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广西地区产前诊断359例羊水细胞染色体异常核型分析
引用本文:张海燕,郑陈光,杜娟,蒙达华,陈科,甘腾华,黄红倩,周元圆.广西地区产前诊断359例羊水细胞染色体异常核型分析[J].中国优生与遗传杂志,2011(8):27-29.
作者姓名:张海燕  郑陈光  杜娟  蒙达华  陈科  甘腾华  黄红倩  周元圆
作者单位:广西壮族自治区妇幼保健院;
摘    要:目的通过对有产前诊断指征的中期妊娠孕妇自愿进行羊水细胞遗传学分析,检出染色体异常核型胎儿,从而减少异常缺陷儿的出生。方法采用我室的改良羊水细胞原位培养方法进行培养和G显带染色体核型分析。结果在6085例羊水细胞培养中。发现染色体异常核型359例。异常检出率为5.90%,其中常染色体数目异常72例占异常核型的20.06%,常染色体结构异常237例(含正常变异的倒位和异染色质增加等多态性变异)占异常核型的66.02%,性染色体数目异常39例,占异常核型的10.86%。性染色体结构异常11例,占异常核型的3.06%。结论通过进行产前诊断,发现胎儿染色体核型异常时,在患者自愿的情况下,采取相应的措施,防止先天缺陷儿的出生。

关 键 词:产前诊断  染色体  核型分析

359 cases of prenatal diagnosis by amniotic fluid cell karyotype analysis in Guangxi
ZHANG Hai-yan,ZHENG Chen-guang,DU Juan,MENG Da-hua,CHEN Ke,GAN Teng-hua,HUANG Hong-qian,ZHOU Yuan-yuan..359 cases of prenatal diagnosis by amniotic fluid cell karyotype analysis in Guangxi[J].Chinese Journal of Birth Health & Heredity,2011(8):27-29.
Authors:ZHANG Hai-yan  ZHENG Chen-guang  DU Juan  MENG Da-hua  CHEN Ke  GAN Teng-hua  HUANG Hong-qian  ZHOU Yuan-yuan
Institution:ZHANG Hai-yan,ZHENG Chen-guang,DU Juan,MENG Da-hua,CHEN Ke,GAN Teng-hua,HUANG Hong-qian,ZHOU Yuan-yuan.(Guangxi Maternal and Child Health Care Hospital,Nanning,530003,China)
Abstract:Objective:In order to reduce birth defect of newborn,karatyping was employed to analyze in maternal amniotic fluid cell.Methods:Amniotic fluid cells were cultured karyotype analysis by a modified method of in situ culture and G-banding.Results:Out of 6085 cases of materna amniotic fluid cell,359 cases individual had chromosome abnormalities.Among them,72(20.06%) cases were abnormal number of autosomes,237(66.02%) cases were autosomal structural abnormalities,39(10.86%) cases were abnormal number of sexual c...
Keywords:Prenatal Diagnosis  Chromosome Karyotype analysis  
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