Conclusions: </strong>This study identified significant inequities for minority populations in accessing FP. Further research is needed to determine how to make FP services more accessible to all patients, regardless of minority status.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347381","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}
引用次数: 0
TET1 overexpression affects cell proliferation and apoptosis in aging ovaries. TET1 过表达会影响衰老卵巢的细胞增殖和凋亡。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-25 DOI: 10.1007/s10815-024-03271-x
Qiang Feng, Qirong Li, Yurui Hu, Zhan Wang, Hengzong Zhou, Chao Lin, Dongxu Wang
{"title":"TET1 overexpression affects cell proliferation and apoptosis in aging ovaries.","authors":"Qiang Feng, Qirong Li, Yurui Hu, Zhan Wang, Hengzong Zhou, Chao Lin, Dongxu Wang","doi":"10.1007/s10815-024-03271-x","DOIUrl":"https://doi.org/10.1007/s10815-024-03271-x","url":null,"abstract":"<p><strong>Purpose: </strong>Along with the progress of society, human life expectancy has been increasing, and late marriage and late childbearing are the current trend. Since reproductive aging affects fertility, ovarian aging in women has become a major reproductive health issue in the current society. During ovarian aging, DNA methylation levels may change. The ten-eleven translocation (TET) protein family proteins TET1, TET2, and TET3 are important DNA demethylation enzymes, and differential expression of TET1, TET2, and TET3 may affect the proliferation and apoptosis of aging ovarian cells. The aim of this study was to investigate the role of TET1 in the regulation of ovarian aging.</p><p><strong>Methods: </strong>The expression of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) was analyzed by immunofluorescence (IF) in young and aging ovaries of six 6-8-week-old female mice and six 6-8-month-old female mice. Then, the expression pattern of the TET protein family in young and aging ovaries of mice was investigated. To determine the impact of TET1 on ovarian development, the aging of IOSE-80, KGN, and SKOV-3 cells was induced with D-galactosidase (D-gal). Cells were then transfected using the TET1 overexpression vector or si-TET1. We assessed the proliferation and apoptosis of aging cells after transfection and analyzed the regulatory effect of TET1 expression on aging cells. Additionally, we verified the Tet1 expression in Tet1-KO mice.</p><p><strong>Results: </strong>The 5mC to 5hmC transition, oocyte maturation, and blastocyst rate were reduced in aging mice compared to young mice. In aging mice ovaries, the expression levels of Tet1, Tet2, and Tet3 were reduced significantly, with Tet1 being particularly pronounced. The overexpression of TET1 promoted proliferation and inhibited apoptosis in aging human ovarian cells. Furthermore, Tet1 expression was very low in Tet1-KO C57BL/6 J mice ovaries.</p><p><strong>Conclusion: </strong>This study demonstrates that the expression levels of TET family proteins are low in aging ovaries, and the overexpression of TET1 can promote proliferation and inhibit apoptosis in aging ovarian cells.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347386","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}
引用次数: 0
Advances in the genetic etiology of female infertility. 女性不孕症遗传病因学研究进展。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-25 DOI: 10.1007/s10815-024-03248-w
Ruihuan Gu, Tianyu Wu, Jing Fu, Yi-Juan Sun, Xiao-Xi Sun
{"title":"Advances in the genetic etiology of female infertility.","authors":"Ruihuan Gu, Tianyu Wu, Jing Fu, Yi-Juan Sun, Xiao-Xi Sun","doi":"10.1007/s10815-024-03248-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03248-w","url":null,"abstract":"<p><p>Human reproduction is a complex process involving gamete maturation, fertilization, embryo cleavage and development, blastocyst formation, implantation, and live birth. If any of these processes are abnormal or arrest, reproductive failure will occur. Infertility is a state of reproductive dysfunction caused by various factors. Advances in molecular genetics, including cell and molecular genetics, and high-throughput sequencing technologies, have found that genetic factors are important causes of infertility. Genetic variants have been identified in infertile women or men and can cause gamete maturation arrest, poor quality gametes, fertilization failure, and embryonic developmental arrest during assisted reproduction technology (ART), and thus reduce the clinical success rates of ART. This article reviews clinical studies on repeated in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) failures caused by ovarian dysfunction, oocyte maturation defects, oocyte abnormalities, fertilization disorders, and preimplantation embryonic development arrest due to female genetic etiology, the accumulation of pathogenic genes and gene pathogenic loci, and the functional mechanism and clinical significance of pathogenic genes in gametogenesis and early embryonic development.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347378","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}
引用次数: 0
Population-based FMR1 carrier screening among reproductive women. 在育龄妇女中开展基于人口的 FMR1 携带者筛查。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-25 DOI: 10.1007/s10815-024-03242-2
Quratul Ain, Ye Hyun Hwang, Daryl Yeung, Pacharee Panpaprai, Wiwat Iamurairat, Wiboon Chutimongkonkul, Objoon Trachoo, Flora Tassone, Poonnada Jiraanont
{"title":"Population-based FMR1 carrier screening among reproductive women.","authors":"Quratul Ain, Ye Hyun Hwang, Daryl Yeung, Pacharee Panpaprai, Wiwat Iamurairat, Wiboon Chutimongkonkul, Objoon Trachoo, Flora Tassone, Poonnada Jiraanont","doi":"10.1007/s10815-024-03242-2","DOIUrl":"https://doi.org/10.1007/s10815-024-03242-2","url":null,"abstract":"<p><strong>Purpose: </strong>Fragile X syndrome (FXS) is a neurodevelopmental disorder, caused by an CGG repeat expansion (FM, > 200 CGG) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Female carriers of a premutation (PM; 55-200 CGG) can transmit the PM allele, which, depending on the CGG allele size, can expand to an allele in the FM range in the offspring.</p><p><strong>Methods: </strong>Carrier screening for FMR1 PM is not available in Thailand. This study aimed to investigate the prevalence of PM carriers among Thai reproductive women at the tertiary hospital. A total of 1250 females participated in this study; ages ranged from 20 to 45 years, mean of 30 years (S.D. = 6.27).</p><p><strong>Results: </strong>Two carriers of a premutation allele, with 32,62 and 32,69 CGG repeats respectively, were identified. This corresponds to 1 in 600 women or 0.17% of the population. Further, three women carrying a gray zone allele (45-54 CGG repeats) were identified (29,51; 29,49; and 30,47 CGG repeats) which equals to 1:400 women or 0.25% of the population. No FM case was detected.</p><p><strong>Conclusions: </strong>This study heightens the importance of PM carrier screening of women of reproductive age, particularly for the higher risk of developing fragile X-associated primary ovarian insufficiency (FXPOI). Early identification of PM carrier status enhances family planning and fecundity alternatives and improves reproductive health outcomes leading to a better life.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347382","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}
引用次数: 0
Current status and hotspots of in vitro oocyte maturation: a bibliometric study of the past two decades. 体外卵母细胞成熟的现状和热点:过去二十年的文献计量学研究。
IF 3.2 3区 医学
Journal of Assisted Reproduction and Genetics Pub Date : 2024-09-25 DOI: 10.1007/s10815-024-03272-w
Yi-Ru Chen, Wei-Wei Yin, Yi-Ru Jin, Ping-Ping Lv, Min Jin, Chun Feng
{"title":"Current status and hotspots of in vitro oocyte maturation: a bibliometric study of the past two decades.","authors":"Yi-Ru Chen, Wei-Wei Yin, Yi-Ru Jin, Ping-Ping Lv, Min Jin, Chun Feng","doi":"10.1007/s10815-024-03272-w","DOIUrl":"https://doi.org/10.1007/s10815-024-03272-w","url":null,"abstract":"<p><strong>Purpose: </strong>In vitro maturation (IVM) of oocytes is a promising technique among assisted reproductive technologies. Although IVM has been used for many years, its efficiency is still relatively low compared to that of traditional in vitro fertilization (IVF) procedures. Therefore, we aimed to explore the hotspots and frontiers of IVM research over the past two decades and provide direction for IVM advancement.</p><p><strong>Methods: </strong>The articles and reviews related to IVM in the Web of Science Core Collection (WoSCC) were retrieved on June 03, 2024. Three bibliometric tools, VOSviewer 1.6.18 (2010), CiteSpace 6.1. R6 (2006), and Bibliometrix R package 4.1.0 (2017), were used to generate network maps and explore knowledge frontiers and trends. To uncover the latest research advancements and frontiers in the IVM field, we conducted an analysis of the entire IVM field, including all species. Given our focus on human IVM developments, we identified the leading countries, institutions, authors, and journals driving progress in human IVM.</p><p><strong>Results: </strong>A total of 5150 publications about IVM and 1534 publications in the specific context of human IVM were retrieved from the WoSCC. The number of publications on both overall IVM and human IVM fields has increased steadily. In human IVM, the United States (USA) and McGill University were the most prolific country and institution, respectively. Human Reproduction was both the most published in and the most cited journal in human IVM. Seang Lin, Tan was the most productive author, and Ri-Cheng, Chian's papers were the most cited in human IVM. Furthermore, five hotspot topics were summarized, namely, culture system, supplementation, cooperation in the ovarian follicle, gene expression, and oocyte cryopreservation.</p><p><strong>Conclusions: </strong>Further studies could concentrate on the following topics: (1) the mechanisms involved in oocyte maturation in vivo and in vitro, especially in energy metabolism and intercellular communications; (2) the establishment of IVM culture systems, including standardization of the biphasic IVM culture system and supplementation; (3) the genetic differences between oocytes matured in vivo and in vitro; and (4) the mechanism of cryopreservation-inflicted damage and solutions to this challenge. For human IVM, it is necessary to precisely assess the developmental stages of oocytes and adjust the IVM process accordingly to develop tailored culture media. Concurrently, clinical trials are essential for evaluating the effectiveness and safety of IVM.</p>","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142347380","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}
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