快速非整倍体胎儿产前诊断技术
摘要
染色体病是因染色体数目、结构畸变造成遗传物质得失所引起的遗传性疾病,目前的医疗水平难以治疗或无法治疗,因此产前诊断尤为重要。我国大规模开展的产前诊断手段主要是细胞遗传学染色体核型分析,所培养的羊水细胞和绒毛细胞核型分析的精确度分别为99.4%~99.8%和97.5%~99.6%.
出处
《协和医学杂志》
2010年第1期98-102,共5页
Medical Journal of Peking Union Medical College Hospital
参考文献24
-
1徐爱群,边旭明.荧光原位杂交技术用于快速产前诊断临床评价[J].国际妇产科学杂志,2009,36(3):172-177. 被引量:6
-
2王晨虹,周璐,李胜利,袁晖.荧光原位杂交与核型分析技术产前诊断非整倍体的对比研究[J].现代妇产科进展,2009,18(3):201-204. 被引量:7
-
3鲍如蓉,朱宝生,苏洁,唐新华.唐氏综合征快速产前诊断方法的研究[J].黔南民族医专学报,2009,22(1):18-22. 被引量:1
-
4周大文,许淼,颜景斌,任兆瑞.应用MLPA-微阵列技术分析基因组内拷贝数变异的初步探讨[J].现代诊断与治疗,2008,19(2):98-102. 被引量:5
-
5Shaffer LG,Bui TH.Molecular cytogenetic and rapid aneu-ploidy detection methods in prenatal diagnosis. American Journal of Medical Genetics . 2007
-
6Ballif BC,RoremE,Sundin K,etal.Detecting of lowlevel mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet Part A . 2006
-
7Vermeesch JB,Fiegler H,Leeuw N,et al.Guidelines for molecular karytyping in constitutional genetic diagnosis. European Journal of Human Genetics . 2007
-
8Schrijver I,Cherny SC,Zehnder JL.Testing for maternal cell contamination in prenatal samples a comprehensive sur-vey of current diagnostic practices in35molecular diagnostic laboratories. The Journal of Molecular Diagnostics . 2007
-
9Van D,Boter OM,de Jongl D,etal.Rapid aneuploidy de-tection with multiplex ligation-dependent probe amplification:a prospective study of4000amniotic fluid samples. European Journal of Human Genetics . 2009
-
10Fan HC,Blumenfeld YJ,EI-Sayed YY,et al.Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneu-ploidy. American Journal of Obstetrics and Gynecology . 2009
二级参考文献45
-
1Cremer T, Landegent J, Bruckner A, et al. Detection of chromosome aberrations in metaphase and interphase tumor cells in situ hybridization using chromosome specific library probes [ J ]. Hum Genet, 1986,74 : 346-352
-
2Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescencein situ hybridization (FISH) [ J ]. Am J Hum Genet, 1992,51:55-65
-
3Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization ;clinical experience with 4,500 specimens [J]. Am J Hum Genet, 1993,52:854-865
-
4Witters I, Devriendt K, Legius E, et al. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH) [ J]. Prenat Diagn,2002,22:29-33
-
5Caine A, Mahby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13,18,and 21 by FISH or PCR without a full karyotype; a cytogenetic risk assessment [ J ]. Lancet, 2005,366 : 123-128
-
6Breuning MH. From chromosomes to DNA, a revolution in prenatal diagnosis[J]. Eur J Hum Genet, 2005, 13(5 ):517-522.
-
7Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis [J].Am J Med Genet C Semin Med Genet, 2007, 145C( 1 ):87-98.
-
8Leung WC, Lau ET, Lao T, et al. Rapid aneuploidy screening (FISH or QF-PCR ): the changing scene in prenatal diagnosis? [J ]. Expert Rev Mol Diagn, 2004, 4(3):333-337.
-
9Tepperberg J, Pettenati M J, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-years multicenter retrospective study and review of the literature [J ]. Prenat Diagn, 2001, 21 (4):293-301.
-
10Caine A, Mahby AE, Parkin CA, et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chrnmosomes 13, 18, and 21 by FISH or PCR without a full karotype: a cytogenetic risk assessment[J]. Lancet, 2005, 366(9480): 123-128.
共引文献14
-
1魏惠平,伍治平,谢建生,王熙才.多重连接依赖式探针扩增技术及其在医学上的应用[J].中国实用医药,2009,4(12):1-3. 被引量:5
-
2鲍燕,曹来英,魏敏,孙艳梅.荧光原位杂交技术在产前遗传学诊断中的研究[J].中国儿童保健杂志,2010,18(2):104-106.
-
3刘鸿春,桂俊豪.荧光原位杂交技术在非整倍体产前诊断中的应用进展[J].中国优生与遗传杂志,2011,19(6):5-6.
-
4莫耀禧,莫伟英,谭毅.荧光原位杂交技术在快速产前诊断应用的研究进展[J].中国临床新医学,2012,5(4):374-376. 被引量:1
-
5吴晓平,刘林,刘文娇,王鹏,孙东晓.拷贝数变异及其在奶牛育种中的研究现状[J].中国奶牛,2012(11):2-6. 被引量:2
-
6李朋祥,晁天柱,肖君华.拷贝数变异的分型检测技术[J].国际遗传学杂志,2012,35(5):277-282. 被引量:1
-
7张利平,剡红民,秦翠云,娄超,马晓萍,郑军,强荣.荧光原位杂交技术在1459例羊水产前诊断中的应用研究[J].中国妇幼健康研究,2013,24(1):20-22. 被引量:4
-
8吴清明,周瑾.FISH产前诊断非整倍体染色体病的应用分析[J].中国优生与遗传杂志,2013,21(9):31-32. 被引量:2
-
9何薇,林琳华,吴菁,尹爱华,姚秋璇.应用短串联重复序列快速诊断唐氏综合征[J].中国优生与遗传杂志,2013,21(10):36-39. 被引量:1
-
10韩华,李萍艳,杜鹏,邱红燕,潘丽华.FISH检测染色体数目异常在胚胎停育患者中的应用[J].宁夏医学杂志,2014,36(11):988-990. 被引量:2
-
1连生堂,孙金山.产后尿潴留1例诊治得失谈[J].中医药研究,1996,12(3):36-36.
-
2管睿,刘玉环,崔英,惠宁.剖宫产疤痕处妊娠3例分析[J].中国计划生育学杂志,2005,13(9):556-558. 被引量:4
-
3吴菁,尹爱华,杜丽,麦明琴,郭莉,钟燕芳.两种快速非整倍体检测技术在产前诊断的临床应用[J].南昌大学学报(医学版),2013,53(5):17-19.
-
4卞丽君.阴道超声结合血绒毛膜促性腺激素在早早孕中的应用探讨[J].特别健康(下),2014(7):599-600.
-
5颜丹,李燎,钟桂书,卿晟,赵家兰,黄文才.女性不孕与解脲支原体和沙眼衣原体感染的关系[J].中国妇幼保健,2007,22(18):2533-2534. 被引量:12
-
6张卫英,吴盛海,金谦,梁巧米,陆焰,项国谦.女性生殖道感染常见病原体分布情况[J].浙江医学,2006,28(2):121-122. 被引量:5
-
7韩敏杰.荧光定量PCR检测妊娠期妇女沙眼衣原体的结果分析[J].医疗装备,2016,29(12):22-23. 被引量:1
-
8彭其才,许成芳,滕奔琦,侯红瑛.产妇血清HBV DNA含量对乳汁和新生儿血清HBV DNA浓度的影响[J].中山大学学报(医学科学版),2010,31(5):729-730. 被引量:12
-
9李 琰,段建平,康 山,段建平,张晓利,刘复权.荧光定量聚合酶链反应在临床检测沙眼衣原体和解脲支原体的应用[J].生殖与避孕,2002,22(1):33-35. 被引量:4
-
10姚敏,马增凤.荧光定量聚合酶链反应产前诊断巨细胞病毒感染的临床应用[J].中国妇幼保健,2008,23(29):4109-4110. 被引量:5