唐氏综合征的产前筛查
摘要
唐氏综合征是足月新生儿最常见的常染色体病,占先天智力障碍的50%,群体发病率为12.3/万,目前国内外临床上广泛应用母体血清标志物及超声检查等无创性检查指标,结合孕妇年龄、体重等评估妊娠妇女患唐氏综合征胎儿的风险,对筛查阳性者提供产前诊断进行遗传学分析,以减少异常或畸形儿童出生。
参考文献7
-
1郑明明,胡娅莉.唐氏综合征的产前筛查及其进展[J].中国实用妇科与产科杂志,2006,22(5):395-397. 被引量:7
-
2孙振高,连方.唐氏综合征的产前筛查[J].山东卫生,2006(11):55-56. 被引量:1
-
3景春梅,王应雄.唐氏综合征产前筛查的研究进展[J].国外医学(计划生育.生殖健康分册),2006,25(6):314-318. 被引量:3
-
46oodburn SF, Yates JR, Raggatt PR, et al. Second -trimester matemal serum screening using alpha fetoprotein, human ehorioniegonadotropin and unconjugated oestriol: experience of a regional prograrmme[J]. Prenat Diagn, 1994, 14: 391-402.
-
5Pajkrt E, Mol BW. Van Lith Jm Downs syndrome by fetal et al. Screening for nuchal translucency measurement in a high--risk population[J]. Ultrasound Obstet Gynecol. 1998, 12 (3): 156-162.
-
6王铮,黄国香,胡边.唐氏综合征产前筛查方法进展[J].中国优生与遗传杂志,2005,13(4):127-128. 被引量:13
-
7RCOG. The Royal College of Obstetricians and Gynaecologists Report. RCOG,Working Party on Markers and the Detection of Down S Syndrome, London: RCOG1993: 8-14.
二级参考文献48
-
1Chao AS, Chung CL,Wu CD,et al. Second trimester maternal serum screening using alpha fetoprotein, free beta human chorionic gonadotropin and maternal age specific risk: result of chromosomal abnormalities detected in screen positive for Down syndrome in an Asian population[J]. Acta Obstet Gynecol Scand , 1999,78(5):393-397.
-
2Pajkrt E, Mol BW, van Lith JM, et al.Screening for Downs syndrome by fetal nuchal translucency measurement in a high-risk population[J]. Ultrasound Obstet Gynecol,1998,12(3):156-162.
-
3Worteboer JM, Mdewolf TH, Vdrschuren-Bemlmans CC, et al. Treads in live birth prevalence of Down syndrome in the Northern Nether-lands 1987-96:the impact of screening and prenatal diagnosis[J]. Prenat Diagn,2000,20:709-713.
-
4Robert O, Eric J, Gurmit S, et al. Serum screening for Down syndrome and adversa pregnancy outcomes: a case-controlled study[J]. Prenat Diagn, 2000,20:96-99.
-
5Wenstrom KD.Second trimester maternal serum CA-125 versus triol in the multiple-marker screening test for Down syndrome[J]. Obster Gynicol,1997.89(3):359-363.
-
6Bogart MH, Pandian MR, Jones OW, et al. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities[J]. Prenat Diagn,1987,7:623-630.
-
7Goodburn SF, Yates JR, Raggatt PR, et al. Second-trimester maternal serum screening using alpha-fetoprotein, human chorionic gonadotropin and unconjugated oestriol: experience of a regional programme[J]. Prenat Diagn,1994,14:391-402.
-
8Bersinger NA, Brizot ML, Johnson A, et al. First trimester maternal serum pregnancy associated plasma protein A and pregnancy specific betal -glycoprotein in fetal trisomies[J]. Br J Obstet Gynecol,1994,101:970-974.
-
9Wald NJ, Cuckle HS, Denson JW, et al. Maternal serum screening for Down's syndrome in early pregnancy[J]. BMJ,1988,297:883-887.
-
10McDuffie RS Jr , Haverhamp AD, Stark CF , et al . Prenatal screening using maternal serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol :two-year experience in a health maintenance organization[J]. J Matern Fetal Med,1996,5:70-73.
共引文献19
-
1郭晓玲,钟进,张国华,陈志华,卢海英,梁少联.胎儿染色体异常的产前筛查与诊断[J].中国优生与遗传杂志,2007,15(1):39-40. 被引量:10
-
2索庆丽,胡晞江,姚婷,熊艳文,吴丹丹.唐氏综合征筛查系统筛查效率的分析研究[J].现代预防医学,2007,34(10):1849-1850. 被引量:3
-
3李辉,王德智.唐氏综合征产前筛查的进展[J].中国实用妇科与产科杂志,2008,24(1):8-10. 被引量:12
-
4朱文彪,何桂儿,黄志成,黄霜.两种唐氏综合征产前筛查方法的比较分析[J].国际医药卫生导报,2008,14(5):81-85. 被引量:1
-
5马永红,李志杰.产前诊断医疗法律风险防范——从胎儿颈部透明层检测筛查唐氏综合征技术合规性谈起[J].中国实用妇科与产科杂志,2010,26(4):319-320. 被引量:1
-
6陆丹.孕妇产前筛查及产前诊断35961例[J].实用医学杂志,2010,26(8):1433-1435. 被引量:11
-
7韦家伟,蔡稔,唐宁,韦朔峰,匡欢.唐氏综合征筛查方法比较及孕妇血清指标中位数探讨[J].检验医学与临床,2010,7(11):1034-1036. 被引量:3
-
8黎曼侬,何建萍,杨菊芬,李霖华,雷瑾,赵晓梅,党峰博,陈欣欣.昆明地区孕中期孕妇产前筛查9137例分析[J].中国优生与遗传杂志,2010,18(7):54-55. 被引量:1
-
9勾宗蓉,宋大清.唐氏综合征产前筛查在优生中的作用[J].国际检验医学杂志,2011,32(3):361-363. 被引量:12
-
10陈荔丽,韦波,杜娟,田晓先,张海燕,甘腾华,郑陈光.21-三体综合征产前筛查的研究进展[J].广西医科大学学报,2011,28(3):481-484. 被引量:4
-
1梁万东,毕云天,金龙金,刘永章,李红智,董杰影.2010例遗传咨询患者细胞遗传学分析[J].浙江医学,2005,27(9):693-694. 被引量:1
-
2周欣,汪玉琴,周玉兰,姚力安,王先进,章卉.12例先天性膈疝的产前超声分析[J].宜春学院学报,2008,30(6):93-93.
-
3陈燕,解左平.迟发性胎儿畸形的超声诊断价值及临床意义[J].中国优生与遗传杂志,2015,23(5):96-96. 被引量:1
-
4黄淑珍.335例外周血染色体细胞遗传学分析[J].广东医学,1995,16(4):280-280.
-
5李淑芝,刘金杰,赵春艳.O型与A型双亲生出B型孩子罕见现象的遗传学分析[J].中国输血杂志,2005,18(4):357-357.
-
6陈幼莲.产前筛查与产前诊断中医疗错误的防范[J].特别健康(下),2013(11):351-351.
-
7侯鲁华.超声检查胎儿畸形漏诊原因分析[J].当代临床医刊,2015,28(2):1331-1332.
-
8刘舜辉,刘倚河,郑玉凤,张蓉,吴秀艳.1980例孕中晚期胎儿彩色多普勒超声检查结果回顾性分析[J].实用医技杂志,2006,13(10):1627-1629. 被引量:1
-
9豆少丽.婴幼儿先天性白内障的围手术期护理[J].护理实践与研究,2009,6(19):55-56.
-
10王艺璇.彩色多普勒超声检查在产前诊断中的运用分析[J].卫生职业教育,2009,27(4):148-149. 被引量:1