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羊水细胞染色体核型分析在产前诊断中的应用价值
引用本文:张晶,李卫凯,谢志威,刘楗婷,梁齐合,孙淑湘.羊水细胞染色体核型分析在产前诊断中的应用价值[J].中国优生与遗传杂志,2012(5):53-55.
作者姓名:张晶  李卫凯  谢志威  刘楗婷  梁齐合  孙淑湘
作者单位:江门市中心医院检验科;江门市妇幼保健院遗传室
摘    要:目的探讨羊水细胞染色体核型分析在产前诊断中的临床应用价值。方法对怀孕16~24w符合产前诊断条件的孕妇经知情同意后,在B超介导下行羊膜腔穿刺,抽取羊水,进行羊水细胞培养,观察细胞生长情况,抓住羊水细胞收获时机,用胰酶消化法收获细胞,常规G显带,进行核型分析。结果在1028例羊水细胞培养成功病例中发现异常核型44例。其中常染色体结构异常23例,常染色体非整倍体数量异常11例,性染色体数量异常5例,性染色体结构异常3例,常染色体缺失1例,其它核型异常1例。结论羊水细胞染色体核型分析是目前产前诊断染色体异常胎儿必不可少的检查方法,可及早发现异常胎儿并终止妊娠,对提高人口素质,优生优育具有十分重要的意义。

关 键 词:羊水细胞培养  染色体核型分析  产前诊断

Applicable value of amniotic cell karyotype analysis for prenatal diagnosis laboratory of jiangmen central hospital
ZHANG Jing,LI Wei-kai,XIE Zhi-wei,LIU Jian-ting,LIANG Qi-he,SUN Shu-xiang.Applicable value of amniotic cell karyotype analysis for prenatal diagnosis laboratory of jiangmen central hospital[J].Chinese Journal of Birth Health & Heredity,2012(5):53-55.
Authors:ZHANG Jing  LI Wei-kai  XIE Zhi-wei  LIU Jian-ting  LIANG Qi-he  SUN Shu-xiang
Institution:1.Clinical Laboratory of Jiangmen Central Hospital 529070;2.Genetics Laboratory of Jiangmen Maternal and Child Health Hospital)
Abstract:Objective:To explore clinical value of amniotic cell karyotype analysis for prenatal diagnosis.Methods: Amniotic fluid of 16-24 pregnant weeks women were drawn via ultrasound-Monitored Amniocentesis through imformed consent,amniotic cell were cultivated,cell growth condition monitored,best cell gathered time grasped,cell digested using trypsin,karyotype were analysed through G-banding.Among 1028 successful samples case,karyotype abnormalities were 47 cases,23 cases of which were thromosome constructure abnormalities,4 cases of which were the number of chromosome abnormality,5 cases of which were sex chromosome abnormality,3 cases of which were sex chromosome construction,1 case were autosomal deletion,1case was other karotype abnormality.Conclusion: Amniotic cell karotype analysis is important prenatal diagnostic measures which could improve the quality of the population,do a good job of birth.
Keywords:Amniotic cell culture  Chromosome karyotype analysis  Prenataldiagnosis
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