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Functional analysis of missense mutations in GLI2 and GLI3 involved in congenital heart disease 先天性心脏病中GLI2和GLI3错义突变的功能分析
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-10-27 DOI: 10.1097/RD9.0000000000000048
Rui Peng, Lei Lu, Bing-Kun Lei, Hong-Yan Wang, Xiao-ying Yao
Objective: In this study, we aimed to explore the biological functions of 10 rare case-specific missense mutations in GLI2 and 4 in GLI3, which were previously screened in a cohort of 412 patients with congenital heart disease (CHD) and 213 normal controls from Shandong Province, China. Methods: A dual-luciferase reporter assay was used to assess the effects of these mutations in GLI2 and GLI3 on the activity of the sonic Hedgehog signaling pathway in HEK293T cells. Differences in protein levels between mutant and wild-type GLI2 and GLI3 were detected in HEK293T cells using Western blotting. Results: The dual-luciferase reporter assay showed that compared to the wild-type GLI2 protein, p.A1113V significantly increased activation of the sonic Hedgehog signaling pathway, whereas p.H78P and p.I1451S did not have a significant effect. The other mutations largely reduced the activation effect. Compared with the wild-type GLI3 protein, only p.A286V, among the four mutations, significantly reduced the activation effect on the SHH signaling pathway. Western blotting data showed reduced expression of GLI2 p.G716V, GLI2 p.K736N, GLI2 p.I1451S, and GLI3 p.A286V, whereas the remaining mutations had no significant effects. Conclusion: The mutations GLI2 c.2147G>T (p.G716V), GLI2 c.2208G>C (p.K736N), and GLI3 c.857C>T (p.A286V) involved in CHD affect the regulation of the sonic Hedgehog signaling pathway; thus, these rare missense mutations in GLI2 and GLI3 might increase the risk of CHD.
目的:在本研究中,我们旨在探索GLI2中10个罕见病例特异性错义突变和GLI3中4个错义突变的生物学功能,这些突变先前在来自中国山东省的412名先天性心脏病(CHD)患者和213名正常对照的队列中进行了筛选。方法:使用双荧光素酶报告基因分析来评估GLI2和GLI3中这些突变对HEK293T细胞中sonic Hedgehog信号通路活性的影响。使用蛋白质印迹在HEK293T细胞中检测突变型和野生型GLI2和GLI3之间的蛋白质水平差异。结果:双荧光素酶报告基因分析显示,与野生型GLI2蛋白相比,p.A1113V显著增加了sonic Hedgehog信号通路的激活,而p.H78P和p.I1451S没有显著影响。其他突变在很大程度上降低了激活效果。与野生型GLI3蛋白相比,在四个突变中,只有p.A286V显著降低了对SHH信号通路的激活作用。蛋白质印迹数据显示GLI2 p.G716V、GLI2 p.K736N、GLI2P.I1451S和GLI3 p.A286V的表达减少,而其余突变没有显著影响。结论:参与CHD的突变GLI2 c.2147G>T(p.G716V)、GLI2 c.2208G>c(p.K736N)和GLI3 c.857C>T(p.A286V)影响sonic Hedgehog信号通路的调节;因此,GLI2和GLI3中这些罕见的错义突变可能会增加CHD的风险。
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引用次数: 0
Pregnancy outcomes of four different cycle protocols for frozen embryo transfer: a large retrospective cohort study 冷冻胚胎移植四种不同周期方案的妊娠结局:一项大型回顾性队列研究
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-10-25 DOI: 10.1097/RD9.0000000000000052
Yue Qian, Qi Wan, Xiao-Qing Bu, Tian Li, Xiaojun Tang, Yan Jia, Qian Feng, Xing-yu Lv, Xiang-Qian Meng, Yin Yang, Yuchun Ding, L. Geng, Min Xia, Zhao-hui Zhong
Objective: To evaluate the pregnancy outcomes of the four endometrial preparation protocols for people undergoing frozen-thawed embryo transfer (FET), including natural cycle (NC), hormone replacement therapy cycle (HRT), gonadotropin-releasing hormone agonist artificial cycle (GAC), and ovarian stimulation cycle (OC). Methods: This retrospective cohort study enrolled 10,333 cycles of frozen embryo transfer performed at Xinan Gynecological Hospital in Sichuan, China, from January 2018 to December 2018. The patient’s baseline characteristics and pregnancy outcomes were extracted from the medical record system. Pregnancy outcomes were compared among the four groups and multiple logistic regression models were used to adjust for the confounding factors. Results: After adjusting for covariates, multiple logistic regression analysis showed no statistical significance in pregnancy outcomes in the HRT group, GAC group, and OC group compared to the NC group in the entire population. The adjusted odds ratio of live birth was 0.976 (95% confidence interval [CI] 0.837–1.138) for the HRT group, 0.959 (95% confidence interval 0.797–1.152) for the GAC group, and 0.909 (95% confidence interval 0.763–1.083) for the OC group. Conclusions: The natural protocol had comparable pregnancy outcomes compared to the other three endometrial preparation protocols in the overall FET population. More high-quality prospective randomized controlled trials are required to assess the efficacy of the four protocols and explore the optimal one.
目的:评估接受冻融胚胎移植(FET)的人的四种子宫内膜准备方案的妊娠结局,包括自然周期(NC)、激素替代治疗周期(HRT)、促性腺激素释放激素激动剂人工周期(GAC)和卵巢刺激周期(OC)。方法:本回顾性队列研究纳入了2018年1月至2018年12月在中国四川省西安妇科医院进行的10333个冷冻胚胎移植周期。从病历系统中提取患者的基线特征和妊娠结局。比较四组的妊娠结局,并使用多元逻辑回归模型对混杂因素进行调整。结果:在校正协变量后,多元逻辑回归分析显示,在整个人群中,HRT组、GAC组和OC组的妊娠结局与NC组相比没有统计学意义。HRT组的活产调整比值比为0.976(95%置信区间[CI]0.837–1.138),GAC组为0.959(95%可信区间0.797–1.152),OC组为0.909(95%置信间隔0.763–1.083)。结论:在整个FET人群中,与其他三种子宫内膜制备方案相比,自然方案具有可比的妊娠结局。需要更多高质量的前瞻性随机对照试验来评估四种方案的疗效并探索最佳方案。
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引用次数: 0
Association of sleep characteristics and night shift work with self-reported diagnosis of polycystic ovary syndrome: a questionnaire-based cross-sectional study 睡眠特征和夜班工作与多囊卵巢综合征自我报告诊断的关联:一项基于问卷的横断面研究
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-10-21 DOI: 10.1097/RD9.0000000000000051
Shuyi Shao, Huanhuan Zhao, Zhi-ying Lu, Xiaorong Lei, Ying Zhang
Objective: To examine the association between sleep characteristics and night shift work and the risk of polycystic ovary syndrome (PCOS) in Chinese women and to investigate their relationship with infertility in PCOS. Methods: From March 21, 2021 to April 31, 2021, 3927 Chinese women with or without PCOS were recruited online. All participants completed WeChat-based electronic questionnaires. Sleep characteristics were measured using the Pittsburgh sleep quality index. Results: A total of 2871 women were included in the final analysis. Sleep duration (odds ratio [OR], 0.857; 95% confidence interval [CI], 0.763–0.963), sleep midpoint (OR, 1.142; 95% CI, 1.049–1.244), sleep disturbance (OR, 1.320; 95% CI, 0.957–1.146), daytime dysfunction (OR, 1.136; 95% CI, 1.030–1.253), and night shift work (OR, 1.628; 95% CI, 1.264–2.097) were associated with a higher risk of PCOS. After adjusting for confounders, including age, body mass index, smoking status, and coffee and tea drinking status, sleep disturbance (OR, 1.314; 95% CI, 1.111–1.555), daytime dysfunction (OR, 1.143; 95% CI, 1.034–1.264), and night shift work (OR, 1.800; 95% CI, 1.388–2.333) remained associated. In addition, sleep disturbance (OR, 1.887; 95% CI, 1.400–2.542) and subjective sleep quality (OR, 1.299; 95% CI, 1.037–1.627) were associated with infertility in women with PCOS, and sleep disturbance (OR, 1.750; 95% CI, 1.281–2.390) remained significant after adjusting for confounders. Conclusions: Sleep disturbance, daytime dysfunction, and night shift work are significantly associated with PCOS. Screening for sleep disturbances and providing appropriate treatment could be potential strategies for managing PCOS and its long-term complications.
目的:探讨中国女性睡眠特征与夜班工作与多囊卵巢综合征(PCOS)发病风险的关系,并探讨其与PCOS患者不孕的关系。方法:于2021年3月21日至2021年4月31日,在线招募3927名患有或未患有PCOS的中国女性。所有参与者都完成了基于微信的电子问卷。使用匹兹堡睡眠质量指数来测量睡眠特征。结果:共有2871名女性纳入最终分析。睡眠时间(优势比[OR], 0.857;95%可信区间[CI], 0.763-0.963),睡眠中点(OR, 1.142;95% CI, 1.049-1.244),睡眠障碍(OR, 1.320;95% CI, 0.957-1.146),日间功能障碍(OR, 1.136;95% CI, 1.030-1.253)和夜班工作(OR, 1.628;95% CI, 1.264-2.097)与PCOS的高风险相关。在调整混杂因素(包括年龄、体重指数、吸烟状况、咖啡和茶饮用状况)后,睡眠障碍(OR, 1.314;95% CI, 1.111-1.555),日间功能障碍(OR, 1.143;95% CI, 1.034-1.264),夜班工作(OR, 1.800;95% CI, 1.388-2.333)仍然相关。此外,睡眠障碍(OR, 1.887;95% CI, 1.400-2.542)和主观睡眠质量(OR, 1.299;95% CI, 1.037-1.627)与PCOS患者不孕和睡眠障碍相关(OR, 1.750;95% CI, 1.281-2.390)在校正混杂因素后仍然显著。结论:睡眠障碍、日间功能障碍和夜班工作与PCOS显著相关。筛查睡眠障碍并提供适当的治疗可能是治疗多囊卵巢综合征及其长期并发症的潜在策略。
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引用次数: 0
The perivascular niche of endometrial mesenchymal stromal/stem-like cells 子宫内膜间充质基质/干细胞样细胞的血管周围生态位
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000038
R. Chan, Tian-Qi Li, Sisi Zhang, Yuan Fang, Jingxuan Xu
Human endometrium is a unique adult tissue that undergoes cyclical shedding, repair, and regeneration during a woman’s reproductive life. Over the past 2 decades, tremendous progress has been made towards the identification and characterization of endometrial stromal stem/progenitor cells . The substantial regeneration of vascularized stroma in the endometrium during the proliferative stages of each menstrual cycle is likely to be mediated by endometrial mesenchymal stromal/stem cells. This review focuses on the perivascular niche for CD140b+CD146+ pericytes and SUSD2+ perivascular cells. The identity, characteristics, and underlying mechanisms of uterine regeneration are also discussed.
人类子宫内膜是一种独特的成年组织,在女性的生殖生活中经历周期性脱落、修复和再生。在过去的20年里,在子宫内膜基质干/祖细胞的鉴定和表征方面取得了巨大进展。在每个月经周期的增殖阶段,子宫内膜血管化基质的实质性再生可能是由子宫内膜间充质基质/干细胞介导的。这篇综述的重点是CD140b+CD146+周细胞和SUSD2+血管周围细胞的血管周围小生境。还讨论了子宫再生的特性、特征和潜在机制。
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引用次数: 0
Reliability and validity of generalized anxiety disorder 7-item scale in early pregnant women 早期妊娠妇女广泛性焦虑障碍7项量表的信度和效度
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000046
Li-li Gong, Xiaodi Xie, Si-Tong Liu, Weihong Hu, Yu-Jie Niu, Yi Sun, Jun-sheng Liu, X. Xia
Objective: This study aimed to evaluate the structural reliability and validity of generalized anxiety disorder 7-item (GAD-7) scale in early pregnant women. Methods: In this cross-sectional study, 30,823 patients in early pregnancy registered in the Obstetrics and Gynecology Hospital of Fudan University completed the GAD-7 scale and patient health questionnaire-9 item (PHQ-9). The discriminative ability, reliability, construct validity, and criterion validity were assessed to evaluate the psychometric properties and factor structures. Items with a discrimination parameter (α) of <0.65, factor loading of <0.30, or cross loading of >0.40 in two or more factors simultaneously were deleted from the scale. Results: All GAD-7 scale items exhibited a high discrimination power. The reliability of the GAD-7 scale was good (Cronbach’s alpha coefficient = 0.891). Exploratory factor analysis extracted one factor with eigenvalues of greater than 1.0, which explained 61.930% of the common variance. Confirmatory factor analysis confirmed that the one-factor structure fitted the data well. The correlation coefficient with the PHQ-9 was 0.639. Conclusion: The Chinese version of the GAD-7 scale can be used as a screening tool for early pregnant women. It performs well in terms of discriminative ability, reliability, construct validity, and criterion validity. Pregnant women who screen positive may require more attention and investigation to confirm the presence of generalized anxiety disorder.
目的:本研究旨在评估广泛性焦虑症7项量表在早期孕妇中的结构信度和有效性。方法:对复旦大学妇产科医院登记的30823例早孕患者进行横断面调查,填写GAD-7量表和患者健康问卷-9项(PHQ-9)。通过判别能力、信度、构念有效性和标准有效性来评估心理测量特性和因素结构。同时在两个或多个因素中判别参数(α)为0.40的项目从量表中删除。结果:所有GAD-7量表项目均表现出较高的辨别力。GAD-7量表的信度良好(Cronbachα系数=0.891)。探索性因子分析提取了一个特征值大于1.0的因子,解释了61.930%的共同方差。验证性因子分析证实,单因子结构与数据拟合良好。与PHQ-9的相关系数为0.639。结论:GAD-7量表中文版可作为早期孕妇的筛查工具。它在判别能力、信度、构念有效性和标准有效性方面表现良好。筛查呈阳性的孕妇可能需要更多的关注和调查,以确认是否存在广泛性焦虑症。
{"title":"Reliability and validity of generalized anxiety disorder 7-item scale in early pregnant women","authors":"Li-li Gong, Xiaodi Xie, Si-Tong Liu, Weihong Hu, Yu-Jie Niu, Yi Sun, Jun-sheng Liu, X. Xia","doi":"10.1097/RD9.0000000000000046","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000046","url":null,"abstract":"Objective: This study aimed to evaluate the structural reliability and validity of generalized anxiety disorder 7-item (GAD-7) scale in early pregnant women. Methods: In this cross-sectional study, 30,823 patients in early pregnancy registered in the Obstetrics and Gynecology Hospital of Fudan University completed the GAD-7 scale and patient health questionnaire-9 item (PHQ-9). The discriminative ability, reliability, construct validity, and criterion validity were assessed to evaluate the psychometric properties and factor structures. Items with a discrimination parameter (α) of <0.65, factor loading of <0.30, or cross loading of >0.40 in two or more factors simultaneously were deleted from the scale. Results: All GAD-7 scale items exhibited a high discrimination power. The reliability of the GAD-7 scale was good (Cronbach’s alpha coefficient = 0.891). Exploratory factor analysis extracted one factor with eigenvalues of greater than 1.0, which explained 61.930% of the common variance. Confirmatory factor analysis confirmed that the one-factor structure fitted the data well. The correlation coefficient with the PHQ-9 was 0.639. Conclusion: The Chinese version of the GAD-7 scale can be used as a screening tool for early pregnant women. It performs well in terms of discriminative ability, reliability, construct validity, and criterion validity. Pregnant women who screen positive may require more attention and investigation to confirm the presence of generalized anxiety disorder.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"249 - 253"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43270023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation 评估一个配偶均携带常染色体易位的家族的染色体分离
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000041
I. L. Puppo, Z. Tonyan, A. Saifitdinova, J. A. Loginova, A. Kinunen, A. N. Panina, Julia R. Pastuhova, O. A. Leonteva, O. Chiryaeva, Olga V. Маlysheva, O. Glotov, I. V. Poliakova, A. Tikhonov, T. Vavilova, I. Menshikova, Elvira V. Isakova, A. Glotov, Natalya K. Bichevaya
{"title":"Evaluating Chromosomal Segregation in a Family Where Both Spouses Carry an Autosomal Translocation","authors":"I. L. Puppo, Z. Tonyan, A. Saifitdinova, J. A. Loginova, A. Kinunen, A. N. Panina, Julia R. Pastuhova, O. A. Leonteva, O. Chiryaeva, Olga V. Маlysheva, O. Glotov, I. V. Poliakova, A. Tikhonov, T. Vavilova, I. Menshikova, Elvira V. Isakova, A. Glotov, Natalya K. Bichevaya","doi":"10.1097/rd9.0000000000000041","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000041","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49459362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Single-cell analysis in endometrial research 子宫内膜研究中的单细胞分析
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000037
Dan Cao, Jue Wang, Yuan Yao, W. Yeung
Human endometrium undergoes dynamic shedding, regeneration, and differentiation, with remarkable changes in gene expression across the menstrual cycle. The development of a receptive endometrium within a particular time frame (window of implantation) is critical for successful embryo implantation. To understand the role of the endometrium in human fertility and regenerative biology, transcriptomic characterization of the endometrium has traditionally been pursued at the tissue bulk level using microarray and next-generation sequencing. Owing to the rapid development of single-cell RNA sequencing technology, researchers have uncovered heterogeneous molecular activities in individual cells masked by bulk analysis. In this review, we opted to mainly focus on single-cell analysis in endometrial research and introduce basic knowledge of single-cell RNA sequencing and the isolation of single cells from endometrial cells. We also discussed how single-cell approaches are used to understand the transformation and regeneration of the endometrium physiologically and uncover endometrial factors that contribute to uterine pathology.
人类子宫内膜经历了动态脱落、再生和分化,在整个月经周期中基因表达发生了显著变化。在特定的时间框架内(植入窗口)发育一个接受子宫内膜是成功胚胎植入的关键。为了了解子宫内膜在人类生育和再生生物学中的作用,传统上使用微阵列和下一代测序在组织体水平上追求子宫内膜的转录组学特征。由于单细胞RNA测序技术的快速发展,研究人员已经发现了被大量分析掩盖的单个细胞中的异质分子活动。在这篇综述中,我们选择以子宫内膜研究中的单细胞分析为重点,介绍单细胞RNA测序和子宫内膜单细胞分离的基本知识。我们还讨论了如何使用单细胞方法从生理上理解子宫内膜的转化和再生,并揭示导致子宫病理的子宫内膜因素。
{"title":"Single-cell analysis in endometrial research","authors":"Dan Cao, Jue Wang, Yuan Yao, W. Yeung","doi":"10.1097/RD9.0000000000000037","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000037","url":null,"abstract":"Human endometrium undergoes dynamic shedding, regeneration, and differentiation, with remarkable changes in gene expression across the menstrual cycle. The development of a receptive endometrium within a particular time frame (window of implantation) is critical for successful embryo implantation. To understand the role of the endometrium in human fertility and regenerative biology, transcriptomic characterization of the endometrium has traditionally been pursued at the tissue bulk level using microarray and next-generation sequencing. Owing to the rapid development of single-cell RNA sequencing technology, researchers have uncovered heterogeneous molecular activities in individual cells masked by bulk analysis. In this review, we opted to mainly focus on single-cell analysis in endometrial research and introduce basic knowledge of single-cell RNA sequencing and the isolation of single cells from endometrial cells. We also discussed how single-cell approaches are used to understand the transformation and regeneration of the endometrium physiologically and uncover endometrial factors that contribute to uterine pathology.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"197 - 207"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47215743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Single-cell sequencing analysis of the maternal–fetal interface 母胎界面单细胞测序分析
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000045
Pei-Ru Wei, Yi-Hua Yang
{"title":"Single-cell sequencing analysis of the maternal–fetal interface","authors":"Pei-Ru Wei, Yi-Hua Yang","doi":"10.1097/rd9.0000000000000045","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000045","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42831775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 1
Preimplantation genetic testing for aneuploidy improves clinical outcomes in patients with repeated implantation failure 非整倍体植入前基因检测可改善重复植入失败患者的临床结果
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/RD9.0000000000000043
Ruihuan Gu, Jing Fu, Naidong Ge, Zhichao Li, Bin Huang, Yan Xu, Yao-Yu Zou, Lu Li, Yi-juan Sun, Xiao-Xi Sun
Objective: The objective of this study is to study whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcomes of infertile patients with repeated implantation failure (RIF) undergoing frozen-thawed embryo transfer. Methods: This is a retrospective analysis of clinical pregnancy, live birth, miscarriage rates, and obstetric and perinatal outcomes of women with RIF with or without PGT-A. Statistical analyses of categorical data were performed using propensity score matching (PSM), χ2 test, and Student’s t test. Results: We enrolled 466 patients with RIF, of which, 209 were in the RIF-PGT-A group. The rate of euploid blastocysts was significantly associated with age and day 5 or 6 blastocysts. There were significant differences between the RIF-PGT-A group and the RIF-non-PGT-A group across several parameters. After PSM, positive serum human chorionic gonadotropin (56.9% and 33.9%, P <0.01), clinical pregnancy (49.5% and 31.2%, P <0.01), live birth (43.1% and 25.7%, P <0.01), and fetal heart rates (50.0% and 29.8%, P <0.01) per transfer were significantly higher in the RIF-PGT-A group. Conclusion: Elective single-embryo transfer PGT-A can minimize the risk of obstetric and perinatal outcomes, especially fetal body weight, in women with RIF. Additionally, PGT-A can significantly improve pregnancy and live birth rates.
目的:本研究的目的是研究胚胎植入前非整倍体基因检测(PGT-A)是否能改善反复着床失败(RIF)患者进行冻融胚胎移植的临床结果。方法:回顾性分析有或没有PGT-A的RIF妇女的临床妊娠、活产、流产率、产科和围产期结局。分类资料的统计分析采用倾向评分匹配(PSM)、χ2检验和Student’s t检验。结果:我们纳入了466例RIF患者,其中209例为RIF- pgt - a组。整倍体囊胚率与年龄和第5天或第6天囊胚率显著相关。RIF-PGT-A组和rif -非pgt - a组在几个参数上存在显著差异。PSM后,RIF-PGT-A组血清人绒毛膜促性腺激素阳性率(56.9%和33.9%,P <0.01)、临床妊娠率(49.5%和31.2%,P <0.01)、活产率(43.1%和25.7%,P <0.01)和胎心率(50.0%和29.8%,P <0.01)均显著高于PSM组。结论:选择性单胚胎移植PGT-A可以将RIF妇女的产科和围产期结局,特别是胎儿体重的风险降至最低。此外,PGT-A可以显著提高妊娠率和活产率。
{"title":"Preimplantation genetic testing for aneuploidy improves clinical outcomes in patients with repeated implantation failure","authors":"Ruihuan Gu, Jing Fu, Naidong Ge, Zhichao Li, Bin Huang, Yan Xu, Yao-Yu Zou, Lu Li, Yi-juan Sun, Xiao-Xi Sun","doi":"10.1097/RD9.0000000000000043","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000043","url":null,"abstract":"Objective: The objective of this study is to study whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcomes of infertile patients with repeated implantation failure (RIF) undergoing frozen-thawed embryo transfer. Methods: This is a retrospective analysis of clinical pregnancy, live birth, miscarriage rates, and obstetric and perinatal outcomes of women with RIF with or without PGT-A. Statistical analyses of categorical data were performed using propensity score matching (PSM), χ2 test, and Student’s t test. Results: We enrolled 466 patients with RIF, of which, 209 were in the RIF-PGT-A group. The rate of euploid blastocysts was significantly associated with age and day 5 or 6 blastocysts. There were significant differences between the RIF-PGT-A group and the RIF-non-PGT-A group across several parameters. After PSM, positive serum human chorionic gonadotropin (56.9% and 33.9%, P <0.01), clinical pregnancy (49.5% and 31.2%, P <0.01), live birth (43.1% and 25.7%, P <0.01), and fetal heart rates (50.0% and 29.8%, P <0.01) per transfer were significantly higher in the RIF-PGT-A group. Conclusion: Elective single-embryo transfer PGT-A can minimize the risk of obstetric and perinatal outcomes, especially fetal body weight, in women with RIF. Additionally, PGT-A can significantly improve pregnancy and live birth rates.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"12 - 19"},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46433089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Blastocyst-like embryo surrogates from stem cells in implantation models 胚胎植入模型中干细胞的芽细胞样胚胎替代物
IF 0.8 4区 医学 Q4 OBSTETRICS & GYNECOLOGY Pub Date : 2022-09-21 DOI: 10.1097/rd9.0000000000000042
S. Tian, H. Ruan, W. Yeung, Yin-Lau Lee
{"title":"Blastocyst-like embryo surrogates from stem cells in implantation models","authors":"S. Tian, H. Ruan, W. Yeung, Yin-Lau Lee","doi":"10.1097/rd9.0000000000000042","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000042","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44118240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
期刊
Reproductive and Developmental Medicine
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