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APPLICATION OF GENETIC DEAFNESS GENE CHIP FOR DETECTION OF GENE MUTATION OF DEAFNESS IN PREGNANT WOMEN

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Journal of Otology 2014年第2期9卷 97-100页

作者： CHANG Liang ZHONG Su zhao Nan LIU Ping zhao yangyu QIAO Jie Department of Obstetrics and Gynecology Peking University Third Hospital Key Laboratory of Assisted Reproduction Ministry of Education Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology

Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom- ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 （35delG, 176del16bp, 235delC, 299delAT）, GJB3 （C538T） ,SLC26A4 （ IVS72A〉G, A2168G） and mito- chondrial DNA 12S rRNA （A1555G, C1494T） . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected, detection of deafness gene mutation carri- ers in 24 cases（4.2%）, including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took further genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta- tion has a high carrier rate in pregnant women group, 235delC and IVS7-2A〉G heterozygous mutations are common.

关键词： Gene chip Hereditary deafness Carrier rate Mutation detection

母婴呼吸道合胞病毒感染预防指南(2025年版)

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中华围产医学杂志 2025年第1期28卷 3-11页

作者：中华医学会围产医学分会韩彤妍杨慧霞朴梅花赵扬玉周鹏翔不详北京大学第三医院儿科北京100191 北京大学第一医院妇产生殖医学中心北京100034 北京大学第三医院妇产科北京100191 北京大学第三医院

呼吸道合胞病毒(respiratory syncytial virus,RSV)是造成母婴人群重大疾病负担的重要病原体,目前尚无针对此类特殊人群的RSV感染预防指南。基于当前最佳证据、结合医师经验和患者家属意愿,中华医学会围产医学分会制订了本指南。本指南... 详细信息

呼吸道合胞病毒(respiratory syncytial virus,RSV)是造成母婴人群重大疾病负担的重要病原体,目前尚无针对此类特殊人群的RSV感染预防指南。基于当前最佳证据、结合医师经验和患者家属意愿,中华医学会围产医学分会制订了本指南。本指南针对8个临床问题形成了15条推荐意见,涵盖了母婴人群预防RSV感染的非药物预防、药物预防和疫苗预防措施等内容,旨在全面提升此类高风险人群的RSV感染防控水平。

关键词：呼吸道合胞病毒孕妇新生儿婴儿预防

Emphasis on clinical management of placenta accreta without uterine scar

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Gynecology and Obstetrics Clinical Medicine 2023年第2期3卷 76-78页

作者： Yuanyuan Wang yangyu zhao Department of Obstetrics and Gynecology Peking University Third HospitalBeijing100191China National Clinical Research Center for Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China

Placenta accreta spectrum(PAS)refers to an atypical adherence of villous tissue to the uterine wall and includes the medical conditions of placenta accreta,increta,and *** can result in significant bleeding and may ne... 详细信息

关键词： uterine mortality bleeding

Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China:a retrospective study of 189,809 cases

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Science China(Life Sciences) 2020年第3期63卷 319-328页

作者： Chan Tian Tao Deng Xiuhuang Zhu Chen Gong yangyu zhao Yuan Wei Rong Li Xiufeng Xu Miaonan He Zhiwei Zhang Jing Cheng Mol BenWillem Jie Qiao Center for Reproductive Medicine Department of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China National Clinical Research Center for Obstetrics and Gynecology Beijing 100191China Key Laboratory of Assisted Reproduction(Peking University) Ministry of EducationBeijing 100191China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology Beijing 100191China Beijing CapitalBio Medical Laboratory Beijing 101111China Department of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China National Engineering Research Center for Beijing Biochip Technology Beijing 102206China Department of Biomedical Engineering Tsinghua University School of MedicineBeijing 100084China Robinson Institute School of Paediatrics and Reproductive HealthUniversity of AdelaideSAAustralia Beijing Advanced Innovation Center for Genomic Beijing 100871China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China

In China,the medical guidelines recommend performing noninvasive prenatal testing(NIPT)with caution for pregnant women aged 35 years or ***,the Mother and Child Health Care Law suggests that all primiparous women whose age is older than 35 years undergo prenatal *** two inconsistent suggestions/recommendations have made obstetricians confused about whether to offer NIPT to these older pregnant *** face this issue and find out the solution we performed a retrospective study of 189,809 NIPT samples collected from 28 provincial-leveled administrative units in *** 1,564 women with high-risk pregnancies who underwent NIPT,459(29.3%)did not participate in *** compound sensitivity and specificity of NIPT for trisomies 21,18 and 13 detection was 99.1%(95%CI,98.0%–99.6%)and 99.9%(95%CI,98.8%–99.9%),*** secundiparous women,NIPT showed high sensitivity and specificity similar to that in primiparous *** observed risk for trisomies 21 and 18 significantly increased when the maternal age was 39 and *** the publication of the current NIPT policy,the follow-up rate at our center was 97.9%;however,a large number of women are not in maternal and infant care networks nationwide,and that makes the follow-up rate outside our center relatively *** study shows that to balance the prevention of major aneuploidies and the limited resources for prenatal diagnosis,the cut-off age of 35 for invasive prenatal diagnosis might be *** the NIPT guidelines are well written,how to practice it effectively,especially in less industrialized areas,is worth discussing.

关键词： NIPT risk for trisomy NIPT policy in China prenatal diagnosis maternal age

A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis

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Journal of Genetics and Genomics 2020年第5期47卷 281-284页

作者： Jiaxin Li Yuqian Wang Xiaohui Zhu Yanli Nie Ying Kuo Shuo Guan Jin Huang Ying Lian yangyu zhao Rong Li Yuan Wei Jie Qiao Liying Yan Department of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationBeijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive TechnologyBeijing 100191China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100191China Beijing Advanced Innovation Center for Genomics Peking UniversityBeijing 100191China

Congenital contractural arachnodactyly(CCA,OMIM:121050),also known as Beals syndrome,belongs to a group of rare autosomal dominant(AD)diseases of connective tissue(Maslen et al.,1997).People with CCA share many distinguishing features,such as arachnodactyly,camp tod actyly,multiple joint contractures(especially finger,elbow,and knee joints),crumpled ears,scoliosis,pectus deformities,and muscular hypoplasia(Jurko et al.,2013).It exhibits no specific geographic or ethnic predilection(Frederic et al.,2009).

关键词： al. diagnosis congenital

Chinese Population Reference Curves for Ultrasound-Measured Amniotic Fluid Deepest Vertical Pocket in Dichorionic Twin Pregnancies,and Their Associations With Pregnancy Outcomes

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Maternal-Fetal Medicine 2024年第1期6卷 29-36页

作者： Zhengxin Lyu Tianchen Wu Shan Lu Pengbo Yuan yangyu zhao Yuan Wei Department of Obstetrics and Gynecology Peking University Third HospitalBeijing 100191China

Objective:To establish the Chinese population's amniotic fluid deepest vertical pocket(DVP)reference curves for dichorionic twin pregnancies and to investigate DVP links with adverse perinatal ***:This retrospective cohort study,conducted at Peking University Third Hospital from August 2011 to December 2020,used data from 375 women aged 20 to 45 years who had dichorionic twin pregnancies that were confirmed through first-trimester *** exclusions,reference curves were developed using 318 women with 3,299 DVP scans,and the data analyzed included maternal demographics,pregnancy outcomes,ultrasound measurements,and neonatal *** were assessed via ultrasound at regular intervals and grouped by gestational age(GA)for *** mixed models were used to create amniotic fluid reference *** between abnormalities and adverse perinatal outcomes were examined using Chi-squared or Fisher's exact *** regression provided both crude and adjusted odds ratios,adjusting for pre-pregnancy weight,age,ethnicity,parity,and conception *** was set at P<0.05 with 95%confidence intervals(CI),and the analyses were conducted using SPSS ver.26.0(IBM Corp.,Armonk,NY)and SAS ver.9.4(SAS Institute Inc.,Cary,NC,USA)***:DVP increased from the first trimester to a maximum at 26 weeks(95%confidence interval(CI),2.7–8.3 cm for twin 1 and 2.8–7.9 cm for twin 2)and then decreased gradually toward *** between twins 1 and 2 were significant after 26 weeks(95%CI for twin 1:5.3,5.5;95%CI for twin 2:4.4,4.5;P<0.010).Polyhydramnios of twin 1 increased the risk of large for *** of twin 1 increased the risk of small for *** of twin 2 increased the risk of small for GA,premature birth,and neonatal *** of twin 2 increased the risk of preeclampsia,hypertensive disorder complicating pregnancy,and premature rupture of ***:Reference curves

关键词： Amniotic fluid Amniotic fluid deepest vertical pocket Reference curve Dichorionic twin Pregnancy outcome Ultrasound examination

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重视对胎儿医学的研究

中华妇产科杂志 2016年第1期51卷 10-12页

作者：赵扬玉北京大学第三医院妇产科 100191

随着胎儿即患者的理念不断铺陈，胎儿医学在中国大陆正逐渐规范化。近年来，胎儿医学借力于信息科技平台得到了迅猛的发展。胎儿医学管理包括胎儿的宫内诊断、遗传咨询、宫内监测及评估、宫内治疗等方面，如何进行系统管理以降低胎儿及... 详细信息

随着胎儿即患者的理念不断铺陈，胎儿医学在中国大陆正逐渐规范化。近年来，胎儿医学借力于信息科技平台得到了迅猛的发展。胎儿医学管理包括胎儿的宫内诊断、遗传咨询、宫内监测及评估、宫内治疗等方面，如何进行系统管理以降低胎儿及新生儿近、远期并发症，并提高生命质量是胎儿医学所追求的目标。

关键词：胎儿医学医学管理远期并发症中国大陆宫内诊断遗传咨询宫内监测宫内治疗

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肠道菌群与子痫前期相关性的研究进展

中华围产医学杂志 2018年第7期21卷 479-482页

作者：赵诚王伽略赵扬玉北京大学第三医院妇产科 100191

肠道菌群在人体的代谢和免疫方面发挥着非常重要的调节作用。如果肠道菌群失调，会造成肠黏膜屏障破坏及机体免疫调节异常，从而引起全身炎症反应、氧化应激过度及免疫耐受失衡，在子痫前期的发病过程中，上述因素都发挥着重要的作用。... 详细信息

肠道菌群在人体的代谢和免疫方面发挥着非常重要的调节作用。如果肠道菌群失调，会造成肠黏膜屏障破坏及机体免疫调节异常，从而引起全身炎症反应、氧化应激过度及免疫耐受失衡，在子痫前期的发病过程中，上述因素都发挥着重要的作用。因此，肠道菌群与子痫前期的相关性研究逐渐受到关注，对于揭示子痫前期发病机制提供了新的思路。

关键词：先兆子痫胃肠道微生物组免疫耐受

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含单绒毛膜的三胎妊娠选择性减胎策略评价

中华围产医学杂志 2021年第10期24卷 778-782页

作者：李优魏瑗赵扬玉北京大学第三医院妇产科 100191

与三绒毛膜三胎相比,单绒毛膜三胎和双绒毛膜三胎由于包含了单绒毛膜多胎,并发症风险高,常导致不良妊娠结局。相对于期待治疗,几种常用的减胎策略均可以降低早产率、延长孕周、增加胎儿体重。减去独立胎盘胎儿无法避免单绒毛膜双胎并发... 详细信息

与三绒毛膜三胎相比,单绒毛膜三胎和双绒毛膜三胎由于包含了单绒毛膜多胎,并发症风险高,常导致不良妊娠结局。相对于期待治疗,几种常用的减胎策略均可以降低早产率、延长孕周、增加胎儿体重。减去独立胎盘胎儿无法避免单绒毛膜双胎并发症;减去单绒毛膜双胎之一可能会出现留存胎儿死亡且对术者的技术要求高;减去单绒毛膜双胎结局最好。对单绒毛膜三胎减胎策略的评价仍需要更多研究数据。现就不同的减胎数目、减胎对象和手术方式对单绒毛膜三胎和双绒毛膜三胎妊娠结局的影响进行综述。

关键词：三胎妊娠,三胎妊娠减少,多胎妊娠结局