دورية أكاديمية

高龄孕妇应用快速产前诊断方法的可行性 ; Feasibility of rapid prenatal diagnosis in advanced maternal age women

التفاصيل البيبلوغرافية
العنوان: 高龄孕妇应用快速产前诊断方法的可行性 ; Feasibility of rapid prenatal diagnosis in advanced maternal age women
المؤلفون: 马京梅, 潘虹, 付杰, 于丽, 王玲, 杨慧霞
المساهمون: 100034,北京大学第一医院妇产科
المصدر: 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhwcyxzz201404007.aspxTest
بيانات النشر: 中华围产医学杂志
سنة النشر: 2014
المجموعة: Peking University Institutional Repository (PKU IR) / 北京大学机构知识库
مصطلحات موضوعية: 产前诊断, 羊膜腔穿刺术, 核型分析, 原位杂交,荧光, 妊娠中期, Prenatal diagnosis, Amniocentesis, Karyotyping, In situ hybridization,fluorescence, Pregnancy trimester,second
الوصف: 目的 探讨在单纯高龄或高龄合并血清学筛查高危人群中单独应用快速产前诊断的理论可行性. 方法 回顾性分析2001年1月1日至2012年12月31日在北京大学第一医院进行妊娠中期羊膜腔穿刺术产前诊断的孕妇资料.2004年1月至2008年12月采用二联法,包括甲胎蛋白(α-fetoprotein,AFP)和游离β-人绒毛膜促性腺激素(β-human chorionic gonadotrophin,hCG),界值为1∶270; 2009年1月起,采用血清学三联法,即二联法+游离雌三醇(uncojugated estriol,uE3),界值为1∶340.按照预产期时的年龄,≥35岁者为高龄组,<35岁者为非高龄组.分析这些孕妇的年龄、指征、核型分析结果和妊娠结局.采用x2检验或Fisher精确概率法进行统计学分析. 结果 共9 606例行羊膜腔穿刺的孕妇纳入本研究,共检出染色体异常222例(2.3%),其中快速方法不可检出的异常占23.0%(51/222).单纯高龄者和高龄合并血清学筛查高危者与单纯血清学筛查高危者相比,在快速诊断可检出的染色体异常方面,检出率分别为1.8%(57/3 177)、1.4%(13/925)和1.8% (57/3 250),差异无统计学意义(x2=0.662,P>0.05).而在不可检出的染色体异常中,3部分孕妇的不可检出率分别为0.5% (15/3 177)、0.3%(3/925)和0.5%(16/3 250),差异无统计学意义(x2=0.452,P>0.05).快速产前诊断不可检出的指征中以单纯有不良妊娠病史/家族史/染色体病史者(16.4%,9/55)及高龄合并超声异常者(4.4%,3/68)最为多见.结论 单独高龄或高龄仅合并血清学筛查高危者,如不伴有超声异常,常见染色体异常检测效率类似于低龄高危人群,可整合到高效的筛查-快速产前诊断-传统核型诊断的产前诊断模式中. ; Objective To analyze the feasibility of rapid prenatal diagnosis in the advanced maternal age women with or without positive serologic screening results.Methods We conducted a retrospective study of the women who underwent a mid-trimester amniocentesis in Peking University First Hospital from January 1,2001 to December 31,2012.Maternal age,indication for invasive prenatal diagnosis,karyotyping and pregnancy outcome were documented.Using a young population with high risk in serologic screening (S) as the standard,chromosome abnormalities in the advanced maternal age (A) group and the advanced maternal age with high risk in serologic screening (A+S) group were compared with the S group.Chromosome abnormalities were divided into detectable (D) and undetectable (U) during rapid prenatal diagnosis.Results Of 9 606 cases,222 (2.3%,222/9 606) cases with chromosome abnormalities were detected,23.0% (51/222) of which were undetectable by rapid prenatal diagnosis.The detection rate of detectable chromosome abnormalities was 1.8% (57/3 177) in group A,1.4%(13/925) in group A+S,and 1.8%(57/3 250) in group S (x2=0.662,P>0.05).The rate of undetectable chromosome abnormalities was 0.5% (15/3 177) in group A,0.3% (3/925) in group ...
نوع الوثيقة: journal/newspaper
اللغة: Chinese
تدمد: 1007-9408
العلاقة: 中华围产医学杂志.2014,17,(4),240-243.; 1156971; http://hdl.handle.net/20.500.11897/122769Test
DOI: 10.3760/cma.j.issn.1007-9408.2014.04.007
الإتاحة: https://doi.org/20.500.11897/122769Test
https://doi.org/10.3760/cma.j.issn.1007-9408.2014.04.007Test
https://hdl.handle.net/20.500.11897/122769Test
رقم الانضمام: edsbas.46BC4314
قاعدة البيانات: BASE
الوصف
تدمد:10079408
DOI:10.3760/cma.j.issn.1007-9408.2014.04.007