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产前筛查21-三体综合征的研究现状 被引量：9

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摘要 21-三体综合征又名唐氏综合征,是由多了一条21号染色体引起的染色体异常疾病,其发病率约为1/800~1/600[1],该病患儿在临床上常表现为先天性智力低下合并严重的多发畸形,导致生活不能自理及劳动力差等不良后果,目前我国尚无有效的治疗方法,早筛查、早诊断21-三体综合征胎儿,及时终止妊娠,
作者 师淑静 宋文龄 姚运壮 王桂云 马语红
机构地区 吉林大学第二医院妇产科产前诊断中心 吉林大学中日联谊医院骨科
出处 《中华医学超声杂志（电子版）》 CSCD 2015年第2期103-107,共5页 Chinese Journal of Medical Ultrasound(Electronic Edition)
基金 吉林省计委科技项目(3J112P563429) 吉林省科研基金项目(3D5130703429)
关键词 三体 染色体异常 先天性智力低下 产前筛查 早孕期 多发畸形 筛查方法 透明层 超声检查 双侧子宫动脉
分类号 R714.5 [医药卫生—妇产科学]
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参考文献7

二级参考文献103

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  • 5Chaoui R,Benoit B,Mitkowska-Wozniak H,et al.Assessment of intracranial translucency(IT)in the detection of spina bifida at the11-13-week scan. Ultrasound in Obstetrics and Gynecology . 2009
  • 6Sebire NJ,Noble PL,Thorpe-Beeston JG,et al.cPresence of the"lemon"sigh in fetuses with spina bifida at the10-14week scan. Ultrasound in Obstetrics and Gynecology . 1997
  • 7Chaoui R,Nicolaides KH.From nuchal translucency to intracranial translucency:towards the early detection of spina bifida. Ultrasound in Obstetrics and Gynecology . 2010
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共引文献134

同被引文献98

  • 1高岩冰,崔广和,齐春英,孙芳.产前超声检测颈部透明带厚度在胎儿染色体异常筛查中的价值[J].中华临床医师杂志（电子版）,2011,5(7):1881-1886. 被引量：11
  • 2周朝辉,付倩,罗国阳,李胜利.早孕期超声筛查新进展[J].中华医学超声杂志（电子版）,2013,10(1):8-18. 被引量：26
  • 3张丽丽,梁青,邓学东,姜小力,殷林亮,陆冰.孕11～13^＋6周超声检测胎儿鼻骨和颈项透明层的临床研究[J].中华医学超声杂志（电子版）,2013,10(7):554-559. 被引量：33
  • 4Nicolaides KH, Azar G, Byme D, et al. Fetal nuchal translucency: ultra- sound screening for chromosomal defects in first trimester of pregnancy [ J]. BMJ, 1992,304 (6831) :867 - 869.
  • 5Wald N J, Rodeck C, Hackshaw AK, et al. First and second trimesteran- tenatal screening for Down's syndrome : the results of the Serum, Urine and Ultraound Screening Study(SURUSS) [ J]. Health Technol Assess, 2003,7:1 -7.
  • 6Maiz N, Valencia C, Kagan KO, et al. Ductus venosus Doppler in screening for trisomies 21,18 and 13 and Turner syndrome at 11 - 13 weeks of gestational [ J ]. Ultrasound Obstet Gynecol, 2009,33 : 512 - 517.
  • 7Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl JMed ,2014,370:799- 808.
  • 8Liao C, Yin AH, Peng CF, et al. Noninvsive pranataldiagnosis of common aneuploidies bysemieonduetor sequencing. Proe Nail Acad USA,2014,111:7415-7420.
  • 9Dagldis T, Defigueiredo D, Staboulidou I, et al. Isolated single umbilical artery and fetal karyotype. Ultrasound Obstet Gynecol, 2010, 36: 291-295.
  • 10戚庆炜,孙念怙.产前唐氏综合征筛查概论[J].实用妇产科杂志,2008,24(1):4-7. 被引量：74

引证文献9

二级引证文献45

中华医学超声杂志（电子版）
2015年 第2期

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