唐氏综合征的出生干预:产前诊断和植入前遗传学诊断
被引量：1
摘要
唐氏综合征是人类发现最早、最常见的常染色体畸变疾病。在产前发现唐氏综合征胎儿并阻止其出生,一直是围产优生和产前诊断的重要任务。目前,控制唐氏综合征最主要的方法就是对高危妊娠妇女进行产前诊断。同时,近年来植入前遗传学诊断(PGD)的不断发展,为唐氏综合征的出生干预提供了一种新的方法。这里,对目前唐氏综合征的产前诊断和PGD情况作一简要综述。
参考文献20
-
1Bryant LD, Green JM, Newis on J. Prenatal screening for Down's syn drome: Some psychosocial implications ofa' screening for all' policy.Public Health,2001,115(5):356-358.
-
2Lam YH, Lee CP, Sin SY, et al. Comparison and integration of first trimester fetal nuchal translucency and second trimester maternal serum screening for fetal Down syndrome. Prenat Diagn,2002,22(8):730-735.
-
3Wald NJ, Rodeck C, Hackshaw AK, et al.SURUSS in perspective.B JOG, 2004,111 (6):521-531.
-
4von Kaisenberg CS,Gasiorek-Wiens A, Bielicki M, et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks: a German multicenter.study. J Matern Fetal Neonatal Med,2002,12(2):89-94.
-
5Bindra R, Heath V,Liao A,et al. One-stop clinic for assessment of risk for tfisomy 21 at 11-14 weeks: a prospective study of 15 030 pregnancies. Ultrasound Obstet Gynecol, 2002,20(3):219-225.
-
6Spencer K, Spencer CE, Power M, et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. B JOG, 2003, 110(3):281-286.
-
7Cicero S, Bindra R, Rembouskos G, et al. Integrated ultrasound and biochemical screening for tfisomy 21 using fetal nuchal translucency,absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn, 2003, 23(4):306-310.
-
8Muller F, Benattar C, Audibert F, et al. First-triniester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn 2003,23 (10):833-836.
-
9Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol,2004 , 191(1):45-67.
-
10Yang YH, Kim SH, Yang ES, et al. Prenatal diagnosis of fetal trisomy 21 from maternal peripheral blood. Yonsei Med J,2003,44(2):181-186.
同被引文献26
-
1邬晋芳,王亚丹,张欣,滕菲,强荣,刘琪,马晓萍,阎桂花.中国人群孕中期二联筛查唐氏综合征的系统评价[J].中华临床医师杂志（电子版）,2011,5(8):2313-2319. 被引量：1
-
2强荣,李俊华,秦翠云,剡宏民,郑军.两种快速诊断21三体综合征的方法[J].中国优生与遗传杂志,2004,12(3):41-42. 被引量：3
-
3王世雄,张静敏.21三体综合征诊断与干预[J].临床儿科杂志,2004,22(9):638-640. 被引量：2
-
4闫卫东,张霞.21三体综合征及其产前筛查的研究现状和发展方向[J].生物学通报,2005,40(9):17-19. 被引量：11
-
5余伍忠.引物原位标记技术在Down′s综合征产前诊断中的意义[J].中国优生与遗传杂志,2006,14(1):12-13. 被引量：1
-
6徐伟,陈华丽,曹友德,袁友红,李灼日.21三体综合症植入前诊断的临床前运用研究[J].生命科学研究,2006,10(4):342-345. 被引量：2
-
7wald NJ,et al. First and second trimester antenatal screening for DownS syndrome: the results of the seram,urine and ultrasound screeningstudy (SURUSS)[J ] . Health Techol Assess,2003,7(11):1 -77.
-
8Catanzarite VA, Jelovesek FR. Computing applications in obsterics[J ]. Am J Obstet Gynecol ,1987,156:1049.
-
9Nicolaides KH. Nuchal translucency and other rst - trimester sono-graphic markers of chromosomal abnormalities[ J ]. Am J Obstet Gy-neco,2004,191(1):45 -67.
-
10Leung TY, Chan LW, Law LW, et al. First trimester combinedscreening for Trisomr 21 in Hong Kong : outcome of the first 10,000cases[ J ]. J Matem Fetal Neonatal Med ,2009,22(4) : 300 - 304.
-
1黄秀华,李丽君,马小燕,李磊.21-三体综合征的脑电图三例报告[J].中国优生与遗传杂志,2007,15(6):47-47.
-
2叶长烂,江悦华,张中芬,夏冰,周霞,王捷.孕中期羊水细胞染色体核型分析[J].中国优生与遗传杂志,2015,23(4):66-67.
-
3马国杰.二维和四维超声在胎儿先天性心脏病超声诊断中的意义[J].转化医学电子杂志,2015,2(2):107-108. 被引量：2
-
4章瑜,朱依敏,黄荷凤.两例唐氏综合征的植入前遗传学诊断[J].中华医学遗传学杂志,2006,23(1):118-118.
-
5李文清.定期产检对减少高危产妇母婴并发症及降低死亡率的作用[J].中外医学研究,2012,10(21):137-138. 被引量：15
-
6廖李波.孕中期唐氏综合征1020例筛查分析[J].广西医科大学学报,2012,29(1):113-114. 被引量：1
-
7韩爱萍,赵改兰.外倒转术矫正臀位的临床应用[J].大同医专学报,1995,15(1):27-27. 被引量：1
-
8杨艳.地中海贫血筛查及基因检测结果分析[J].中国临床新医学,2012,5(12):1159-1161. 被引量：7
-
9高海锋,胡莉莉,陶焕荣.唐氏综合征产前筛查的临床应用[J].实用医技杂志,2009,16(9):730-731.
-
10彭兰,戴建荣,柴利强,许香香,陈友国.胎盘蛋白13与胎盘生长因子在子痫前期高危人群中的表达及预测意义[J].中国现代医药杂志,2015,17(1):26-29. 被引量：9
